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
RS886038091 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038092 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038093 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038094 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038095 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038096 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038098 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038102 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038103 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038104 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038105 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038106 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038107 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038108 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038112 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038113 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038115 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038116 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038118 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038120 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038121 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038123 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038124 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038125 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038130 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038133 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038134 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038135 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038136 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038137 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038138 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038139 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038140 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038141 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038143 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038144 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038145 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038146 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038149 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038150 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038151 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038153 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038154 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038155 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038156 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038158 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038159 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038160 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038162 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038163 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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