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
RS879255329 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255331 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255332 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255333 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255437 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255440 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255441 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255442 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255450 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255452 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255453 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255457 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255460 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS879255469 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886037797 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS886037798 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer, familial
RS886037799 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886037800 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer, familial
RS886037801 Health Risk Pathogenic Breast neoplasm, Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS886037803 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer, familial
RS886037804 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer, familial
RS886037805 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886037818 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038047 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038050 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038053 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038054 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038055 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038056 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038057 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038058 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038059 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038060 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038061 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038062 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038063 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038064 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038065 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038066 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038067 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038068 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038070 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038071 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038074 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038075 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038076 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038077 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038082 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038084 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038089 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
« Prev 1 ... 152 153 154 155 156 157 158 ... 172 Next »
Sign Up to Analyze Your DNA Log In