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
RS80359561 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359562 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359563 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359564 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359565 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359566 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359567 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359568 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359569 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359570 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359571 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359572 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359573 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359574 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359575 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359576 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359577 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359579 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359580 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359582 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359583 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359584 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359586 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359587 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359589 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359590 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359591 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359592 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359593 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359594 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359596 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359598 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359599 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359600 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359601 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359603 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359604 Health Risk Pathogenic Medulloblastoma, Fanconi anemia complementation group D1, Wilms tumor 1
RS80359605 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359606 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359607 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359608 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359609 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359610 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359611 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359612 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359613 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359614 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359615 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359616 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359617 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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