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
RS397507866 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS397507867 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS397507875 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS397507923 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS397507924 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, 8 conditions
RS397507926 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS397507948 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS397507960 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS397507966 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Breast-ovarian cancer, familial
RS397507996 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS397508002 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS397508008 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS397508009 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS397508016 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS397508047 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS397508060 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122528 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122532 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122533 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122534 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122536 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122538 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122542 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122544 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122547 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122548 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122549 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122550 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122551 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122552 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS398122554 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122560 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122561 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122564 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122569 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122570 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Gastric cancer
RS398122572 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122574 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122575 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122577 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122580 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122581 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122582 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122584 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122585 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122586 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122587 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122590 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122595 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
RS398122596 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to
« Prev 1 ... 45 46 47 48 49 50 51 ... 172 Next »
Sign Up to Analyze Your DNA Log In