title: The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
abstract: In Brazil, several recurring mutations in BRCA1 and BRCA2 and a TP53 mutation (R337H) have been reported in high risk breast cancer cases. We hypothesized that these recurring mutations may also be detected in the general population and ovarian cancer cases in the state of Minas Gerais. To test this notion, participants were recruited from the outpatient and the Gynecological clinic in the UFMG Medical Center in Belo Horizonte, Minas Gerais, Brazil. BRCA1 (c.68_69delAG, c.5266dupC, c.181T>G, c.4034delA, c.5123C>A), BRCA2 (c.5946delT, c.8537_8538delAG, 4936_4939delGAAA), the c.156_157insAlu* BRCA2 and the c.1010G>A *TP53 mutation were genotyped using validated techniques. Overall, 513 cancer free participants (273 men) (mean age 47.7 ± 15.1 years) and 103 ovarian cancer cases (mean age at diagnosis 58.7 ± 9.6 years) were studied. None of the participants were found to carry any of the genotyped mutations. We conclude that the recurring mutations in BRCA1, BRCA2 and TP53 cannot be detected in the general population or consecutive ovarian cancer cases in this geographical region in Brazil.
authors.affiliation: Susanne Levy-Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Hagit
authors.initials: H
authors.lastname: Schayek
authors.affiliation: Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte 30130-100, Brazil.
authors.forename: Luiz
authors.initials: L
authors.lastname: De Marco
authors.affiliation: Susanne Levy-Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Sigal
authors.initials: S
authors.lastname: Starinsky-Elbaz
authors.affiliation: Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte 30130-100, Brazil.
authors.forename: Mariana
authors.initials: M
authors.lastname: Rossette
authors.affiliation: Susanne Levy-Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Yael
authors.initials: Y
authors.lastname: Laitman
authors.affiliation: Department of Basic Sciences, Universidade Federal de Juiz de Fora, Governador Valadares, MG 35010-177, Brazil.
authors.forename: Luciana
authors.initials: L
authors.lastname: Bastos-Rodrigues
authors.affiliation: Department of Gynecology and Obstetrics, Universidade Federal de Minas Gerais, Belo Horizonte 30130-100, Brazil.
authors.forename: Agnaldo Lopes
authors.initials: AL
authors.lastname: da Silva Filho
authors.affiliation: Susanne Levy-Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: eitan.friedman@sheba.health.gov.il.
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D016158:Genes, p53; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000453:epidemiology / Q000235:genetics; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
keywords: Population screening; TP53 founder mutation; consecutive ovarian cancer cases; high risk families; recurring BRCA mutations