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
RS276174896 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174897 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174900 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174901 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174902 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174903 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174904 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174907 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174910 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174912 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174913 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174914 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174915 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS276174916 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS276174918 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174925 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS276174931 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS28897759 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS34575057 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS368055906 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS368952892 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS370591460 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS371067421 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS374191973 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS377698594 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507262 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507265 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507266 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507272 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507275 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507282 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507284 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507285 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507286 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507290 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507291 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507300 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507303 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507304 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507305 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507317 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507318 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507320 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507321 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507322 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507323 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507328 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507331 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507332 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507333 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
« Prev 1 ... 123 124 125 126 127 128 129 ... 172 Next »
Sign Up to Analyze Your DNA Log In