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
RS886040713 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040714 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040715 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040716 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040717 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040719 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040720 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040721 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040722 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040723 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040724 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040725 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040726 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040727 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040728 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040729 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040730 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040731 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040732 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040733 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040734 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040735 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040736 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040737 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040738 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040739 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040740 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040742 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040743 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040744 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040745 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040746 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040747 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040748 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040749 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040750 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040751 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040752 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040753 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040755 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040756 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040757 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040758 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040759 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040760 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040761 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040762 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040763 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040764 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040765 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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