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
RS80359673 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359674 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359676 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359677 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359678 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359679 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359681 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359683 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359684 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359685 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359686 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359688 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359689 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359690 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359691 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359692 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359693 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359694 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359695 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359696 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359697 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359699 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359700 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359701 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359704 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359705 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359706 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359707 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359708 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359709 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359710 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359711 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359712 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359713 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359714 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359717 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359718 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359719 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359720 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359721 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359722 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359723 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359724 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359725 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359726 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359727 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359728 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359729 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359730 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359731 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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