|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for BRCA2(NM_000059.3) Search again
Product ID:
HQP017753
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11
Gene Description:
BRCA2 DNA repair associated
Target Gene Accession:
NM_000059.3(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.
Validated result:
|
|
| A | B |
|
Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
|
Summary
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer.
Gene References into function
- Suppression of tumorigenicity of rat liver tumor cells by human chromosome 13: evidence against the involvement of pRb and BRCA2
- BRCA1 and BRCA2 mutations in Russian familial breast cancer
- Germline mutation in BRCA2 associated with hypersensitivity to radiation
- A low frequency of recurrent BRCA2 mutations has been found in breast and ovarian cancers in Spain.
- Three Chinese cases carrying the recurrent BRCA2 mutation 3337C>T show sharing of some alleles, suggesting some degree of shared ancestry but not sufficient to demonstrate founder effect.
- minor role of exon 1 among Sudanesse breast cancer patients
- mutagen sensitivity of blood lymphocytes from women carrying brca2 mutatioon
- Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany.
- BRCA2 N372H polymorphism associated with modest recessively inherited risk of breast cancer in Australian women
- somatic mutations in BRCA2 and high frequency of allelic loss occurs in sporadic male breast cancer
- Expression of BRCA1 and BRCA2 in different tumor cell lines with various growth status
- 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.
- cell lines derived from Fanconi anemia B and D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins
- BRCA2 exons 10 & 11 were studied by the protein truncation test, & BRCA2 exons 9, 17, 18 and 23 with the SSCP assay on genomic DNA from early-onset breast cancer patients by PCR. 2 frameshifts, 3 missense mutations, and a polymorphism were found.
- Results demonstrate the importance of BRCA2 in the development of ovarian cancer in this Turkish population.
- The 999del5 mutation in the BRCA2 gene explains a substantial proportion of familial risk of breast cancer in Iceland.
- first BRCA2 missense mutation shown to be a predicted deleterious protein-truncating mutation and suggests a potentially useful method for determining the clinical significance of a subset of the many unclassified variants in BRCA1 and BRCA2
- Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.
- eight of the most common reported missense mutations in BRCA1 and BRCA2 occurring in patients tested for hereditary risk of breast and ovarian cancers
- crystal structure of a COOH terminal BRCA2 domain bound to DSS1; demonstrate that this BRCA2 domain binds single-stranded DNA and show that BRCA2 stimulates RAD51-mediated recombination in vitro
- relation of gene to various cancers, especially breast and ovarian cancers
- inactivated in ovarian cancer
- Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy
- recent findings regarding BRCA2 in breast cancer - review
- BBRCA2 gene mutation in unselected women with ovarian and early breast cancer in Mongolia predicts the genetic predisoposition to these diseases.
- crystal structure of a complex between an evolutionarily conserved sequence in BRCA2 (the BRC repeat) and the RecA-homology domain of RAD51
- Two BRCA2 missense variants were identified in breast cancer patients in India.
- BRCA2 mutation, 7883delTTAA, was identified in breast cancer patients in China.
- BRCA2 2663-2664insA and rare variants were identified in breast cancer patients in Mexico.
- Germline mutations in BRCA2 account for breast neoplasms predisposition in the majority of families.
- highly recurrent BRCA2 splice site mutation (IVS16-2A>G) in three breast cancer-only families
- BRCA2 has a more specific role in DNA repair, regulating the activity of RAD51(review)
- cancer-predisposing mutation compromises interaction between BRCA2 and replication protein A
- The BRCA2 gene plays a significant role in the familial breast cancer phenotype in the Cypriot population.
- mutation analysis of this gene in a case of familial endometriosis
- Our data support an important role for BRCA2 germline mutations in a subpopulation of families with familial pancreatic cancer.
- S-phase RAD51 foci form normally in CAPAN-1 cells expressing truncated BRCA2. The observed BRCA2-dependent & independent formation of RAD51 foci shows that intact BRCA2 is not required for RAD51 focus formation per se.
- BRCA2 germline mutation is associated with fallopian tube cancer.
- polymorphisms in BRCA2 is associated with esophageal squamous cell carcinoma
- Changes in the topoisomerase I activity in V-C8 cells are due to the defective function of the Brca2 gene.
- Average cumulative risks in BRCA2-mutation carriers by age 70 years were 45% (95% confidence interval 31%-56%) for breast cancer and 11% (2.4%-19%) for ovarian cancer
- germline BRCA2 mutations are not associated with an increased risk for lymphoid malignancies
- Founder mutations are present within the Scottish/Northern Irish population and have implications for the organisation of molecular screening services.
- wild-type BRCA2, but not a tumor-specific truncated mutant BRCA2, synergizes with the nuclear receptor coactivator p160 GRIP1 to enhance transcriptional activation by androgen receptor
- major role of Brca2 in mediating cell survival after irradiation is in the S and G(2) phases of the cell cycle
- Androgen receptor expression is absent in BRCA1-mutated breast tumors when compared to BRCA2-mutated cases, indicating that BRCA2-mutated tumors may be different.
- BRCA2 has a role in modulating M phase progression
- None of the BRCA 1 or 2 mutations were detected in the ovarian cancer patient group.
- Recurrent BRCA2 mutations have no role in predisposition to prostate cancer in Finland.
- The product of the BRCA2 gene has a function relating to the differentiation of epithelial tissue in the breast in response to the hormones of pregnancy.
- Eight novel BRCA2 mutations identified in breast and ovarian cancers may be deleterious cancer predisposing mutations.
- the spectrum of BRCA2 mutations in African Americans
- In general, OC use, childbearing and breastfeeding do not differ between BRCA1/2 carriers and non-carriers with ovarian cancer. However, the effects of tubal ligation may differ between BRCA1 carriers and non-carriers.
- BRCA2 is epistatic to FA genes for ICL repair, but not for damage-induced modification of FANCD2 and may act downstream form FANCD2.
- 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
- BRCA2 mutation is associated with serous carcinoma of ovary
- risks of breast and ovarian cancer were determined for Ashkenazi Jewish women with inherited mutations in the tumor suppressor genes BRCA1 and BRCA2
- 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.
- inactivation of the FANC-BRCA pathway is relatively common in solid tumors and may be related to tobacco and alcohol exposure
- fiver germline mutations in cases of familial esophageal squamous cell carcinoma suggests role in genetic susceptibility
- The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer.
- In transgenic mice, rescues embryonic lethality and mice develop normally.
- Molecular analysis revealed biallelic BRCA2/FANCD1 mutations in a kindred with solid tumors in childhood.
- Novel germline deleterious pathogenic, protein truncating frameshift and non-sense mutations were detected in exon 11 of BRCA2 in breast-ovarian cancer families.
- heterozygosity for germ-line mutations in BRCA2 results in development of progesterone receptor A predominance.
- Man with a history of clinically diagnosed right breast cancer who subsequently tested positive for the breast cancer susceptibility gene BRCA2 and received a diagnosis of mammographically detected left breast cancer at screening.
- Allelic loss at the BRCA2 locus may be of use as a negative predictor for metastases-free and overall survival in breast cancer patients.
- BRCA1-related breast cancers are more frequently estrogen receptor (ER) negative than are either BRCA2-related or nonhereditary breast cancers.
- identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia
- 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.
- Our results suggest that there is a field effect of early genetic events preceding morphologic changes in the mammary glands of BRCA mutation carriers.
- FANCD2 and BRCA2 can be coimmunoprecipitated from cell extracts of both human and Chinese hamster wild-type cells, thus confirming that the interaction occurs in vivo
- Cancer variation associated with the position of the mutation in the BRCA2 gene in 7 different neoplasms and the differences in cancer risk remain to be explored.
- BRCA2 mutations could not be detected among unrelated non-Ashkenazi-Jewish high risk families in Israel.
- 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.
- results demonstrate that monoubiquitination of FANCD2, which is regulated by the FA pathway, promotes BRCA2 loading into chromatin complexes. These complexes appear to be required for normal homology-directed DNA repair.
- BRCA2 germline mutations may have a role in primary cancer of the fallopian tube
- Results suggest that BRCA2 expression levels are regulated by ubiquitination in response to DNA damage and that USP11 participates in DNA damage repair functions within the BRCA2 pathway independently of BRCA2 deubiquitination.
- Patients with bilateral breast cancer having BRCA2 mutations are significantly younger than non-carriers.
- A novel pathogenic germline mutations,BRCA2 c.2259delT, was found in a screening of sporadic Korean breast cancer patients, along with 4 polymorphic and 8 intronic variants of unknown clinical significance.
- results show that BRCA2 deficiency impairs the completion of cell division by cytokinesis
- prevalence of BRCA2 mutations in a large hospital based series of unselected breast cancer cases
- Quantitative-PCR and Northern analysis confirmed down-regulation of UCRP and UBE2L6 with BRCA2 knockdown, respectively.
- FANCD2 mediates double strand DNA break repair independently of BRCA2- and Rad51-associated homologous recombination
- Identification of a potential novel domain in the BRCA2 protein.
- 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
- SLUG is a negative regulator for BRCA2 gene expression
- results indicate that S3291 phosphorylation might provide a molecular switch to regulate RAD51 recombination activity, providing new insight into why BRCA2 C-terminal deletions lead to radiation sensitivity and cancer predisposition
- prostate carcinoma cell proliferation is enhanced by the down-regulation of BRCA2 expression when interacting with COL1, a major component of the ECM at osseous metastatic sites
- BRCA1/2 mutation screening should be considered for all women diagnosed before age 41.
- No association was found for the N372H polymorphism in BRCA2 and breast cancer among Caucasian women.
- There is no significant effect of AIB1 genetic variation on breast cancer risk in BRCA2 mutation carriers.
- role of BRCA1 and BRCA2 mutation in pre-disposition to ovarian cancer.
- Expression of BRCA2 and MAGE-D1 synergistically suppresses cell proliferation independently of the p53 pathway.
- Germline mutations within breast cancer susceptibility genes, such as BRCA1 and BRCA2 are associated with a major risk of breast cancer during lifetime.
- BRCA2 BRC motifs bind distinct regions, and form stable complexes with RAD51-DNA nucleoprotein filaments.
- Distribution of BRCA1 and BRCA2 mutations in a cohort of young women with breast cancer, compared as a function with race.
- 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
- ells lacking the fully functional protein have consistently been found to show increased sensitivity to a variety of DNA-damaging agents.
- analysis of Alu element insertions within the BRCA1/2 coding sequences
- 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.
- Conclusive evidence that the S384F variant of BRCA2 is not a disease causing mutation in breast cancer.
- Weight loss in early adult life (age 18 to 30) protects against early-onset BRCA2 associated breast cancers.
- large genomic deletions inactivate the BRCA2 gene in breast cancer families
- results of this study suggested that the polymorphism N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia
- BRCA2 mutations are associated with breast and ovarian cancer
- the Met1915Thr polymorphism in the BRCA2 gene may be considered as an independent marker of breast cancer
- The frequency of hereditary ovarian carcinoma is attributed to BRCA2 gene mutation.
- The data suggest applying an increased level of clinical alertness to those with defects in BRCA-related pathways.
- the data are not compatible with selective pressures during tumorigenesis promoting the functional loss of BRCA2 and MRE11 in microsatellite unstable tumors, but fit closely with an absence of selective pressures acting on BRCA2 and MRE11 gene status
- there is a decrease in p53 apoptotic rate associated with the No Ins-72Pro haplotype in BRCA2 mutation carriers
- Salpingo-oophorectomy, despite being quite a radical preventive method, might offer protection for the carriers against life-threatening silently-developing cancer.
- Recurrent BRCA2 mutations in French Canadian breast and/ovarian cancer families could be attributed to common founders.
- Carrying a BRCA1 or BRCA2 mutation is not a risk factor for spontaneous abortions but may be associated with frequency of induced abortion.
- Preeminent associations were identified in SNPs mapping to genes pivotal in the DNA damage-response and cell-cycle pathways, including ATM F858L and P1054R, CHEK2 I157T, BRCA2 N372H, and BUB1B Q349R.
- The effects of BRCA2 intron variants on mRNA splicing and expression.
- FANCG-XRCC3 and FANCG-BRCA2 interactions did not require the presence of other FA proteins from the core complex
- Carrier of mutant BRCA2 gene undergoes prophylactic mastectomy.
- 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.
- These results provide insight into the recently discovered diversity of BRCA2 domain structures in different organisms.
- evidence on the role of BRCA2 as a modulator of cancer cell growth and elucidation of the molecular mechanisms involved in its down-regulation in cancer cells when interacting with basement membranes
- Analysis resulted in the identification of 25 and 52 variants in the BRCA1 and BRCA2 genes, respectively in breast or ovarian cancer.
- two recurrent BRCA2 mutations predisposing to male breast cancer may facilitate the analyses aimed at the identification of mutation carriers in our geographic area
- BRCA2 mutation is common (9%) among unselected young breast cancer patients undergoing BCT.
- No BRCA1/2 genomic rearrangements found in high-risk French-Canadian breast/ovarian cancer families.
- Missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.
- PALB2 colocalizes with BRCA2 in nuclear foci, promotes its localization and stability in key nuclear structures (e.g., chromatin and nuclear matrix), and enables its recombinational repair and checkpoint functions
- The small group of patients with biallelic mutations in BRCA2 is distinctive in the severity of the phenotype, and early onset and high rates of leukaemia and specific solid tumours, and may comprise an extreme variant of Fanconi anaemia.
- 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.
- 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.
- BRCA2 participates in repair of replication-mediated double-strand breaks generated when replication forks encounter interstrand cross-link
- Identification of 13 novel variants including two deleterious truncating mutations and two potentially pathogenic missense mutations on the BRCA1 and BRCA2 genes
- Results suggest that breast tumours with mutations in BRCA2 or TP53 could be promising candidates for Aurora-A targeted treatment.
- BRCA2 mutation may have a role in developing hematologic malignancy
- Testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing predicts prevalence of breast and ovarian cancer.
- Prevalence of BRCA2 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.
- Human BRCA2 has multiple BRC repeats, motifs of approximately 30 residues, that associate in a ternary complex with RAD51 on single-stranded DNA and double-stranded DNA.
- 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.
- analysis of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC
- Novel and distinct BRCA2 deletions were detected in three families and their boundaries were determined.
- 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.BRCA2 overexpress some DNA repair. [REVIEW]
- Findings show that BRCA2 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.
- BRCA2 mutations appear to account for a lower proportion of breast cancer patients at increased risk of harboring such mutations in Northern India
- The 5164del4 BRCA2 mutation is not likely to be a founder mutation in non-Ashkenazi Jewish families with high risk of breast and ovarian cancer.
- 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
- These results identify a novel role for FoxM1 in the transcriptional response during DNA damage/checkpoint signaling and show a novel mechanism by which Chk2 protein regulates expression of DNA repair enzymes.
- Large genomic BRCA2 rearrangements were not found among our 36 Finnish male breast cancer patients
- 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.
- A novel BRCA2 frame-shift mutation, 3951del3insAT, which produces a protein truncated at codon 1258, was observed in six patients with BC from the same village in Sardinia.
- 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
- BRCA2 mutations are associated with breast ans ovarian cancer
- Results implicate BRCA2 in the regulation of the centrosome cycle and provide new insight into the aneuploid nature of many breast cancers.
- 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
- no evidence was found in this study for an association between BRCA2 mutations and susceptibility to hereditary prostate cancer in men selected from high-risk families
- substantial levels of aberrant methylation, in the fluid from the breasts of healthy BRCA mutation carriers
- BRCA2 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.
- Borderline ovarian tumors are neither part of the BRCA1- nor the BRCA2- related tumor spectrum.
- 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
- 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
- a total of 287 Greek breast/ovarian cancer families, 46 and 13 carry a deleterious mutation in BRCA1 and BRCA2, respectively.
- presence of BRCA1 and BRCA2 rearrangements among Asian patients with early onset or familial history of breast or ovarian cancer
- Regular surveillance in women at increased familial risk of breast cancer is associated with a good outcome if they carry BRCA2 mutations
- 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
- Novel germline mutations in BRCA2 gene is associated with hereditary breast and breast-ovarian cancer
- Productive recombination results from the functional balance between the different RAD51-binding modes of the BRC repeat and exon 27 regions of BRCA2.
- Interactions of the BRCA2 C-terminal region with RAD51 may facilitate efficient nucleation of RAD51 multimers on DNA and thereby stimulate recombination-mediated repair.
- BRCA2 is a universal regulator of RAD51/DMC1 recombinase actions
- The output 3D molecular structure from the combination between BRCA2-RAD51 is derived
- BRCA2 c.9079 G>A is not a predisposing variant for early onset breast cancer
- the Icelandic BRCA2 999del5 founder mutation was strongly associated with rapidly progressing lethal prostate cancer
- BRCA2 mutation carriers without cancer had increased breaks as well as breaks and gaps per cell
- 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]
- XRCC1 down-regulation in HeLa cells leads to a decrease in the DNA ligase 3 protein level, significantly increased sensitivity to alkylating agents, elevated level of sister chromatid exchange and decrease in the survival of BRCA2-deficient cells.
- High-risk patients with BRCA1-negative tumors should be screened first for BRCA2 gene.
- Mutations found in a significant proportion of women with ductal carcinoma in situ who presented for hereditary risk assessment.
- The researchers found 17 pathogenic changes in the BRCA2 genes in 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
- BRCA2-8765delAG has an independent origin in geographically and ethnically distinct populations, acting as a founder mutation in North but not in South Sardinia.
- From a population database of BRCA1 and 2 mutation carriers in Southwestern Ontario, Canada, we identified three women with advanced-stage endometrial cancer.
- The identified BRCA2 c.7806-9T > G [Genbank: DQ889340] was found to be pathogenic in a Chinese family, based on aberrant splicing events resulting in the formation of truncated protein products.
- 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.
- 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.
- Inactivation of a single gene within the BRCA2 pathway can increase risks for multiple cancers and inactivation of a different gene in the same pathway may have similar effects.
- ectopically BRCA2-expressing cells have different intracellular levels of Aurora A, Aurora B, p21, E2F-1, and pRb, suggesting a BRCA2-mediated suppression of polyploidy via stabilization of the checkpoint proteins levels
- Data indicate that BRCA2 are the major susceptibility genes for ovarian cancer but that other susceptibility genes may exist.
- Results suggest that protein-truncating BRCA2 mutations confer an elevated relative risk of early-onset prostate cancer
- A suspicious deleterious BRCA2 variant is identified in 15 of 197 cases of esophageal squamous cell carcinoma in the Iranian Turkmen population.
- The greatest proportion of serous cancer risk in BRCA mutation-positive women should be assigned to the fimbria rather than the ovary.
- the BRCA2 HH homozygous genotype might be positively associated with an increased risk of male breast cancer in men younger than 60 years.
- 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.
- Study found that Fanconi anemia pathway activation is triggered mainly by the HPV type 16 (HPV-16) E7 oncoprotein and is associated with an enhanced formation of large FANCD2 foci and recruitment of FANCD2 as well as FANCD1/BRCA2 to chromatin.
- Self-image and self-disclosure concerning prophylactic mastectomy (PM) for women with a BRCA1/2 mutation.
- prevalence of BRCA1 & BRCA2 mutations in breast cancer patients with affected relatives in Tunisia; two frameshift mutations (c.1309del4 and c.5682insA) were observed in BRCA2
- The clinical significance of 1,433 sequence variants of unknown significance (VUSs) in the BRCA genes, was assessed.
- Tumors are unlikely to arise directly from BRCA2 heterozygous cells without other genetic events such as loss of the wild-type BRCA2 allele and/or loss of p53 function or other cell cycle inhibitors.
- 5' UTR polymorphism in BRCA2 is associated with breast cancer, which is further influenced by the germline genetic backgrounds of codon 72 polymorphism of p53
- 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
- We found six differentially expressed proteins; among them, the checkpoint mediator protein MDC1 whose expression was disrupted in FANCC-/- cells.
- RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers.
- MDM2 SNP309 accelerates breast and ovarian carcinogenesis in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent.
- Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development.
- study describes a family with multiple cases of MEN1-associated cancers as well as pancreatic adenocarcinoma, ovarian cancer, and male breast cancer, in which we identified germline mutations in both MEN1 and BRCA2
- 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
- BRCA1/2 mutations predispose to early onset breast and ovarian cancers, modified by factors such as IGF-I.
- depletion of normal BRCA2 proteins in the cytoplasm leads to centrosome amplification and binucleated cells. Our results suggest that disruption of NES function by genetic changes results in deregulation of BRCA2 export, which leads to centrosome disorde
- BRCA2 mutations are associated with breast and ovarian cancer.
- BRCA1/2 mutations are significantly more common in Italian women who developed breast cancer
- analysis of breast cancer genes that may modify risk in BRCA1/2 mutation carriers
- Loss of heterozygosity of the BRCA2 gene region was found to be common in the cutaneous squamous cell carcinoma.
- 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
- Founder BRCA2 mutation is associated with male breast cancer
- study confirms that, among Ashkenazi ovarian cancer patients, BRCA1/2 mutations are associated with improved long-term survival
- BRCA2 protein is lost in carcinoma cells compared to normal and hyperplastic prostate epithelium
- 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
- In summary, BRCA2 clearly accounts for a proportion of LFS/LFL (Li-Fraumeni syndrome, LFS-like) families negative for TP53. mutations.
- Since BRCA1/2 mutation carrier status is associated with more aggressive disease, it is a prognostic factor for PRCA outcome.
- Mutation of BRCA2 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.
- FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.
- The 4088insA mutation appears to be associated with a favourable clinical course of breast and ovarian cancer
- 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
- This articles reviews the evidence for the association of BRCA2 polymorphisms and the development of breast neoplasms.
- BRCA2 mutation is associated with breast cancer
- Association between BRCA2 mutations and the presence of breast cancer in a Cuban population.
- The BRCA2 N372H and the IVS21-66T>C polymorphisms increase breast cancer risk.
- A novel BRCA2-interacting protein, BJ-HCC-20A, which is reported to be a potential cancer-testis antigen, was idenified.
- 56 mutations were identified in BRCA2 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.
- Chk1 and Chk2 regulate the functional associations between hBRCA2 and Rad51 in response to DNA damage
- Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases.
- 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.
- We studied 10 BRCA1 and 12 BRCA2 variants identified in Australian families with breast cancer.
- Down-regulation of BRCA2 leads to radio-sensitization mainly through the inhibition of homologous recombination repair type double-strand break repair.
- The most current evidence suggests that it may be more beneficial in those with BRCA2 mutations because tumors associated with these mutations are likely to be estrogen-receptor positive.
- BRCA2 may play an important role in the familial breast cancer in eastern Shandong Chinese population, but not in the early-onset breast cancer.
- Dinucleotide CA repeat polymorphism at RAD51 and BRCA2 gene regions might be associated with genetic susceptibility to breast cancer.
- A total of 14 BRCA1 and 17 BRCA2 sequence alterations, of which eight are novel, are reported.
- BRCA2 mutation may not contribute to increases in the risk for both sporadic and familial pancreatic cancer in Korea.
- caspase 3 cleavage of Rad51 resulted in a functional decrease in Rad51 strand exchange activity and that inhibition of caspase 3 activity increased Rad51 protein levels and Rad51 foci
- BRCA2 gene mutation was identified in 4 male breast cancer (MBC) patients; 3 carried the Slovenian founder mutation IVS16-2A>G; all 4 mutations were confined to patients with a family history of breast cancer
- In Ashkenazi Jews, mutations in BRCA1/2 may constitute a major cause for pancreatic cancer.
- These observations are consistent with the idea that BRCA2, but not BRCA1, is a tumor suppressor of prostate cancer.
- An excellent method for identifying inactivating missense mutations in the BRCA2 DBD predicting likelihood of cancer in carriers.
- 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 BRCA2 gene in the Czech population
- BRCA1 and BRCA2 mutation carriers had similar expression profiles, with some subclustering of missense mutation carriers.
- No large genomic rearrangements were identified in BRCA2 in Finnish breast and/or ovarian cancer families
- A case-control study is reported on infertility, treatment of infertility, and the risk of breast neoplasms among women with BRCA2 mutations.
- There is a highly significant reduction in life expectancy in BRCA1 compared to BRCA2 carriers in ovarian cancer.
- BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.
- The median survival from diagnosis of prostate cancer was 4.0 years for men with a BRCA2 mutation vs 8.0 years for men with a BRCA1 mutation, and the difference was highly significant.
- A syngeneic variance library for functional annotation of human variation in BRCA2.
- the novel BRCA2 splice variant is a de novo mutation introduced in the male spermatozoa that can be classified as a disease causing mutation
- BRCA2 deficiency is partially rescued by Rad51 overexpression
- alteration in RAD51 region may contribute to the disturbances of DNA repair involving RAD51 and/or BRCA2 penetration and thus enhance the risk of breast cancer development.
- characterized BRCA1 and BRCA2 gene polymorphic variants in familial breast cancer
- BRCA1 and BRCA2 genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%
- 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 recruiment strategies is reported.
- Different from ERbeta, p53 interacts with HDAC1 and CtBP1 and forms an inhibiting transcriptional complex that could compete for binding to Sp1 sites with ERalpha transcriptional complex and inhibit BRCA2 transcription more significantly
- Methylation status of CpG islands at sites -59 to +96 in exon 1 varies in mammary tissue among women with sporadic breast cancer
- 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
- a link between CHEK2 and BRCA2 pathways
- possible relationship between defects in the FA/BRCA pathway of genomic stability and potential pathogenesis of T and B cell lymphoma.
- 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.
- C-terminally truncated BRCA2 hinders RAD51 nuclear translocation, possibly contributing to genetic instabilities in homozygous as well as heterozygous individuals.
- germ-line BRCA1 or BRCA2 mutations may have a role in response to primary platinum-based chemotherapy
- Parp-1 down-regulates BRCA2 expression through an interaction with a repression region of the BRCA2 promoter
- Carriers of mutations in the genes BRCA1/2 may present a specific high risk group for PABC especially at younger ages.
- Cross-sectional analysis of germ-line BRCA2 mutations in Japanese patients suspected to have breast/ovarian cancer is reported.
- analysis of the effectiveness of screening in diagnosing early stage ovarian cancer in BRCA1 and BRCA2 mutation carriers
- Consistent with previous reports, BRCA2 mutations are associated with an increased risk of PAC.
- BRCA2 gene mutation is associated with breast and ovarian cancer.
- The BRCA2 gene, found on the long arm of chromosome 13, encodes for an even larger protein of 3418 amino acids.BRCA 1 and 2 mutations account for 5% to 10% of breast cancer cases.
- BARD1 has BRCA1-dependent and BRCA1-independent functions in mitosis. BARD1, but not BRCA1, localizes to the midbody at telophase and cytokinesis, where it colocalizes with Aurora B.