title: BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.
abstract: Germline mutations in BRCA1 and BRCA2 account for majority of hereditary breast and ovarian cancer. The complete coding sequence analysis of both genes was carried out in 197 breast/ovarian cancer patients from high-risk families and 53 patients with sporadic breast/ovarian cancer. In summary, 59 mutations (16 different) in BRCA1 and 29 mutations (17 different) in BRCA2 were identified in unrelated breast and/or ovarian index cases. Using the BIC Database numbering, the most frequently found mutations in BRCA1 were c.5385dupC (22 cases), c.3819_3823delGTAAA (8 cases) and c.300T>G (6 cases). The most frequently found mutations in BRCA2 were c.8138_8142delCCTTT (7 cases) and c.8765_8766delAG (7 cases). Altogether, these 5 mutations represented 56.8% of all detected mutations. A broad spectrum of other mutations was detected including four novel mutations (c.2881delA in BRCA1; and c. 6677_6678delAA, c.6982dupT and c.8397_8400dupTGGG in BRCA2). Deleterious mutations were found in 80 (40.6%) of 197 high risk-families, in 6 (37.5%) of 16 patients with sporadic bilateral breast, ovarian or both cancers and in 2 (6.2%) of 32 women with sporadic early-onset unilateral breast cancer. No mutation was detected in 5 cases of sporadic early-onset unilateral ovarian cancer.
authors.affiliation: Department of Cancer Epidemiology and Genetics, and Laboratory Medicine, Masaryk Memorial Cancer Institute, Zluty kopec 7, Brno, 656 53 Czech Republic. foretova@mou.cz
authors.forename: Lenka
authors.initials: L
authors.lastname: Foretova
authors.forename: Eva
authors.initials: E
authors.lastname: Machackova
authors.forename: Marie
authors.initials: M
authors.lastname: Navratilova
authors.forename: Hana
authors.initials: H
authors.lastname: Pavlu
authors.forename: Marcela
authors.initials: M
authors.lastname: Hruba
authors.forename: Miroslava
authors.initials: M
authors.lastname: Lukesova
authors.forename: Dalibor
authors.initials: D
authors.lastname: Valik
mesh_terms: D000328:Adult; D017668:Age of Onset; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018153:Czech Republic / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*