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
RS2548562386 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548562468 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548562544 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548563661 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS2548563744 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548563785 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548563794 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS2548564652 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548564685 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548564773 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548564784 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548564800 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548564872 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2549554387 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174809 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174811 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174813 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174815 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174819 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174822 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174823 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174824 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174825 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS276174826 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174833 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174838 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174839 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174842 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174843 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174846 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174847 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174852 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174853 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS276174854 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174857 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174858 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174859 Health Risk Pathogenic Fanconi anemia complementation group D1, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS276174860 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174861 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174864 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174865 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174866 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174867 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174868 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174871 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174872 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174874 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174875 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174889 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174890 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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