Recombinant Human Breast cancer type 2 susceptibility protein (BRCA2), partial

1. Evidence has been provided that the majority of the Cas9-induced single nicks at the target DNA strand rely on RAD51 and BRCA2 for efficient and scar-less DNA repair. PMID: 28067217
2. It has been shown that BRCA2-mutant prostate cancer cells harbor increased genomic instability and a mutational profile that more closely resembles metastatic than localized disease. PMID: 28067867
3. Germline mutations involving the Fanconi anemia pathway, such as BRCA2 are often implicated in Invasive Pancreatic Ductal Adenocarcinoma. PMID: 28870368
4. The authors propose that BRCA2 antagonizes 53BP1, RIF1, and Artemis-dependent c-nonhomologous end-joining and alt-nonhomologous end-joining to prevent gross genomic instability in a RAD51-independent manner. PMID: 29133916
5. region in the N terminus exhibits DNA binding activity and promotes RAD51-mediated homologous recombination PMID: 27628236
6. BRCA2 germ line mutation is associated with unilateral triple-negative breast cancer. PMID: 29514593
7. BRCA2 germ line mutation is associated with ovarian cancer. PMID: 29506471
8. BRCA1/2 mutations are not uncommon among selected Jordanian females with breast cancer. PMID: 29409476
9. male BRCA1/2 mutation carriers with breast and prostate cancer demonstrated a favorable 5-year survival. PMID: 29433453
10. BRCA2 SNP is associated with Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas. PMID: 29298688
11. this study identifies the importance of TDP1 as a novel determinant of response to CNDAC across various cancer types (especially non-small cell lung cancers), and demonstrates the differential involvement of BRCA2, PARP1, and TDP1 in the cellular responses to CNDAC, AraC, and CPT PMID: 28802254
12. No evidence for a an association between the genotype at BRCA2 c.6937 + 594T>G and breast cancer risk. PMID: 29356578
13. the physiological significance of GIPC3 as a genetic interactor of BRCA2 is supported by the observation that Brca2-null embryos with Gipc3 overexpression are developmentally more advanced than their control littermates. Taken together, we have uncovered a novel role for GIPC3 as a BRCA2 genetic interactor. PMID: 29021281
14. BRCA2 mutation carriers showed earlier onset age of breast tumor and higher risk of developing contra lateral breast cancer in women from Murcia (south-eastern Spain). PMID: 28477318
15. Results, including a comprehensive co-segregation analysis, indicate that the novel duplication identified has a pathogenic role and would be considered a causing-disease variant in genetic and oncologic counseling. PMID: 28620890
16. In our EOBC cohort, a contralateral breast cancer was diagnosed in ~60% of BRCA1/2 carriers, but only in 8% of non-carriers. These findings show that BRCA1/2 mutations overwhelmingly lead to a contralateral disease when breast cancer is diagnosed at early age. PMID: 27726213
17. Results showed that BRCA2 is down-regulated in epithelial ovarian cancer by lncRNA RP11-552M11.4 which promotes cell proliferation, migration and invasion. PMID: 29478268
18. BRCA2 and CHEK2 play an important role in the genetic susceptibility to urinary tract cancers. PMID: 27632928
19. The present study shows that the G allele carriers of BRCA2 rs9534275 were associated with increased serum total cholesterol and ApoB levels in the coronary artery disease patients and increased risk of coronary artery disease and ischemic stroke. PMID: 28982360
20. BRCA2 rs144848 polymorphism is associated with cancer. PMID: 28418854
21. Tumours arising in BRCA2 mutation carriers showed significantly higher methylation of candidate genes, than those arising in non-BRCA2 familial MBCs (average AMI 23.6 vs 16.6, p = 0.01, 45% of genes hypermethylated vs 34%, p < 0.01). PMID: 28893223
22. role of BRCA2 splicing for acquired chemo-resistance in BRCA2 mutation associated malignancy PMID: 28617445
23. Results show frequent BRCA2, EGFR, and NTRK1/2/3 mutations in mismatch repair-deficient colorectal cancers , sugggesting personalized medicine strategies to treat the patients with advanced disease who may have no remaining treatment options. PMID: 28591715
24. In this study, we evaluated this novel mechanism of drug resistance in newly diagnosed, early-stage BRCA1/2-mutant breast cancer patients who had a poor response to platinum-based neoadjuvant chemotherapy. PMID: 28087643
25. IGH/MYC-positive Burkitt lymphoma/leukemia cells have decreased BRCA2 and are sensitive to PARP1 inhibition alone or in combination with other chemotherapies. This study postulates that IGH/MYC-induced BRCA2 deficiency may predispose Burkitt lymphoma cells to synthetic lethality triggered by PARP1 inhibitors. PMID: 28634224
26. This meta-analysis showed that a BRCA2 mutation predicted poor survival outcomes in patients with prostate cancer, especially in those undergoing treatments with radiotherapy. Therefore, the use of BRCA2 mutation as a clinical prognostic factor could help stratify the high-risk patients and provide clinical strategies for more effective targeted treatments for patients with prostate cancer. PMID: 28410213
27. The clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system was employed to target and correct a FANCD1 gene deletion. The study shows the ability to correct a patient mutation in primary FANCD1 cells in a precise manner. PMID: 28613254
28. Data indicate that c.1310_1313delAAGA mutation of BRCA2 gene is recurrent with high frequency in patients from the North-East region of Morocco. PMID: 28577564
29. Patients with BRCA2 mutation were almost 25 times more likely to have chronic pancreatitis-like changes compared with sex-matched controls. PMID: 28375947
30. Prevalence of pathogenic and likely pathogenic variants in the hotspots regions of BRCA2 was 23 and 6.3 % respectively in this cohort PMID: 28039656
31. We present two cases of black South African patients with FA diagnosed with biallelic BRCA2 mutations and discuss the phenotypic consequences and implications for them and their families PMID: 28185119
32. High BRCA2 expression is associated with drug resistance in ovarian cancer. PMID: 26959114
33. IMPACT data were consistent with increased risks of onset among BRCA1 and BRCA2 mutation carriers PMID: 27742670
34. In the very high-risk Bladder Cancer patients , several genes had a higher frequency of mutations than reported in the The Cancer Genome Atlas database, including BRCA2 . Mutation associations with receipt of neoadjuvant chemotherapy, nodal involvement, metastatic disease development, and survival were analyzed. PMID: 27520487
35. three patients had biallelic inactivation of BRCA2, a tumor suppressor gene critical for homologous DNA repair. two had germline BRCA2 mutations. The third patient had somatic BRCA2 homozygous copy loss. Biallelic BRCA2 inactivation in Metastatic Castration-resistant Prostate Cancer warrants further exploration as a predictive biomarker for sensitivity to platinum c PMID: 26724258
36. The current model places BRCA2 as a central regulator of genome stability by repairing DNA double strand breaks and limiting replication stress. [review] PMID: 27530658
37. Increasing evidence on the molecular role of the BRCA2 protein in the homologous recombination of DNA damages suggest that BRCA2-related PDAC are sensitive to agents causing DNA cross-linking damage, such as platinum salts, and treatments targeting rescue DNA repair pathways, such as poly(ADP-ribose) polymerase inhibitors that are currently under investigation.[ review] PMID: 27511924
38. Data show that BRCA2 was required for HDAC2/3 association with acetylated BubR1 in nocodazole (Noc)-arrested cells. PMID: 28985013
39. Data show that mammary epithelial cells are inviable upon BRCA2 loss, which leads to replication stress associated with under replication, causing mitotic abnormalities and G1 arrest. PMID: 28904335
40. We demonstrated an association between six previously published single nucleotide polymorphisms (rs15869 [ BRCA2], rs1805389 [ LIG4], rs8079544 [ TP53], rs25489 [ XRCC1], rs1673041 [ POLD1], and rs11615 [ ERCC1]) and subsequent CNS tumors in survivors of childhood cancer treated by radiation therapy. PMID: 28976792
41. Patients with Fanconi anemia have higher incidences of ectopic neurohypophysis, adenohypophysis hypoplasia, platybasia and other midline central nervous system skull base posterior fossa abnormalities than age- and sex-matched controls. Patients with posterior fossa abnormalities, including pontocerebellar hypoplasia, are more likely to have biallelic BRCA2 mutations. PMID: 28283722
42. CDNA representing BRCA2 alternate splice sites was amplified. PMID: 27060066
43. WTIP interacts with BRCA2 and might be responsible for BRCA2 centrosome localization in cervical cancer cell. PMID: 27535760
44. Founder mutations in BRCA2 contribute to an increased risk of ovarian and breast cancer in the western Danish population. PMID: 26833046
45. BRCA2 germline mutation is associated with triple-negative breast cancer. PMID: 27553291
46. BRCA2 c.68-7T>A pathogenic mutation from Norwegian breast or ovarian cancer cohort PMID: 27495310
47. Architectural plasticity of human BRCA2-RPA-RAD51 complexes in DNA break repair has been described. PMID: 28168276
48. These findings suggest that R2787H variant of BRCA2 could have potential functional impact. PMID: 27211102
49. Even if a BRCA2 mutation is already identified within a family, the presence of early onset breast cancer affected non-carriers hampers accurate risk estimates for both mutation carriers and other negative family members. PMID: 28199346
50. This study detected monoallelic L1053X mutation causing the same stop codon in BRCA2 protein sequence at the same position in four Sudanese female breast cancer patients out of nine from different families. PMID: 28814288

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HGNC: 1101

OMIM: 114480

KEGG: hsa:675

STRING: 9606.ENSP00000369497

UniGene: Hs.34012