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breast-ovarian cancer familial type 2 (BROVCA2)

This cancer results from heterozygous germline mutations in the BRCA2 gene (600185) on chromosome 13q12.3.

Hall et al. (2009) examined a comprehensive database of BRCA1/BRCA2 testing in the United States compiled over about 10 years (1996 to 2006). Full-sequence testing of the genes was performed in 46,276 women who met eligibility criteria. The largest ethnic subgroup was of Western or Central European ancestry (87.1%), followed by Latin American (4.2%), African (3.8%), Asian (2.6%), Native American (1.3%), and Middle Eastern (1.1%) ancestry. Individuals of Ashkenazi Jewish origin were excluded. Women of non-European descent were younger (mean age of 45.9 years) than European women (mean age of 50 years) at age of testing. Mutations were identified in 12.5% of women overall, but those of African and Latin American ancestries had significantly higher prevalences of deleterious BRCA1 and BRCA2 mutations (15.6% and 14.8%, respectively) compared with women of Western European ancestry (12.1%), primarily because of an increased prevalence of BRCA1 mutations in the former 2 groups. Overall, BRCA1 mutations were more common than BRCA2 mutations for every ethnicity except Asian, in which the frequency was equal (about 6.3% for each gene). The most common recurrent mutation in the BRCA2 gene was 6174delT (600185.0009), accounting for 4.5% of all mutations among Central Europeans.

OTHER NAME(S): Fanconi anemia group D1 protein


TYPE: blood cell cancer, risk of malignant disease, CANCER, breast cancer

Related patway(s): Fanconi anemia (FA) pathway, homologous recombination (HR)

DNAtraffic protein(s) related to disease: BRCA2 (FANCD1)

OMIM: 612555

Last modification date: Aug. 22, 2011