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Validated All-in-One™ qPCR Primer for BRCA1(NM_007300.4) Search again
Product ID:
HQP150513
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53
Gene Description:
BRCA1 DNA repair associated
Target Gene Accession:
NM_007300.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability and acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as BASC for BRCA1-associated genome surveillance complex. This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complex. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers.
Gene References into function
- The amino terminal RING finger motif and the granin consensus sequence are conserved between human, canine, and murine BRCA1 genes.
- germline mutation analysis by RNA-based sequencing
- founder mutation in a highly homogeneous population from southern Italy
- BRCA1 protein can be evaluated by two-dimensional gene scanning and by single nucleotide polymorphism techniques.
- In BRCA1, two novel frame shift mutations were identified as 3761-3762delGA and 2616-2617ins10.
- These findings reveal a novel complex between BRCA1, LMO4, and CtIP and indicate a role for LMO4 as a repressor of BRCA1 activity in breast tissue.
- BRCA1 can up-regulate its targeted genes through protein-protein interactions and provide a novel mechanism by which BRCA1 participates in transcriptional regulation.
- Activation of the aromatic hydrocarbon receptor pathway is not sufficient for transcriptional repression of BRCA-1: requirements for metabolism of benzo[a]pyrene to 7r,8t-dihydroxy-9t,10-epoxy-7,8,9,10-tetrahydrobenzo[a]pyrene.
- p300 Modulates the BRCA1 inhibition of estrogen receptor activity.
- BRCA1 and BRCA2 mutations in Russian familial breast cancer
- Germline mutation in BRCA1 associated with hypersensitivity to radiation
- role in regulating G2M checkpoint by activating Chk1 kinase upon DNA damage
- A low frequency of recurrent BRCA1 mutations has been found in breast and ovarian cancers in Spain.
- A founder mutation of BRCA1 identified in the Chinese population is a recurrent BRCA1 germline mutation in ovarian cancer.
- plays similar role in both male and female breast carcinoma; loss of this protein associated with poor prognosis
- Structural determinants of BRCA1 translational regulation
- Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot
- mutagenic sensitivity in blood of women carrying brca1 mutation
- complex with Nmi and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene promoter activity in breast cancer
- BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export
- Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase.
- Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination.
- first evidence of a BRCA1 mutation specific to Native North Americans.
- germline mutations in breast and/or ovarian carcinoma patients
- Expression of BRCA1 and BRCA2 in different tumor cell lines with various growth status
- a component of the IFN-gamma-regulated signaling pathway and may play a role in the regulation of IFN-gamma-mediated apoptosis.
- results suggest the presence of one or more genes on chromosome 5q33-34 that modify breast cancer risk in BRCA1 mutation carriers
- Cells from carriers of mutations in one allele of the BRCA1 or BRCA2 genes have no gross defects in their ability to rejoin radiation-induced DNA breaks.
- Following exposure to ionizing radiation (IR), the BRCA1-c-Abl complex is disrupted in an ATM-dependent manner, which correlates temporally with ATM-dependent phosphorylation of BRCA1 and ATM-dependent enhancement of the tyrosine kinase activity of c-Abl
- BRCA1 selectively coactivates the p53 transcription factor towards genes that direct DNA repair and cell cycle arrest but not towards those that direct apoptosis
- Three additional mutations are reported.
- transcriptionally regulates genes involved in breast tumorigenesis
- A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing.
- pathological splice mutations outside the invariant AG/GT splice sites of exon 5 increase alternative transcript levels in the 5' end of the gene
- JunB potentiates function of BRCA1 activation domain 1 (AD1) through a coiled-coil-mediated interaction
- Role of ERK1/2 in BRCA1-induced apoptosis
- BRCA1 transactivates the cyclin-dependent kinase inhibitor p27(Kip1). This may be a mechanism for BRCA1- induced growth inhibition.
- The BRCA1 suppressor hypothesis: an explanation for the tissue-specific tumor development in BRCA1 patients
- solution properties of the highly conserved C terminus of BRCA1, consisting of a tandem repeat of the BRCT domain (BRCT-tan), that plays a critical role in BRCA1-mediated tumor suppression
- BRCA1 exon 11 was studied by the protein truncation test, & BRCA1 exons 2, 3, 5, 13 & 20 by SSCP genomic DNA from early-onset breast cancer patients amplified by PCR. 3 frameshifts and a 12 bp duplication polymorphism were found.
- Findings demonstrate that a substantial proportion of Turkish ovarian cancer patients, both with and without a family history, carry BRCA1 mutations.
- Large rearrangements of exons 13 and 22 have been identified in the BRCA1 gene in German families with a strong history of breast and ovarian cancer.
- BRCA1 and BARD1 are associated with the RNA polymerase II holoenzyme.
- 3 mutations in the BRCA1 gene were identified: 2 novel mutations (a missense mutation in exon 7 near the RING finger domain & a one base pair deletion in exon 11 which results in protein truncation)& 185 delAG, previously described in Ashkenazi Jews.
- Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.
- specifically enhances the global genomic repair pathway, independent of p53, and can induce p53-independent expression of the nucleotide excision repair genes XPC, DDB2, and GADD45
- eight of the most common reported missense mutations in BRCA1 and BRCA2 occurring in patients tested for hereditary risk of breast and ovarian cancers
- relation of gene to various cancers, especially breast and ovarian cancers
- Cancer risks in carriers
- cancer incidence in mutation carriers
- Cancer risk estimates for mutation carriers identified in a risk evaluation program
- inactivated in ovarian cancer
- Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy.
- interacts with FANCD2 in S phase cell lines
- recent findings regarding BRCA1 in breast cancer - review
- By confocal analysis of breast cancer cells, confirmed by immunogold electron microscopy, BRCA1 localizes to microtubules of the mitotic spindle, to the walls of the centrioles and to pericentriolar fibers at centrosomes.
- mutation sites of BRCA1 gene in Chinese patients with breast cancer
- germline mutations predisposing to breast and ovarian cancers in Upper Silesia population
- These results demonstrate a novel pathogenic mechanism whereby mutations in BRCA1, via their interaction with ER-alpha, could promote tumorigenesis through the hormonal regulation of mammary epithelial cell proliferation and impaired VEGF function
- BRCA1 supports XIST localization, loss of BRCA1 in female cells may lead to Xi perturbation and destabilization of its silenced state.
- cell cycle differences in DNA damage-induced BRCA1 phosphorylation affect its subcellular localization
- analysis of the cancer-causing BRCA1-BRCT missense mutation and models of the protein
- enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein
- Purified RINGs, like BRCA1, self-assemble into supramolecular structures. Self-assembly controls & amplifies E3 ubiquitin conjugation activity of BARD1:BRCA1. Forced oligomerization partially restores assembly & E3 activity of oncogenic mutant BRCA1.
- A substantial proportion of Mongolian women with ovarian cancer or early-onset breast cancer may be due to a founder BRCA1 mutation 3252delA.
- Two novel BRCA1 splice variants, 331+1G>T and 4476+2T>C in breast cancer patients in India.
- Two novel mutations in BRCA1, 1584G>T and 5028delC, likely to be disease-associated, were identified in breast cancer patients in China.
- BRCA1 3857delT mutation was identified in breast cancer patients in Mexico.
- Germline mutations in BRCA1 account for breast cancer predisposition in the majority of families.
- role in differentiation (review)
- BRCA1 functions in the signaling of DNA damage and its repair by homologous recombination, nucleotide-excision repair and possibly non-homologous end-joining. (review)
- Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.
- BRCA1/BARD1 catalyses the formation of multiple polyubiquitin chains on itself and potentiates the E3 ubiquitin ligase activity of the BRCA1/BARD1 complex >20-fold
- BRCA1 AND VHL LOH is infrequent in sporadic breast carcinoma.
- BRCA1 upregulates DDB2 or XPC, with some evidence suggesting that p53 is involved in their regulation.
- BRCA1 germline mutations in Indian familial breast cancer.
- Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families.
- BRCA1 is downregulated by heregulin in the extracellular matrix in breast tumor cells
- role in heat shock response
- phylogenetic analysis of BRCA1 reveals that selection is acting most strongly on the role of BRCA1 in DNA repair
- BRCA1 expression was positively-correlated with Bcl-2 expression, but no relationship between BRCA1 expression and Bax or p53 expression could be established in breast carcinomas.
- mutational analysis in a case of familial endometriosis
- expression of the p210 BCR-ABL fusion protein leads to a down-regulation of BRCA1 protein, which is nearly undetectable in primary chronic myeloid leukemia cells
- The interindividual variability in ovarian cancer penetrance in BRCA1 carriers may be explained by a common BRCA1 Gly1038 wild-type allele, given its high frequency (0.27).
- Inhibition of BRCA1 via overexpressing the RHA fragment coincides with a reduction in PARP-1 protein expression, suggesting a possible mechanism for BRCA1 in the maintenance of genomic integrity.
- women aged less than 35 years with breast cancer have frequent loss of nuclear BRCA1 expression, which may be responsible for the specific tumor biology different from older women
- BRCA1 function is regulated by MDC1 in DNA damage checkpoint control
- BRCA1 is regulated by Ets-2 and components of mammalian SWI/SNF
- HMGA1 proteins are involved in transcriptional regulation of the BRCA1 gene, and their overexpression may have a role in BRCA1 downregulation observed in aggressive mammary carcinomas
- BRCA1 is involved in regulating cellular immortalization through the modulation of c-Myc on the hTERT promoter
- focus is transcriptional target genes and how BRCA1 could be linked to DNA repair and cell cycle regulation in breast cancer
- BRCA1 has roles in DNA damage repair and cellular responses that link development and cancer [review]
- Average cumulative risks in BRCA1-mutation carriers by age 70 years were 65% (95% confidence interval 44%-78%) for breast cancer and 39% (18%-54%) for ovarian cancer
- BRCA1 splice variants exhibit overlapping and distinct transcriptional transactivation activities in a non-tumorigenic mammary epithelial cell line
- germline BRCA1 mutations are not associated with an increased risk for lymphoid malignancies
- Mutation in BRCA1 cause a frameshift and generates a premature stop codon at 903.
- Founder mutations are present within the Scottish/Northern Irish population and have implications for the organisation of molecular screening services.
- BRCA1 protein has a significant role in both sporadic and hereditary breast cancers.
- Specific chemosensitivity profile of BRCA1-defective breast cancer cells in vitro, which is dependent on BRCA1 protein expression.
- BRCA1 Ser-1387 site phosphorylation is required for S-phase DNA damage checkpoint; Ser-1423 phosphorylation is specifically required for the G2/M checkpoint.
- p65/RelA, one of the two subunits of the transcription factor NF-kappaB, binds to the BRCA1 protein.
- Results identify factors involved in regulating BRCA1 transcription.
- A review of the genetics and expression of BRCA1, and its role in DNA damage and repair in its normal state.
- BRCA1 facilitates the ability of ATM and ATR to phosphorylate downstream substrates that directly influence cell cycle checkpoint arrest and apoptosis
- Both nucleus and cytoplasmic BRCA1 protein staining were detected in cells using four different antibodies.
- The loss of the androgen receptor expression together with the observed loss of other steroid hormone receptors in BRCA1-mutated tumors may lead to a hormone-independent growth or to anti-hormone resistant growth of these tumors.
- Both TopBP1 and BRCA1 specifically regulate the G(2)-M checkpoint, partially compensating each function.
- A putative splice site mutation (IVS6-2delA) in BRCA1 identified in a family attending a familial cancer center demonstrates a sequence variation that prevents normal splicing of the BRCA1 transcript and conveys an increased risk of breast cancer.
- Three novel disease-causing mutations identified in Chinese early onset breast cancer patients.
- analysis of BRCA1 missense mutations in breast-ovarian chancer families
- AS common deleterious frameshift mutations in unrelated Malay breast cancer patients with a common haplotype indicates a founder mutation in breast cancer patients of Malay ethnic background.
- germline 185delAG BRCA1 mutations are associated with an inherited predisposition to breast and ovarian carcinoma in non-Jewish Americans of Spanish ancestry
- Forms a heterodimer with the BARD1 protein, and the resulting complex functions as an E3 ubiquitin ligase that catalyzes the synthesis of polyubiquitin chains.
- results suggest that E2F6 represses transcription of the brca1, ctip, art27, hp1alpha, and the rbap48 genes and depletion of E2F6 resulted in the recruitment of E2F1 to the target promoters
- None of the BRCA 1 or 2 mutations were detected in the ovarian neoplasm patient group.
- exogenous nuclease-defective FEN-1 causes repeat instability and aberrant DNA repair. Inefficient flap processing blocks the formation of Rad51/BRCA1 complexes but invokes repair by other pathways
- Recurrent BRCA1 mutations have no role in predisposition to prostate cancer in Finland.
- mutations in BRCA1 were associated with a sex ratio skewed against male births.
- Fifteen novel BRCA1 mutations identified in breast and ovarian cancers may be deleterious cancer predisposing mutations.
- Using chromosomal stability after ICL damage as the end point, we find that BRCA1 functions in more than just the FA pathway for genome maintenance, whereas BRCA2 appears to act predominantly in the FA pathway.
- Plays a role in breast cancer in conjunction with p53.
- interaction with processive RNA pol II in undamaged cells places BRCA1 in position to link late events in transcription with repair processes in eukaryotic cells
- study from South India, on BRCA1, BRCA2 & CHEK2 mutations in patients with a family history of breast and/or ovarian cancer and early onset breast/ovarian cancer
- Recent studies indicate that BRCA1 interacts with and regulates the activity of estrogen receptor alpha (ER alpha) and the androgen receptor. Its expression is regulated by carcinogens and anticarcinogens that modulate ER alpha signaling.
- the BRCT region of BRCA1 has a role in breast neoplasms
- -FHL2 interaction may be involved in transcriptional regulation and play a significant role in cancer cell growth
- BRCA1 acts as a differential modulator of apoptosis in a breast cancer cell line depending on the nature of the cellular insult caused by chemotherapy.
- BRCA1 mutation is associated with serous carcinoma of ovary
- identified tandem BRCT (BRCA1 carboxyl-terminal) domains in BRCA1 as phosphoserine- or phosphothreonine-specific binding modules that recognize substrates phosphorylated by the kinases ATM and ATR in response to gamma-irradiation
- findings show that the BRCA1 BRCT domain directly interacts with phosphorylated BRCA1-Associated Carboxyl-terminal Helicase (BACH1); interaction is cell cycle regulated and required for DNA damage-induced checkpoint control
- risks of breast and ovarian cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2
- BRCA1 COOH-terminal (BRCT) domains have a role in DNA damage
- an exogenous BRCA1 gene strongly inhibited telomerase enzymatic activity in human prostate and breast cancer cell lines
- Review. Decreased BRCA1 expression occurs frequently in sporadic tumors, and the magnitude of this decrease has been correlated with increased disease progression.
- Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations
- Data report the isolation of a holoenzyme complex termed BRCC containing BRCA1, BRCA2, and RAD51, which displays increased association with p53 following DNA damage and ubiquitinates p53 in vitro.
- BRCA1-BARD1 mediates novel polyubiquitin chains that may be distinctly edited by 26 S proteasome from conventional Lys-48-linked polyubiquitin chains.
- Women with a BRCA1 mutation are at higher risk for the induction of mutations and secondary cancers by standard therapies.
- inactivation of the FANC-BRCA pathway is relatively common in solid tumors and may be related to tobacco and alcohol exposure
- BRCA1/BARD1 heterodimer formation is important for optimal nuclear targeting of BARD1 and its role in DNA repair and cell survival.
- examined the fidelity of double-strand break repair in four lymphoblastoid cell lines with BRCA1 missense mutations
- Cell cycle arrest after ionizing radiation (IR) of breast carcinoma cells may involve repression of the gene for polo-like kinase 1 by BRCA1.
- BRCA1 has a role as as a ZBRK1 co-repressor
- functional link between recombination control and breast cancer predisposition in carriers of Chk2 and BRCA1 germ line mutations
- Transcriptional activity depends on p53 and this protein: inability of the mutant suppressor to repress IGF-IR expression result in increased IGF-IR levels and IGF binding.
- Novel germline deleterious pathogenic, protein truncating frameshift and non-sense mutations were detected in exon 2, exon 11 of BRCA1 in breast-ovarian cancer families.
- Cancer-associated mutations in the BRCT domain of BRCA1 causes its cytoplasmic mislocalization.
- Heterozygosity for germ-line mutations in BRCA1 results in development of progesterone receptor A predominance.
- BRCA1 gene polymorphism increase the risk for breast neoplasms in Jordanian women.
- BRCA1-associated breast cancers involve MYC in disease progression
- BRCA1 directed ligation of ubiquitin occurs during S-phase
- BRCA1 phosphorylation by Aurora-A plays a role in G(2) to M transition of cell cycle
- BRCA1 downregulation in melanoma cells did not make them more aggressive and could lead to new therapeutic strategies for this tumor, which is so difficult to control once metastasized.
- The estrogen receptor-negative status of these cancers may reflect the cell of origin of BRCA1-related breast cancers.
- BRCA1 function contributes to maintenance of the proper heterochromatin superstructure on inactivated X chromosomes.
- A mutation in a pedigree of an Asian/Filipino family, with breast cancer.
- BRCA1 and BRCA2 mutations may have a role in progression of ovarian cancer
- BRCA mutations were present in 12.7% of the high risk patients, compared with 2.8% of the unselected patients.
- cytoplasmic relocalization of BRCA1 protein is a mechanism whereby BRCA1 function is regulated in response to DNA damage
- interaction with claspin regulates cell proliferation
- Our results suggest that there is a field effect of early genetic events preceding morphologic changes in the mammary glands of BRCA mutation carriers.
- BRCA1 cooperates with NUFIP and P-TEFb to activate transcription by RNA polymerase II
- single point mutations that disrupted the amino-terminal RING domain of BRCA1 caused significant suppression of cell growth
- The phosphorylated serine 990 and phenylalanine 993 of BACH1 anchor the binding to BRCA1 through specific interactions with a surface cleft at the junction of the two BRCT repeats.
- BRCA1 mutations could not be detected among unrelated non-Ashkenazi-Jewish high risk families in Israel.
- Geographical clustering suggest a founder effect for particular BRCA1 mutations and gene carrier detection in French families with breast and ovarian cancer.
- the X-ray crystal structure at a resolution of 1.85 A of the BRCA1 tandem BRCT domains in complex with a phosphorylated peptide representing the minimal interacting region of the DEAH-box helicase BACH1.
- the N-terminal repeat harbors a conserved BRCT phosphoserine-binding pocket, while the interface between the repeats forms a hydrophobic groove that recognizes the PHE; the structural integrity of both binding sites is essential for peptide recognition.
- BRCA1-BARD1 complexes act as an adaptor to mediate phosphorylation of p53, influencing G(1)/S cell cycle progression after DNA damage.
- data indicate that the cell cycle-dependent pattern of BRCA1 tumor suppressor expression is determined in part by ubiquitin-dependent proteasomal degradation
- Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families
- RAD51D polymorphism is not associated with BRCA1 or 2 genes in breast cancer.
- BRCA1 may have a role in pancreatic carcinogenesis of noninherited tumors
- The proliferation of MCF-7 cells induced by E2 was significantly inhibited by PD98059, a specific ERK inhibitor, or by dominant negative ERK2 expression and by expression of wt BRCA1 (but not mutant BRCA1).
- TRAP220 complex play an important role as putative co-activator complexes in BRCA1-mediated tumor suppression.
- Brca1 and Chk1 are regulated by MCPH1 during DNA damage in tumor cell lines
- Taken together, these data suggest a direct link between the BRCA1 185delAG mutation and alterations in the caspase-mediated apoptotic pathway.
- BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function
- Our findings identify a novel apoptosis inhibitory function of BARD1 and suggest that nuclear retention of BRCA1-BARD1 complexes contributes to both DNA repair and cell survival.
- Data show that the BRCA1 C-terminal region can negatively modulate phosphorylation levels of the RNA polymerase II carboxy-terminal domain by the Cdk-activating kinase (CAK) in vitro.
- Known hereditary mutations in the BRCA gene can efficiently be analyzed in serum samples collected and stored over several decades
- The occurrence of changes in BRCA1 gene mutation in women with familial ovarian cancer is more frequent than with familial breast neoplasms.
- 2 cases of monoallelic BRCA1 expression were detected, one of which was only revealed by allele-specific expression analysis.
- Patients with bilateral breast cancer having BRCA1 mutations are significantly younger than non-carriers.
- We wanted to clarify the proportion of breast cancer attributable to mutations in BRCA1 in an unselected breast cancer population from the Stockholm region
- We report here the characterization of two novel BRCA1 mutations identified in families seen in our cancer risk evaluation clinic that alter splice donor sites of BRCA1
- M1628T had the same transcriptional activity as wild-type BRCA1 but V1804D and the empty vector control showed a 60% reduction. The latter is deleterious, the former is not.
- A novel pathogenic germline mutation, BRCA1 c.5445G>A, was found in a screening of sporadic Korean breast cancer patients, along with 3 new polymorphic and 6 new intronic variants of unknown clinical significance.
- The loss of the wild-type allele inherited from the unaffected parent (LOH), commonly observed in the primary breast and ovarian tumors in these susceptible women, represents the event that initiates the tumorigenesis process.
- BRCA1 truncating mutations do not account for the linkage evidence on chromosome 17 observed hereditary prostate cancer families
- we show a requirement for Rad17 and Hus1 to induce G(2) arrest as well as Vpr-induced phosphorylation of histone 2A variant X (H2AX) and formation of nuclear foci containing H2AX and breast cancer susceptibility protein 1
- BRCA1 protects cells against oxidative stress.
- C-terminal NMR structure of BRCA1
- RING and BRCT domains together target BRCA1 to large focal assemblies at DNA double-stranded breaks
- the central region of BRCA1 may act as a long flexible scaffold for intermolecular interactions, thereby helping to integrate multiple signals in the DNA damage response pathway
- Phosphorylated BRCA1 is predominantly located in the nucleus and mitochondria.
- the 4153delA BRCA1 mutation confers a comparatively low risk of breast cancer
- CDK2-BRCA1-Nucleophosmin pathway coordinately functions in cell growth and tumor progression pathways
- a partial BRCA1 : estrogen receptor-alpha three-dimensional structure is proposed
- The c.3862delG (3981delG) frameshift mutation (p.E1288fsX1306) is a novel gene alteration.
- coordinating role of BRCA1 in gene expression may ensure the appropriate quantity and quality of the mature transcripts for certain breast and ovarian cancer-related genes, as well as the genetic integrity of the breast and ovary tissues
- results reveal unique characteristics of BRCA1/2 mutation, genotype-phenotype & prognosis in moderate- & low-risk individuals of Greek ancestry; breast cancer due to mutations in BRCA1 & BRCA2 appears to be a heterogeneous syndrome in Greek population
- ERK1/2 signaling has a critical role in the regulation of BRCA1 function on controlling the G2/M checkpoint responses
- BRCA1-dependent DNA repair in response to a DNA damaging agent is suppressed by TGFbeta1/Smad3
- BRCA1 is rarely expressed in breast cancer of Kuwaiti patients and correlates with parameters of poor prognosis
- There may be a genetic predisposition toward pancreatic neoplasms via BRCA1.
- The BRCA1-IRIS is a novel product of the breast cancer susceptibility locus BRCA1.
- The BRCA1-IRIS is a novel product of the breast cancer susceptibility locus BRCA1.
- BRCA1 contains at least two leucine-dependent nuclear export sequences
- results lead to conclusion that, in colon epithelial cells, the expression level of the K18 gene is kept in check by a repression mechanism involving CtBP1, HDAC & BRCA1; mechanism is altered in SW613-S colon carcinoma cells that overexpress the K18 gene
- PCR assay was used for determining the prevalence of five BRCA1 rearrangement mutations that previously had been reported to occur in unrelated patients.
- Ab-1 is the most reliable antibody for detecting BRCA1 expression in formalin-fixed paraffin-embedded tissues
- Mutation of the BRCA1 gene is associated with Czech ovarian cancer patients
- BRCA1 and BARD1 can ubiquitinate phosphorylated RNA polymerase II
- BRCA1/2 mutation screening should be considered for all women diagnosed before age 41.
- There is no significant effect of AIB1 genetic variation on breast cancer risk in BRCA1 mutation carriers.
- role of BRCA1 and BRCA2 mutation in pre-disposition to ovarian cancer.
- The 1708E variant was associated with the disruption of different cellular functions of BRCA1.
- Germline mutations within breast cancer susceptibility genes, such as BRCA1 and BRCA2 are associated with a major risk of breast cancer during lifetime.
- BRCA1 participates in DNA decatenation and in the maintenance of genomic stability.
- BRCA1 is involved in secretion of certain paracrine/autocrine factors that induce mammary epithelial cell differentiation in response to extracellular matrix signals
- the BRCA1 promoter is positively regulated by 53BP1
- Distribution of BRCA1 and BRCA2 mutations in a cohort of young women with breast cancer compared as a function with race.
- BRCA1 interacts with human papillomavirus oncoproteins.
- women with a BRCA1 protein mutation and 4 or more children had a 38% decrease in breast cancer risk compared to nulliparous women, while among BRCA2 protein carriers, increasing parity was associated with an increased risk of breast cancer
- BRCA1 has two evolutionarily conserved noncoding regulatory sequences (CNS) in intron 2, 5 kb downstream of the core BRCA1 promoter.
- BRCA1 mutations and polymorphisms were evaluated in a hospital-based consecutive series of breast cancer patients in Italy.
- analysis of Alu element insertions within the BRCA1/2 coding sequences
- Carboplatin caused slightly less damage at equimolar concentrations in cells than in cell-free BRCA1 fragment.
- BRCA1 promotes accurate DSB repair during various phases of the cell cycle [review]
- BRCA1 regulates the activity of progesterone, a major hormone of pregnancy that may also participate in mammary carcinogenesis.
- ASPM may be involved in mitotic spindle function, possibly, through regulation of BRCA1
- BRCA1-dependent ubiquitination inhibits centrosomal microtubule nucleation activity
- Mutational analysis of BRCA1/2 genes in 151 high-risk patients characterized the spectrum of gene alterations and demonstrated the dominant role of the BRCA1 c.5266dupC allele in hereditary breast and ovarian cancer.
- Weight loss in early adult life (age 18 to 30) protects against early-onset BRCA1 associated breast cancers.
- BRCA1 is upregulated both in human male and female germ cells and in preimplantation embryos; its dysfunction might alter human embryogenesis or fertility.
- BRCA1 modulates aromatase expression in ovarian granulosa cells and primary preadipocytes; transient knockdown of BRCA1 enhances aromatase expression in both ovarian granulosa cells and primary preadipocytes
- Model for BRCA1 carcinogenesis in which genomic instability leads to the initiation of cancerous cell clones (review)
- We identify the first BRCA1 alternative splice variant containing an additional in-frame exon. This previously unknown exon 13A-containing transcript is generated by the insertion of 66 nucleotides between exons 13 and 14.
- Data suggest that the microcephaly observed in patients with MCPH1 deficiencies is due to disruption of the ATR-BRCA1-Chk1 signaling pathway that is also disrupted in Seckel syndrome patients.
- Individuals receiving BRCA1 test results who learn that they are not carriers of a deleterious mutation for breast or ovasrian cancer may experience psychologic benefits.
- TP53 mutations in BRCA1 mutation carriers do not appear to have a role in progression of ovarian neoplasms
- Our findings support a model in which an Estrogen Receptor alpha/AP-1 complex modulates BRCA-1 transcription under conditions of estrogen stimulation.
- these data implicate BRCA1 and the H2AX kinase in replication of facultative heterochromatin on the inactive X chromosome
- the multiple BRCA1 functions require a novel hGCN5/TRRAP histone acetyltransferase complex subclass
- BRCA1 mutations are associated with breast and ovarian cancer
- testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers
- Excludes the frequent occurrence of large genomic alterations in the BRCA1 gene in Finland amd concludes that there are still unknown breast cancer susceptibility gene(s) that are responsible for breast cancer predisposition.
- BRCA1 could play a role in telomere protection.
- The frequency of the hereditary ovarian carcinoma is attributed to BRCA1 gene mutation.
- BRCA1 affects lipogenesis through binding to P-ACCA, suggesting a new mechanism by which BRCA1 may exert a tumor suppressor function
- identifies high expression of FOXA1 in breast cancer cell lines and tissues; role for BRCA1 in the regulation of p27(Kip1) transcription and a possible interaction with BRCA1 discovered
- The data suggest applying an increased level of clinical alertness to those with defects in BRCA-related pathways.
- study proposes a new mechanism by which estrogen receptors and retinoic acid receptors regulate BRCA1-mediated DNA repair by means of CBP
- The telomere dysfunction phenotype in Brca1-deficient cells of transgenic mice suggests that loss of telomere integrity might contribute to chromosome end dysfunction and permit the formation of potentially oncogenic translocations.
- Salpingo-oophorectomy, despite being quite a radical preventive method, might offer protection for the carriers against life-threatening silently-developing cancer.
- results demonstrate that DNA damage-induced ATM activation requires a coordinated assembly of BRCA1, BAAT1, and ATM
- Prophylactic salpingo-oophorectomies from women with BRCA mutations (BRCA+) have identified the tube as a frequent site of early pelvic serous carcinoma (tubal intraepithelial carcinoma [TIC]).
- This review will survey the known ubiquitination substrates of BRCA1 and suggest how these reactions may influence the genomic stability and proliferation of breast cells.
- while the Norwegian haplotype including 1135insA represents an ancient Norwegian mutation, the same mutation has occurred independently in the other populations examined
- Low expression of BRCA1 was associated with colorectal cancer
- epidemiologic study of BRCA1-positive breast cancers in young women from Poland
- Self-assembly has profound consequences for the processive formation of polyubiquitin (poly-Ub) chains in ubiquitination reactions directed by the breast and ovarian cancer tumor susceptibility protein BRCA1.
- Normal amounts of BRCA1 function in hypoxia to regulate HIF-1alpha stability, probably by interacting with HIF-1alpha, leading to reduced levels of VEGF.
- Carrying a BRCA1 or BRCA2 mutation is not a risk factor for spontaneous abortions but may be associated with frequency of induced abortion.
- xenobiotic (TCDD) treatments of breast cancer cells containing reduced levels of BRCA1 cause the transcription factor ARNT to become unstable
- The effects of BRCA1 intron variants on mRNA splicing and expression.
- Our comparison of binding by wild-type and mutant domains indicates the sequence specificity of BRCA1-p53 interaction.
- the whole BRCA1 protein interacts with ACCA when phosphorylated on Ser1263.
- down regulation of BRCA1 protein and loss of heterozygosity correlated with the clinicopathological parameters in the pathogenesis of sporadic breast cancer women in Chennai (South India).
- There is a low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients.
- Women who had developed breast cancer under the age of 40 and who were identified as BRCA1 or BRCA2 mutation carriers experienced devastation, loneliness and isolation.
- BRCA1 could act as a CTD kinase inhibitor and, as such, contribute to the regulation of p21 gene expression
- The G2/M checkpoint-mediated arrest of the cell cycle is critical for the prevention of both apoptosis and the accumulation of cells with rereplicated DNA, because the loss of ATR, BRCA1, or FANCA promotes apoptosis and suppresses the accumulation.
- Results suggest that the charge and stechiometry variations determined by the changes in the amino acids Y179C, F486L and N550H in BRCA1 might produce an effect on the conformation of the protein and, consequently, on its function in breast cancer.
- Analysis resulted in the identification of 25 and 52 variants in the BRCA1 and BRCA2 genes, respectively in breast or ovarian cancer.
- BRCA1 mutation is common (9%) among unselected young breast cancer patients undergoing BCT.
- provide evidence that gross rearrangements within the breast and ovarian cancer susceptibility protein 1(BRCA1) gene locus may be as frequent as 3% in primarily mutation-negative tested high-risk familial breast and ovarian cancer of German ancestry
- Earlier menopause in carriers of the BRCA1 mutation is associated with hypergonadotropic activity and may predispose to ovarian cancer at a younger age
- BRCA1 modulates protein synthesis via its interaction with PABP, providing a novel mechanism by which BRCA1 may exert its tumor suppressor function
- No BRCA1/2 genomic rearrangements found in high-risk French-Canadian breast/ovarian cancer families.
- Results show that wild type BRCA1 specifically represses the expression of osteopontin, a multifunctional estrogen-responsive gene implicated in oncogenic transformation, particularly that of the breast.
- Describes genetic screening program for breast neoplasms based on BRCA1 mutations.
- BRCA1 can regulate the functions of its substrates through nonproteasomal pathways that do not involve substrate degradation.
- Study identified a specific spectrum of germline BRCA1/BRCA2 mutations in Portuguese families with inherited predisposition to breast/ovarian cancer and found evidence for genetic anticipation regarding age of diagnosis in succeeding generations.
- Microsatellite instability (MSI) of BRCA1 gene could be used as a molecular marker in early phases of sporadic gastric cancer in Chinese population.
- In present study one Ex20insC mutations of BRCA1 gene was identified in women with breast cancer.
- The objective in this study was to determine the frequency of large genomic rearrangements in BRCA1 and BRCA2 in a large group of Danish families with increased risk of breast and ovarian cancer.
- Results suggest that, besides its role in maintaining genomic stability, BRCA1 directly regulates the expression of angiogenic factors to modulate the tumor microenvironment.
- Identification of 13 novel variants including two deleterious truncating mutations and two potentially pathogenic missense mutations on the BRCA1 and BRCA2 genes
- A novel signaling pathway links BRCA1-IRIS to cellular proliferation through c-Jun/AP1 nuclear pathway; finally, this culminates in the increased expression of the cyclin D1 gene.
- Testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing predicts prevalence of breast and ovarian cancer.
- Breast cancer cells lacking cancer predisposition genes BRCA1 are more sensitive to cyclin-depende kinase inhibitors.
- Prevalence of BRCA1 mutations in breast cancer cases among racial and age groups and show key predictors of carrier status for both White and Black women and women.
- These results suggest that heregulin-mediated growth inhibition in HER4-postive breast cancer cells requires BRCA1.
- Selective inhibition of aromatase expression by BRCA1 binding to the I.3/II tumorigenic promoter region may be an important protective mechanism against breast cancer development.
- Role for BRCA1 in modulating estrogen biosynthesis in Adipose stem cells, contributing to its tissue-specific tumor suppressor function.
- Results show that in the presence of a premature termination codon at position 36 or 39, translation reinitiation occurs in the BRCA1 minigenes at position 128.
- We have compared the X inactivation pattern in lymphoblastoid cell lines from 38 females carrying heterozygous BRCA1 mutation to 41 controls. X inactivation analysis was assessed on the polymorphic CAG repeat within the human androgen receptor gene.
- Ninteen percent of the women who developed both invasive breast and ovarian tumors carried one of the analyzed BRCA1 gene mutations but none of the women were positive for the analyzed BRCA2 mutation.
- BRCA1 is a tumor suppressor gene and is known to be responsible for breast cancer and breast-ovarian cancers running in families.
- analysis of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC
- distinct single nucleotide changes in the BRCT domain of BRCA1 affect binding of this protein to the tumor suppressor p53
- Cav-1 induced the cytoplasmic sequestration of BRCA1.
- infrequent presence of germline BRCA1 mutations in our study agree with the idea that a great proportion of moderate risk breast cancer population could be due to the susceptibility genes distinct from BRCA1
- Effective strategies have been developed to reduce the risk for the development of breast and ovarian cancer in women with BRCA1/2 mutations, making genetic testing for these mutations an important part of the management. [REview]
- Breast cancers arising in BRCA1 and BRCA2 mutation carriers appear to have specific pathological and gene expression profiles, which show a high level of concordance. BRCA1 tumors are high-grade and negative for hormone receptors. [REVIEW]
- Evidence for BRCA1 pathway dysfunction in sporadic basal-like breast cancers, and clinical significance of the basal-like phenotype for cancer genetics and treatment. [Review]
- Possible effects of BRCA1 transcriptional regulation on downstream targets with known roles in cell cycle control. [REVIEW]
- Findings show that BRCA1 mutations account for a substantial proportion of hereditary breast/ovarian cancer and early-onset breast and ovarian cancer cases in Pakistan.
- Tumor cells having disruptions in BRCA1/2 network genes and TP53 together are more sensitive to cisplatin than cells with either disruption alone.
- BRCA1 mutations appear to account for a lower proportion of breast cancer patients at increased risk of harboring such mutations in Northern India
- The P1812A and P25T BRCA1 mutations are not likely to be founder mutations in non-Ashkenazi Jewish families with high risk of breast and ovarian cancer.
- in conclusion, the BRCA1-Gln356 allele presents risk factor in the onset and progression of breast cancer in Czech population
- Data show that reduced BRCA1 expression owing to promoter hypermethylation is frequent in therapy-related acute myeloid leukemia and that this could contribute to secondary leukaemogenesis.
- Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer. Estimating the penetrance of a mutation using different approaches, we found that both the choice of study population and statistical method affect the result
- no evidence for poorer short-term survival in BRCA1 mutation carriers compared to non-carriers with breast cancer
- functional polymorphisms in the MTHFR gene modify the risk of breast and may potentially alter the risk of ovarian cancer in women with BRCA1, an inherited predisposition
- BRCA1 and BRCA2 mutation status have roles in inter-cell-line phenotypic variability after irradiation of lymphoblastoid cell lines
- analysis of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil
- findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia
- Repressors of BRCA1 expression may facilitate the development of strategies based on disruption of these interactions to rescue BRCA1 expression in human tumors.
- These findings implicate BRCA1 in replication-linked maintenance of centric/pericentric heterochromatin and suggest a novel means whereby BRCA1 loss may contribute to genomic instability and cancer.
- BRCA1 and BRCA2 mutations may be more frequent in general populations than previously thought and may be associated with various types of cancers.
- These data suggest that BRCA2 mutation carriers with ovarian cancer may have better survival than BRCA1 carriers and non-carriers.
- analysis of nonconserved residues that enforced p53 core domain binding with BRCA1-BRCT in a way similar to p53-53BP1 binding
- The obtained results indicate that alteration in the RAD51 region may contribute to the disturbances of DNA repair involving RAD51 and BRCA1 and thus enhance the risk of breast cancer development.
- The ubiquitin-proteasome degradation pathway plays a significant role in the coordinated protein stability of BRCA1 and its partner BARD1 in ovarian granulosa cells.
- The ITGB3_Leu33Pro polymorphism may potentially increase the risk of ovarian cancer in Polish women with an inherited BRCA1 mutation.
- identified a BRCA1 mutation with a possible founder effect
- in response to irofulven, BRCA1 contributes to the control of S and G(2)/M cell cycle arrest and is critical for repairing DNA double-strand breaks and for RAD51-dependent homologous recombination
- found a novel BRCA1 mutation in a family of Palestinian origin with a history highly compatible with BRCA1 phenotype
- Identification of cancer-specific splice forms of BRCA1 protein.
- Epimutation is an unlikely explanation for hereditary breast cancer in women who test negative for BRCA mutations.
- investigation of the contribution of BRCA-1 and BRCA-2 germline mutations to the clinical features and outcome in 66 Italian women with early-onset breast cancer
- BRCA1 mutations are associated with breast ans ovarian cancer
- deregulated expression of BRCA1-IRIS is likely to reduce dependence on normal physiological growth stimuli
- BRCA1 plays a role in cellular repair of oxidatively induced DNA lesions
- low mRNA and protein expression in the BRCA1/BRCA2 and XRCC5 genes occur in lung adenocarcinoma and squamous cell carcinoma, respectively, and promoter hypermethylation is the predominant mechanism in deregulation of these genes
- A role for BRCA1/2 mutations in colorectal cancer risk in a subgroup of breast cancer and/or ovarian cancer affected carriers.
- analysis of BRCA1 gene was carried out in 56 Slovak breast/ovarian cancer families; 4 mutations accounted for 61.3% of all detected pathogenic mutations in BRCA1, and there also was a large scale of low frequency disease causing mutations
- These results suggest a possible role for BRCA1 in modulating cisplatin sensitivity in head and neck cancer cells.
- substantial levels of aberrant methylation, in the fluid from the breasts of healthy BRCA mutation carriers
- FANCD2 expression is absent in 10-20% of sporadic and BRCA1-related breast cancers, indicating that somatic inactivating (epi)genetic events in FANCD2 may be important in both sporadic and hereditary breast carcinogenesis
- BRCA1 genomic rearrangements is associated with breast and ovarian cancer
- Our findings suggest that in Central Sudan BRCA1/2 represent an important etiological factor of breast cancer in males and young women less exposed to pregnancy and lactation.
- Cyclin D1/cdk4-mediated phosphorylation of BRCA1 inhibits the ability of BRCA1 to be recruited to particular promoters in vivo.
- These data suggests that, at least part of the biological actions of insulin-like growth factor-I in mammary gland cells may be mediated through BRCA1.
- We show that BRCA1, signal transducer and activator of transcription (STAT)-1, and STAT2 are all required for the induction of IRF-7 following stimulation with IFN-gamma.
- BRCA1 splice variant BRCA1a/p110 can induce apoptosis of human breast, ovarian and prostatic cancer cells.
- BRCA1 is a ubiquitin ligase expressed in a wide range of tissues.
- BRCA1 C-terminal domain is implicated in recombination control.
- analysis of BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer
- BRCA1 enzymatic activity regulates transcriptional repression, during which the ubiquitin moiety itself interferes with the assembly of basal transcription factors at the promoter.
- Study in Brca1 mice demonstrates a possible increase in cancer risk following radiation, given the differences of phenotypes of Brca1 heterozygous mutation in mice and human.
- unlikely that annual screening will reduce mortality from ovarian cancer in BRCA1/2 mutation carriers.
- common polymorphisms in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are not shown to increase breast cancer risk
- These findings implicate Akt in upstream events leading to BRCA1 nuclear localization and function.
- Regulation of the BRCA1 promoter in ovarian cells.
- the genomic instability observed in normal cells from BRCA1 and BRCA2 mutation carriers is associated with a down-regulation of nuclear BRCA1 protein accumulation in dot like structures
- These findings point to the existence of an association of ERBB2 allelic variants at both loci with specific breast tumor phenotypes.
- two BRCA1 mutations, 5382insC and G1738R, both located in exon 20, account for 46% of the families found to carry a mutation in Greek breast/ovarian cancer families.
- presence of BRCA1 and BRCA2 rearrangements among Asian patients with early onset or familial history of breast or ovarian cancer
- Carriers of BRCA1 mutations fare significantly worse than carriers of BRCA2, even when their tumors are diagnosed at an apparently early stage.
- IGF1-19/-19 genotype was significantly more common among BRCA1 mutation carriers (14.2%) than among non-carriers (4.8%)
- Breast cancers among BRCA1 carriers frequently do not exhibit sensitivity to docetaxel in the neo-adjuvant setting. It is likely that normal BRCA1 is required for clinical response to mitotic spindle poisons.
- thermal unfolding of variant V1833M is only moderately affected relative to wild-type BRCT
- illustrate a molecular mechanism for estrogen/ERalpha signals in BRCA1-associated tissue-specific tumor formation, and identify key elements in estrogen/ERalpha-signaling cascade that may serve as therapeutic targets for BRCA1-associated tumorigenesis
- among carriers of BRCA1 or BRCA2 mutations, the cumulative lifetime risk of developing breast cancer is 50-60% and the equivalent risk of ovarian cancer is 20-40% in Australian women
- Regulates Akt signaling and the PI3K/Akt pathway modulates the ability of BRCA1 to repress estrogen receptor-alpha.
- roles for BRCA1 in both mammary gland development and in tumor suppression against mutagen-induced mammary gland neoplasia
- BRCA1 was present in brain tissue of all cases of Alzheimer disease.
- event free survival of women with familial breast cancer affected by a second primary cancer, who are BRCA1 mutation carriers is better
- The RAP80-Abraxas complex may help recruit BRCA1 to DNA damage sites in part through recognition of ubiquitinated proteins
- data support a model wherein ubiquitin chains at DNA damage sites are used as a targeting mechanism by specific BRCA1 complexes; RAP80 may represent a new class of DNA repair proteins that uses tandem UIM domains as part of its recruitment to DSBs
- identification of receptor-associated protein 80 (RAP80) as a BRCA1-interacting protein in humans
- BRCA1 requires BARD1 for targeting to different types of DNA lesion, and that distinct C-terminal sequences mediate selective recruitment to sites of double- or single-strand DNA damage.
- by combining multiple approaches to assess the genetics and epigenetics of a large series of BRCA1 primary tumors, we can conclude definitively that BRCA1 is not required for XIST RNA coating of the X chromosome
- The mutation of BRCA1 gene may be related to Uigur women breast cancer and bilateral breast cancer.
- Screening for large genomic rearrangements in the BRCA1 gene in the Czech high-risk patients is highly supported by this study
- BRCA1 mutation carriers without cancer had increased chromosome breaks as well as breaks and gaps per cell post irradiation
- Variation in the BRCA1 gene is associted with prostate cancer
- review of some of the most well-known and significant examples of founder mutations in BRCA genes found in European and non-European populations [review]
- 4843delC, a deleterious mutation of the BRCA1 gene, is due to a founder effect originating in the Sicilian region of Italy.
- Correlation was observed between promoter methylation and loss of protein expression confirming our hypothesis that promoter methylation is an important mechanism for transcriptional silencing of these genes in breast cancer
- identify a new post-transcriptional regulatory axis and a novel mechanism for modulating the levels of BRCA1 protein, with possible implications for understanding the mechanisms underlying BRCA1 repression in breast cancer
- a direct physical interaction between BRCA1 and ATRIP is required for the checkpoint function of ATR
- BRCA1 activates a G2-M cell cycle checkpoint following 6-thioguanine-induced DNA mismatch damage
- the ubiquitin-interacting motif containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response
- High-risk patients with BRCA1-negative tumors should be screened first for BRCA2 gene.
- BRCA1- and p53-deficient mouse mammary tumors exhibit dramatic genomic instability, and their molecular signatures resemble those of human BRCA1-mutated breast cancers.
- Mutations found in a significant proportion of women with ductal carcinoma in situ who presented for hereditary risk assessment.
- Duration of oral contraceptive use, especially before first full-term pregnancy, may be associated with an increasing risk of breast cancer among both BRCA1 and BRCA2 mutation carriers.
- Four BRCA1 mutations were found in a sample of 64 families with a pedigree of male breast neoplasms.
- families appear to exhibit features most consistent with BRCA1 and BRCA2 carrier status
- PTEN germline mutations are rare
- Individuals homozygous for the 17GT allele for BRCA1 D17S1323 were more likely to have spina bifida lesions located caudally, while heterozygotes with the 17GT allele for BRCA1 D17S1323 had a more rostral lesion.
- From a population database of BRCA1 and 2 mutation carriers in Southwestern Ontario, Canada, we identified three women with advanced-stage endometrial cancer.
- We identified and characterized a novel large BRCA1 deletion in five unrelated families-four of Mexican ancestry and one of African and Native American ancestry, suggesting the possibility of founder effect of Amerindian or Mestizo origin.
- BRCA1/2 rearrangements is not advantageous in male breast neoplasm (MBC) cases not belonging to high-risk breast cancer families and that common CHEK2 mutations play an irrelevant role in MBC predisposition in Italy.
- Report an SNP haplotype analysis of BRCA1 gene in members of a hereditary breast and ovarian cancer led to a long deletion at a minimum of expns 11 through 18.
- Results point to a critical role for BACH1 helicase activity not only in the timely progression through the S phase by association with BRCA1/BRCA2, but also in maintaining genomic stability.
- Higher BTAK expression was found in ovarian cancer cells compared to ovaries without cancer but with known BRCA1/2 mutation or strong family history.
- BRCA1 5589del8 mutation is likely to be the "founder mutation" in Chinese population, but it should be confirmed by further studies.
- Inactivation of a single gene within the BRCA1 pathway can increase risks for multiple cancers and inactivation of a different gene in the same pathway may have similar effects.
- Data indicate that BRCA1 are the major susceptibility genes for ovarian cancer but that other susceptibility genes may exist.
- BRCA1 truncated protein could not be detected, even when nonsense-mediated mRNA decay (NMD) mechanism was inhibited. This suggests that BRCA1 truncated protein is unstable
- A mutation in the 5' UTR of the BRCA1 gene downregulates translational efficiency of the protein in breast cancer.
- An nsSNP (rs1800751) could be an important candidate for the breast cancer caused by the BRCA1 gene.
- BRCA1 is one of molecular targets of trichostatin A
- The greatest proportion of serous cancer risk in BRCA mutation-positive women should be assigned to the fimbria rather than the ovary.
- Data suggests that the IGF-IR gene is a physiologically relevant downstream target for BRCA1 action.
- downregulation of BRCA1 expression in MDA-MB-468 cells reduced the apoptotic response to TRAIL
- analysis of BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families
- The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality.
- Data suggest that BRCA1 has the ability to direct the synthesis of specific polyubiquitin chain linkages, depending on the E2 bound to its RING.
- it would have been difficult to map BRCA1 in an Ashkenazi case-unrelated control association study using anonymous markers that were linked to the founder mutations
- Self-image and self-disclosure concerning prophylactic mastectomy (PM) for women with a BRCA1/2 mutation.
- BRCA1 function might be lost in breast tumor cells not only through mutation, but also via abnormal cytoplasmic location.
- These findings strongly implicate MTA1 in the transcriptional repression of BRCA1 leading to abnormal centrosome number and chromosomal instability.
- prevalence of BRCA1 & BRCA2 mutations in breast cancer patients with affected relatives in Tunisia; 4 mutations in BRCA1 were detected, a novel frame-shift mutation (c.211dupA) & 3 other frameshift mutations--c.4041delAG, c.2551delG and c.5266dupC
- role of disease associated germ line mutations in BRCA1 gene among Chinese early-onset breast cancer patients
- The clinical significance of 1,433 sequence variants of unknown significance (VUSs) in the BRCA genes, was assessed.
- Estrogen receptor alpha and BRCA1 are specifically targeted for methylation in sporadic breast cancers
- Overexpression of the homologous recombinase RAD51 in a DT40 BRCA1Delta/Delta mutant rescues defects in proliferation, DNA damage survival, and homologous recombination.
- The site of first distant metastasis is different between BRCA1- and BRCA2-associated and sporadic breast cancer patients.
- High frequency of BRCA1/2 and p53 somatic inactivation in sporadic ovarian cancer.
- BRCA1 or BRCA2 mutations have roles in breast cancer in smokers
- In our current cohort of 36 consecutive patients with uterine papillary serous carcinoma (not yet published), we have identified six cases of BRCA carriers (16%)
- data showed high prevalence of BRCA1 gene mutation among breast or breast/ovarian cancer families in South India and breast cancer patients having BRCA1 mutations were associated with poor prognosis
- Two variants of nucleotide sequence observed in the number of patients were classified as DNA polymorphisms (P871L and S1436S) rather than mutations as they were not tightly associated with the increased risk of breast cancer.
- BRCA1 is not required for the ubiquitylation of human RNA polymerase II.
- Authors identified BRCA1/2 germline mutations in 21 (13.9%) patients. Seventeen (81%) of carriers have BRCA1 and four (19%) have BRCA2 mutation. BRCA1/2 carriers have a distinctly longer overall survival than sporadic cases.
- BRCA1 alters the response of breast cancer cells to antiestrogen therapy by directly modulating ER alpha expression.
- MDM2 SNP309 accelerates breast and ovarian carcinogenesis in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent.
- we estimate selection on BRCA1 alleles leading to susceptibility to late-onset breast and ovarian cancer. For this, we integrate estimates of the risk of developing a cancer for BRCA1-carriers into population genetics frameworks
- In BRCA1 germline mutation related breast cancer, functional HIF-1alpha overexpression is seen at a much higher frequency than in sporadic breast cancer.
- Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development.
- Brca1 regulates Activation-induced cytidine deaminase-dependent DNA lesion repair and is required to recruit ubiquitinated FancD2 to DNA damage.
- evaluation of the risks of developing breast carcinoma for male BRCA1 and BRCA2 mutation carriers; both the relative and cumulative risks were higher for BRCA2 mutation carriers than for BRCA1 mutation carriers
- there is no evidence of sex ratio skewing in offspring of female BRCA mutation carriers
- Silent-RNA-mediated downregulation of BRCA1 in primary human breast cancer gland tumor cells triggers upregulation of endogenous intracellular IGF-I in vitro.
- BRCA1 large genomic rearrangement is associated with breast and ovarian cancer.
- BRCA1 mutations are associated with breast and ovarian cancer.
- COBRA1 and BRCA1 may engage in common gene regulatory pathways to suppress breast cancer progression.
- The data presented here provide new insight into the role of endogenous BRCA1 as a mediator of apoptosis and show that BRCA1 functions as a molecular determinant of response to a range of cytotoxic chemotherapeutic agents.
- BRCA1 is an important protein, which affects 5F-203-mediated cytotoxicity.
- the human Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage
- PGE(2) via EP(2) and EP(4) activates the cAMP-->PKA-->CREB pathway leading to enhanced CYP19 transcription and increased aromatase activity through BRCA1 and p300
- By controlling gamma-TuRC localization, BRCA1 appropriately inhibits centrosome function.Loss of BRCA1 may result in centrosome hyperactivity, supernumerary centrosomes & aneuploidy.
- Risk of prostate cancer in BRCA1 carriers varies with the position of the mutation
- BRCA1/2 mutations are significantly more common in Italian women who developed breast cancer
- Tumors grow quickly in women with BRCA1 mutations and in young women.
- support a role for BRCA1 mRNA expression as a predictive marker of survival in sporadic epithelial ovarian cancer.
- the BRCA1 interacting protein CTIP has a role in breast cancer
- analysis of breast cancer genes that may modify risk in BRCA1/2 mutation carriers
- Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes
- models used to analyze age-incidence curve of breast cancer in women carrying gerrmline BRCA1 or BRCA2 mutations; results suggest in carriers there are 2 events which may occur at rates similar to mutation rates for normal cells leading to breast cancer
- A modified natural IVF cycle is an effective and safe solution for BRCA1 or BRCA2 mutation gene carrier women with couple infertility.
- Founder BRCA1 mutation is associated with male breast cancer
- Increased somatic mutation frequency from a manifesting carrier of the Q1200X mutation in BRCA1.
- Data suggest that ubiquitination of topoisomerase IIalpha is dependent on oxidative stress, and that BRCA1 may be involved in the ubiquitination.
- study confirms that, among Ashkenazi ovarian cancer patients, BRCA1/2 mutations are associated with improved long-term survival
- BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer
- cell cycle-dependent complex formation of BRCA1, CtIP, and MRN contributes to the activation of HR-mediated DSB repair in the S and G(2) phases of the cell cycle.
- The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation
- heterogeneous ethnicity increases the variety of BRCA1 and BRCA2 mutations that can be found in Spanish populations
- Since BRCA1/2 mutation carrier status is associated with more aggressive disease, it is a prognostic factor for PRCA outcome.
- BRCA1 exerts its tissue-specific function through the regulation of progesterone receptor and estrogen receptor-alpha [review]
- Mutation of BRCA1 gene is an indication of susceptibility to breast and ovarian neoplasms.
- Allelic imbalance affecting BRCA1 and to a lesser extent BRCA2 may contribute to both familial and non-familial forms of breast cancer.
- early radiation exposure may be a risk factor for breast cancer in BRCA1 carriers
- Overexpression of p53 with loss of p21 expression occurred significantly more frequently in high grade serous carcinomas with epigenetic loss of BRCA1, compared to high grade serous tumors without loss of BRCA1
- The 1499insA mutation shared by the investigated subjects was estimated to be present in an individual living about 30 generations ago or 750 years.
- BRCA1-5083del19 mutation carriers of two neighboring regions of Italy (Calabria and Sicily) may make it possible to identify the real ancestor of this mutation.
- Loss of BRCA1 may result in the accumulation of genetically unstable breast stem cells, providing prime targets for further carcinogenic events.
- Brca1-deficient mouse mammary tumors harbor heterogeneous cancer stem cell populations, and CD44+/CD24- cells represent a population that correlates with human breast cancer stem cells.
- described method proved to be simple, cost-effective, easy to perform and rapid enough for routine use as a screening method in high-risk families where 5382insC mutation is the most common BRCA1 mutation
- incidence of mutations in the BRCA1 and BRCA2 genes in the studied sampling of 74 patients with ovarian cancer was 19%; majority of mutations (86%) were detected in BRCA1 gene, where 5382insC mutation predominated (58%)
- review of BRCA1/2 associated hereditary breast cancer [review]
- we review the DNA-damage response network consisting of FA and BRCA proteins and what is known about their involvement in breast cancer susceptibility
- AhR, a transcription factor, can bind specifically to AD1 in the C-terminal region of BRCA1 and affect BRCA1's ability to regulate transcription activity.
- low-level promoter methylation of BRCA1 occurs in normal tissues of the body and is associated with the development of BRCA1-like breast cancer.
- Novel germline 3536delT mutation in BRCA1 gene, detected in a 43-year-old woman with bilateral ovarian adenocarcinoma.
- This article reviews the evidence of the association between BRCA1 polymorphisms and the risk of breast neoplasms.
- BRCA1 mutation is associated with breast cancer
- A combination of functional, crystallographic, biophysical, molecular and evolutionary techniques, and classical genetic segregation analysis were used to demonstrate that the BRCA1 missense variant M1775K is pathogenic.
- Association between BRCA1 mutations and the presence of breast cancer in a Cuban population.
- BRCA1 is transiently excluded from the nucleus during the early part of S phase in the absence of DNA damage. Breast cancer cells predominantly expressing nonnuclear BRCA1 correlate with the percentage of cells within early S phase.
- 110 mutations were identified in BRCA1 in families containing at least one reported ovarian cancer diagnosed less than 50 years or at any age with family history of breast or ovarian cancer for mutations in BRCA1 and BRCA2.
- 32 unrelated Tunisian patients who had at least 1 first degree relative affected with breast &/or ovarian cancer were analysed; identified 4 BRCA1 frameshift mutations: c.4041delAG, c.2551delG & c.5266dupC already described & 1 novel mutation, c.211dupA
- Tubal p53 signature merits serious consideration as an important early event in serous carcinogenesis in BRCA+ women.
- The differences in the effects of the FGFR2 and MAP3K1 SNPs between BRCA1 and BRCA2 carriers point to differences in the biology of BRCA1 and BRCA2 breast cancer tumors and confirm the distinct nature of breast cancer in BRCA1 mutation carriers.
- defects in BRCA1 chromatin structure may contribute to dysregulated expression of BRCA1 seen in breast tumors
- We studied 10 BRCA1 and 12 BRCA2 variants identified in Australian families with breast cancer.
- The proximal BRCA1 promoter segment comprises cis-acting elements that are targeted by Sp-binding and CRE-binding proteins that contribute to regulation of BRCA1 transcription.
- The binding of the splicing factors hnRNPA1/A2 and DAZAP1 is the primary determinant of T6 BRCA1 exon 18 exclusion.
- Our data suggest that the PHB 3'UTR polymorphism does not modify ovarian cancer risk in women carrying one of the three Polish BRCA1 founder mutations.
- Immunohistochemical assessment of BRCA1 expression could provide additional clinically relevant information in routine classification of breast cancer.
- Secondary mutations in BRCA1 may mediate resistance to platinum in BRCA1-mutated ovarian tumors.
- A total of 14 BRCA1 and 17 BRCA2 sequence alterations, of which eight are novel, are reported.
- 32 pathogenic rearrangements in the BRCA1 gene were found
- These observations are consistent with the idea that BRCA2, but not BRCA1, is a tumor suppressor of prostate cancer.
- biochemical analysis of human BRCA1 BRCT domains in complex with a phospho-peptide from human ACC1
- Our data should give confidence in using immunohistochemical detection of BRCA1 and its altered expression.
- The mutation distributions are comparable with those from Scandinavian and European studies and indicate that the Danish BRCA1 and BRCA2 mutations are a mixture of Scandinavian mutations and European mutations including two of the Ashkenazi mutations.
- deleterious genetic variants in the BRCA1 gene in the Czech population
- BRCA1 and BRCA2 mutation carriers had similar expression profiles, with some subclustering of missense mutation carriers.
- one large deletion in BRCA1, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer in Finland
- A case-control study is reported on infertility, treatment of infertility, and the risk of breast neoplasms among women with BRCA1 mutations.
- Women who test positive for the familial BRCA1/BRCA2 mutation are likely to have cumulative breast cancer risks in keeping with the estimates obtained originally from large families. This is particularly true for women born after 1940.
- The promoter methylation status of a panel of critical growth regulatory genes, RASSF1A, RARbeta2, BRCA1 and HOXA5, in 54 breast cancers and 5 distant normal breast tissues of Indian patients, was analyzed.
- We analyzed the haplotypic profile of seven Brazilian carriers of 5382insC to characterize a possible founder effect of BRCA1 5382insC mutation
- There is a highly significant reduction in life expectancy in BRCA1 compared with BRCA2 carriers in ovarian cancer.
- BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.
- Promoter hypermethylation of the BRCA1 gene was detected in 51% of our biopsies, among which 67% did not express the respective protein suggesting that hypermethylation could be considered as an inactivating mechanism for BRCA1 expression
- transcription-induced degradation of Top1 is Brca1 dependent, suggesting a role for Brca1 in the repair or removal of transcription-blocking Top1-DNA cleavage complexes.
- An important interaction between BRCA1 and ERK1/2 in the regulation of cellular response after IR-induced DNA damage in MCF-7 cells.
- truncated proteins arising from BRCA1 185delAG mutation increase Akt-mediated apoptosis, suggesting a possible mechanism by which ovarian cancer patients with this germline BRCA1 mutation may respond better to initial chemotherapy.
- Tip60 enables ultraviolet rays (UV)-induced dna damage response (DDR) signaling even in the absence of p53, whereas preaccumulated p53 suppresses UV-induced DDR by reducing the levels of BRCA1.
- Data observed a much higher frequency of BRCA1 mutations among young breast cancer patients than observed in Europe, suggesting biological differences.
- BRCA1-associated breast cancers show less promoter methylation compared with sporadic breast carcinomas indicating a difference in diseases etiology.
- polymorphisms in BRCA1 gene have a role in breast cancer in Sri Lanka
- characterized BRCA1 and BRCA2 gene polymorphic variants in familial breast cancer
- BRCA1 overexpression sensitizes cancer cells to lovastatin via regulation of cyclin D1-CDK4-p21WAF1/CIP1 pathway
- Results show that p14ARF associates with Brca1, which may play a major role in tumor suppression.
- BRCA1 and BRCA2 genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%
- interactions that form two- and three-way networks in which BRCA1 plays a dominant and central role
- this kinetic analysis is similar to the K d values measured using steady-state SPR, isothermal titration calorimetry, and fluorescence anisotropy. The nature of BRCA1-BRCT may facilitate the binding of BRCA1 to different phosphorylated protein targets.
- The study demonstrates for the first time that microsatellite-stable FHIT-negative sebaceous gland carcinomas accumulate mutations that target central components of the HRR network.
- BRCA1/2 in high-risk African-American women with breast cancer: providing genetic testing through various recruitment strategies is reported.
- BRCA1 germline mutations likely predispose to the development of pancreatic cancer
- overexpression of wild-type BRCA1 suppressed the expression of GRP78, whereas expression of mutant BRCA1 gene or targeted inhibition of endogenous BRCA1 using small-interfering RNA (siRNA) enhanced GRP78 expression.
- comprehensive study of BRCA1 promoter polymorphisms found four variants that altered promoter activity and with the most significant contribution from c.-2265C-->T, which could affect susceptibility to breast cancer in the Chinese population
- A high mutation detection rate and the frequent occurrence of a limited array of recurring mutations allow a simple and fast initial test for BRCA1/2 mutation screening in families with Slovenian ancestry
- Higher BRCA1 mRNA expression is significantly correlated with advanced disease and ERBB2 overexpression in breast cancers.
- The results suggest that somatic mutations of BRCA1 are infrequent in sporadic breast cancer, and nucleotide alterations were more easily observed in the breast cancer tissue DNA.
- In a population well beyond the average age of breast/ovarian cancer onset, 21 different sequence variants in the BRCA1 gene (one novel) and 36 variants in the BRCA2 gene (7 novel) were detected.
- the presence of a CHEK2 mutation in women with a BRCA1 mutation may not increase their risk beyond that of the BRCA1 mutation alone.
- Results describe the response of BRCA1 at DNA double-strand breaks produced by laser microirradiation, and show that accumulation of the BRCA1 N terminus, but not the C terminus, at DSBs depended on Ku80.
- Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes.
- EGFR and BRCA1 might be candidate therapeutic targets in triple-negative breast cancer
- Mutation of the PP1-binding motif affects BRCA1 redistribution in response to DNA damage.
- germ-line BRCA1 or BRCA2 mutations may have a role in response to primary platinum-based chemotherapy
- Skewed X inactivation occurs at an increased frequency in BRCA1 (and possibly BRCA2) mutation carriers compared with control subjects and is associated with a statistically significant increase in age at diagnosis of breast and ovarian cancer.
- Positive BRCA1 germline mutation in a woman with fallopian tube cancer following BRCA1 breast cancer.
- Among the genes showing perturbation of their expression, periostin was found to be up-regulated in HeLa/(5083del19)BRCA1 cells to an extent of 72-fold versus HeLa/(pcDNA3.1/empty) and 76-fold versus HeLa/(wt)BRCA1 cells
- Functional analysis indicated that BRCA1 variants S1613C, Q1826H, and M1652I are likely to be neutral, whereas variants V1833M, Delta exons 16/17, and 5673insC are likely to represent deleterious variants.
- decreased BRCA1 levels modify ERalpha-mediated transcription and regulation of cell proliferation in part by altering ERalpha-coregulator association.
- NFBD1, 53BP1 and BRCA1 have both unique and redundant functions in radiation-induced phosphorylation and localization events in the ATM-Chk2 pathway.
- The mRNA expression of BRCA1 is potentially a useful tool for selecting NSCLC patients for individualized chemotherapy
- AKT1 inhibits homologous recombination by inducing cytoplasmic retention of BRCA1 and RAD51.
- the presence of the E1038G polymorphism in BRCA1 exon 11 was significantly associated with protein expression and immunohistochemistry of BRCA1 doesn't discriminate between familial and sporadic breast cancer.
- Cross-sectional analysis of germ-line BRCA1 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer is reported.
- The findings of this study suggest that the AACC haplotype of the BRCA1 gene is an important prognostic marker in NSCLC patients treated with platinum combination chemotherapy.
- Considering the low frequency of BRCA1 mutation in the group and the absence of features characterizing BRCA1-dependent tumours in the only BRCA1-positive case, pleomorphic adenoma of salivary glands should not be recognized as a BRCA1 dependent tumour.
- DNA repair proteins BRCA1 and ERCC1 have roles in inhibiting progression of ovarian cancer
- analysis of the effectiveness of screening in diagnosing early stage ovarian cancer in BRCA1 and BRCA2 mutation carriers
- The interaction between BRCA1 and acetyl-CoA-carboxylase is regulated during cell cycle progression.
- Founder mutations for BRCA1 and BRCA2 were identified in 5.5% of Ashkenazi patients operated on for pancreatic adenocarcinoma.
- The presence of a heterozygous BRCA1 mutation is not associated with increased levels of indicators of oxidative stress in serum or lymphocytes.
- The BRCA1 gene is located on the long arm of chromosome 17.BRCA 1 and 2 mutations account for 5% to 10% of breast cancer cases.
- study demonstrates that BRCA1 controls cell motility and invasion through its regulation of several key genes which are crucial in the progression of breast cancer
- Results suggest that BAP1 and BRCA1/BARD1 coordinately regulate ubiquitination during the DNA damage response and the cell cycle.
- Two novel BRCA1 splicing variants targeted to different subcellular compartments in the transfected tumor cell lines.
- there is no relationship between BRCA1 mutation and pancreatic cancer development in Polish population
- BRCA1, ATR and gammaH2AX in the human may be part of a system which signals unsynapsed chromosomes at pachytene and may lead to their silencing.
- TP53 mutation is highly recurrent in basal-like carcinoma independently of BRCA1 status, but not a common feature of BRCA1 luminal tumors.
- Evidence suggests BRCA1 is a potential marker of response to platinum chemotherapy in EOC with BRCA1 deficiency predicting enhanced response. Evidence suggests that loss of BRCA1 function results in reduced response to antimicrotubule-based chemotherapy.
- BRCA1 knockdown in mammary epithelial cells causes telomere dysfunction.
- Altered growth and differentiation properties may render BRCA1-mutant mammary epithelial cells to be disposed to the development of epidermal growth facor receptor positive breast cancers.
- Histopathological criteria and selection algorithms for BRCA1 genetic testing.
- the NBS1/ATR/BRCA1 repair machinery affects centrosome behavior, and this might be a crucial role in the prevention of malignances.