BRCA2 Chromosome 13

BRCA2 DNA repair associated
8590 variants 8590 Health Risk

Upload your DNA to see your personal genotypes for variants in BRCA2.

What This Gene Does
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]
Gene Info
Gene Group
FA complementation groups
Locus Type
gene with protein product
Location
13q13.1
Ensembl
ENSG00000139618
Associated Conditions (95)
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer
familial
susceptibility to
2
8 conditions
BRCA2-related cancer predisposition
Familial cancer of breast
Hereditary cancer
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
1
Breast neoplasm
Malignant tumor of urinary bladder
BRCA2-related disorder
Malignant tumor of breast
Familial pancreatic carcinoma
Familial colorectal cancer type X
Familial prostate cancer
+75 more conditions
Key Variants
RS1000398743
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
RS1005568368
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
Health Risk
RS1006688520
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
Health Risk
RS1007336407
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1010143466
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1015087797
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, BRCA2-related cancer predisposition
Health Risk
RS1020818778
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1023705162
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1028371302
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1032226790
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Breast-ovarian cancer
Health Risk
RS1036091086
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1036870835
Conflicting classifications of pathogenicity
Fanconi anemia complementation group D1, Breast-ovarian cancer, familial
Health Risk
All Variants (8590)
RSID Category Clinical Significance Conditions
RS80359503 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359505 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359506 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359507 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359510 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359512 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359513 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359514 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359515 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359516 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359517 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359518 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359519 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS80359520 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359522 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359523 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359524 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359525 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359526 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359527 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359528 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359529 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359530 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359532 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359533 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359534 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359535 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359536 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359537 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359538 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359539 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359540 Health Risk Pathogenic Prostate cancer, Breast-ovarian cancer, familial
RS80359541 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359542 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359543 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359545 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359546 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359547 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359548 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359549 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359550 Health Risk Pathogenic Pancreatic cancer, susceptibility to, 2
RS80359551 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359552 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359553 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359554 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359555 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359556 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359557 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359558 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359559 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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