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
RS80359618 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359619 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359620 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359621 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359622 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359623 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359624 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359625 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359626 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359628 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359629 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359630 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359631 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359632 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359634 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359635 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359636 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359637 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359638 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359639 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359641 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359642 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359643 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359644 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359645 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359646 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359647 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359648 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359649 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359650 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359651 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359652 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359653 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359654 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359656 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359657 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359659 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359660 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359661 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359662 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359663 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359664 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359665 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359666 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359667 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359668 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359669 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359670 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359671 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359672 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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