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
RS80359327 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359328 Health Risk Pathogenic Prostate cancer, Breast-ovarian cancer, familial
RS80359329 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359330 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359331 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359332 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359333 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359334 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359335 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359336 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359339 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359340 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359341 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359342 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS80359343 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359344 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359345 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359346 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359347 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359348 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359349 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359350 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359351 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359353 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359354 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359355 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359356 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359357 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359358 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359359 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359361 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359364 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359365 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359367 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359368 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359369 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359370 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359371 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359372 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359373 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359374 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359375 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS80359377 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359378 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359379 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359380 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359381 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359382 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359383 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359384 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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