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
RS398122541 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122545 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122546 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122555 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122556 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122557 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122558 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122559 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122565 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS398122571 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122576 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122593 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122599 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122601 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122605 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122608 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122609 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122610 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122612 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122618 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122622 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122623 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122714 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122715 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122726 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122729 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122733 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122737 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122741 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122742 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122744 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122747 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122748 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122749 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122752 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122753 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122762 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122763 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122772 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122775 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122777 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122779 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122783 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122789 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122790 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122793 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS398122796 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS41293477 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS41293489 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS41293497 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
« Prev 1 ... 132 133 134 135 136 137 138 ... 172 Next »
Sign Up to Analyze Your DNA Log In