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
RS398122597 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122598 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122600 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122603 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122606 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122611 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122613 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122614 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122615 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122617 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122619 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122620 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122624 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122712 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122713 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122716 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122717 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS398122718 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122719 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122722 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122724 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122725 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122727 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122730 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122731 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122732 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122734 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122735 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122736 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122738 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122739 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122740 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122743 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122745 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122746 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122750 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS398122751 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122754 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122755 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122756 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122757 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122758 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122759 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122761 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122765 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122766 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122767 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122768 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122770 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122773 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
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