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
RS80359385 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359386 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359387 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359388 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359389 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359390 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359391 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359393 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359394 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359395 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359396 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359397 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359398 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359400 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359401 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359402 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359403 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359404 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359405 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359406 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359410 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359412 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359415 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359416 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359417 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359418 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359419 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359420 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359421 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359422 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359423 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359424 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359425 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359426 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359427 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359428 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359429 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359430 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359431 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359433 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359434 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359435 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359436 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359437 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359438 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359439 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359441 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359443 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80359444 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80359446 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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