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
RS398122774 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122776 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS398122780 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122781 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122782 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122784 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122786 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122787 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122788 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122791 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122792 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122794 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS41293475 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS41293479 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS41293481 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS41293485 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS41293487 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS41293493 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS41293499 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS41293501 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS41293505 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS41293507 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS41293511 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS41293517 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825277 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825278 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825280 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825281 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825282 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825284 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825285 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825286 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825287 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825290 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825293 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825295 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825296 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825297 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825299 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825301 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825302 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825303 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825304 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825306 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825308 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825309 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825310 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825311 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825316 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS431825317 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
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