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
RS886038164 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038165 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038166 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038169 Health Risk Pathogenic Fanconi anemia complementation group D1, Breast-ovarian cancer, familial
RS886038170 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS886038171 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038172 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038173 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038175 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038176 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038177 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038178 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038179 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038180 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038182 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038183 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038184 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038186 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038187 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038188 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038189 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038191 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038192 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886038194 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039318 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS886039319 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS886039320 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886039504 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040339 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040340 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040341 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040343 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040344 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040345 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040346 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040348 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040349 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040350 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040351 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040352 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040353 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040354 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040355 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040356 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040357 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040358 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040360 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040361 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040363 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS886040364 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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