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
RS397507334 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507344 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507346 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507351 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507353 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507355 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507356 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507357 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507362 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507369 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507371 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507373 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507375 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507383 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507385 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507386 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507387 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507395 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507396 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507400 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507402 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507404 Health Risk Pathogenic Fanconi anemia complementation group D1, Breast-ovarian cancer, familial
RS397507406 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507409 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507410 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507411 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507416 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507418 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507422 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507424 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507430 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507437 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507569 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS397507570 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507571 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507573 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS397507574 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS397507577 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507578 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS397507580 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507583 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507584 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS397507586 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS397507587 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS397507588 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507589 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS397507591 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507592 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507593 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507594 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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