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
RS80359732 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359733 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359734 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359735 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359737 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359738 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359739 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359741 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359742 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359743 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359744 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359745 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359746 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359747 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359748 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359750 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359751 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359753 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359754 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359755 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359756 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359757 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359758 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359759 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359760 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359761 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359762 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359763 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359764 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359766 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359767 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359769 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359770 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359772 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS80359773 Health Risk Pathogenic Fanconi anemia complementation group D1, Breast-ovarian cancer, familial
RS80359774 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359776 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359777 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359791 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS80359808 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002795 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002797 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002798 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002802 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002805 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002809 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002812 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002823 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002837 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS81002840 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
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