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
RS886040418 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040422 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040423 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040424 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040425 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040426 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040427 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040428 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040429 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040430 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040431 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040432 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040433 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040435 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040436 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040437 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040438 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040439 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040440 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040441 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040442 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040443 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040444 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040445 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040446 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040447 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040448 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040449 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040450 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040451 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040452 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040453 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040455 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040456 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040458 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040460 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040461 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040463 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040464 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040465 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040466 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040468 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040469 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040470 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040471 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040472 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040473 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040474 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040475 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040476 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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