title: Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
abstract: In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA). If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening, respectively, and 7 for CHEK2 1100delC testing. A deleterious BRCA2 mutation was identified in one of the HBOC probands and the CHEK2 1100delC mutation occurred in one of the HBCC families. No deleterious germline alterations were identified in BRCA1 or TP53. Although strict inclusion criteria and a comprehensive testing approach were used, the suspected genetic risk in these families remains unexplained. Further studies in a larger cohort are necessary to better understand the genetic component of hereditary breast cancer in Southern Brazil.
authors.affiliation: Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.|Laboratório de Medicina Genômica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.|Cluster of Molecular Carcinogenesis, International Agency for Research on Cancer, Lyon, France.|Centro de Pesquisa em Oncologia Molecular, Hospital de Câncer de Barretos, Barretos, SP, Brazil.|Faculdade de Ciências da Saúde Dr. Paulo Prata, São Paulo, SP, Brazil.
authors.forename: Edenir Inêz
authors.initials: EI
authors.lastname: Palmero
authors.affiliation: Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.|Laboratório de Medicina Genômica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Bárbara
authors.initials: B
authors.lastname: Alemar
authors.affiliation: Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.|Serviço de Genética Médica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.|Departmento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Lavínia
authors.initials: L
authors.lastname: Schüler-Faccini
authors.affiliation: Cluster of Molecular Carcinogenesis, International Agency for Research on Cancer, Lyon, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Hainaut
authors.affiliation: Centro de Pesquisa Experimental, Instituto de Educação e Pesquisa Albert Einstein, São Paulo, SP, Brazil.|Departmento de Imunologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Moreira-Filho
authors.affiliation: Laboratório de Medicina Genômica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Ingrid Petroni
authors.initials: IP
authors.lastname: Ewald
authors.affiliation: Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.|Laboratório de Medicina Genômica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Patricia Koehler Dos
authors.initials: PK
authors.lastname: Santos
authors.affiliation: Laboratório de Medicina Genômica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Patricia Lisbôa Izetti
authors.initials: PL
authors.lastname: Ribeiro
authors.affiliation: Serviço de Genética Médica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Cristina Brinkmann de Netto
authors.initials: CB
authors.lastname: Oliveira
authors.affiliation: Cluster of Molecular Carcinogenesis, International Agency for Research on Cancer, Lyon, France.
authors.forename: Florence Le
authors.initials: FL
authors.lastname: Calvez-Kelm
authors.affiliation: Cluster of Molecular Carcinogenesis, International Agency for Research on Cancer, Lyon, France.
authors.forename: Sean
authors.initials: S
authors.lastname: Tavtigian
authors.affiliation: Laboratório de Medicina Genômica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.|Programa de Pós Graduação em Gastroenterologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Silvia Liliana
authors.initials: SL
authors.lastname: Cossio
authors.affiliation: Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.|Serviço de Genética Médica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.|Departmento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.affiliation: Nucleo Mama Porto Alegre e Associação Hospitalar Moinhos de Vento, Porto Alegre, RS, Brazil.
authors.forename: Maira
authors.initials: M
authors.lastname: Caleffi
authors.affiliation: Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.|Laboratório de Medicina Genômica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.|Serviço de Genética Médica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.|Departmento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla