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
RS41293503 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS41293509 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS431825288 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825291 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825292 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825294 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825298 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS431825300 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825305 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825307 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825315 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825319 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825321 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825323 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825325 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825330 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825338 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825342 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825343 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825350 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS431825371 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS45555831 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS45580035 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS45619134 Health Risk Pathogenic —
RS483353072 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS483353077 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast neoplasm, Breast-ovarian cancer
RS483353081 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353082 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353110 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353111 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353112 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353115 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353118 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353119 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS483353122 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS4987049 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS535547513 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS55763607 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS55977008 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS56383036 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS572945276 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587776351 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS587776467 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS587778124 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587779349 Health Risk Pathogenic Ateleiotic dwarfism, Breast-ovarian cancer, familial
RS587779362 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS587779363 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS587779364 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS587780652 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587780653 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
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