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
RS886040819 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040820 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040821 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040822 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040823 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040824 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040825 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040826 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040827 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040828 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040829 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040830 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS886040831 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040832 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040833 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040834 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040835 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040836 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040837 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040838 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040839 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040840 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040841 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040842 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040843 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040844 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040845 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040847 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040848 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040849 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040850 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040851 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040852 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040853 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040854 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040867 Health Risk Pathogenic Breast and/or ovarian cancer, Breast-ovarian cancer, familial
RS886040923 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040925 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040926 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040929 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040930 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040931 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040936 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040940 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040943 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040944 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040945 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040950 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040951 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040952 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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