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
RS80359269 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359270 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359271 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359272 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359273 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359274 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359275 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359276 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359277 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359278 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359281 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359282 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359283 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359284 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359285 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359286 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359287 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359288 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359289 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359291 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359292 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359293 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359294 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359295 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359296 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359297 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359298 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359299 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359300 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359301 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359302 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359303 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast, Breast-ovarian cancer
RS80359304 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359306 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359310 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359311 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359313 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359314 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359315 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359316 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359317 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359318 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359319 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359320 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359321 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359322 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359323 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359324 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359325 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359326 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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