title: [Analysis of mutations in genes BRCA1 and BRCA2 among patients with breast and ovarian cancer in northern Portugal and Galicia].
abstract: OBJECTIVE
  To detect mutations in the BRCA1 and BRCA2 genes by means of the protein truncation test (PTT) in a population in northern Portugal and Galicia with breast and ovarian cancer.
  
  
  METHODS
  Prospective study.
  
  
  METHODS
  Patients in northern Portugal and Galicia with family history of breast and/or ovarian cancer.Patients. A total of 76 women with family history of breast cancer according to the BCLC criteria (Breast Cancer Linkage Consortium) were studied at IPATIMUP.
  
  
  RESULTS
  Five cases (6.5%) with changes in the normal sequence in genes BRCA1 and BRCA2 were identified; three of these mutations occurred in the gene BRCA1 and the other two in the gene BRCA2. Two out of the three mutations found in the gene BRCA1 were de novo mutations. Changes detected in the normal sequence in the gene BRCA2 were mutations reported for the first time among the study population, according to the information obtained through the BCIC database (Breast Cancer Information Core).
  
  
  CONCLUSIONS
  This was the first study in detecting individuals carrying mutations in the susceptibility breast cancer genes BRCA1 and BRCA2 among the population of northern Portugal and Galicia.
authors.affiliation: Instituto de Patología e Inmunología Molecular, Universidad do Porto (IPATIMUP), Porto, Portugal, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Duarte
authors.forename: J F
authors.initials: JF
authors.lastname: Cameselle-Teijeiro
authors.forename: R
authors.initials: R
authors.lastname: Soares
authors.forename: C
authors.initials: C
authors.lastname: Seixas
authors.forename: M E
authors.initials: ME
authors.lastname: Cortizo-Torres
authors.forename: J
authors.initials: J
authors.lastname: Pérez-Villanueva
authors.forename: F C
authors.initials: FC
authors.lastname: Schmitt
mesh_terms: D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000208:ethnology / Q000235:genetics*; D011174:Portugal / Q000453:epidemiology; D011446:Prospective Studies; D013030:Spain / Q000453:epidemiology
vernacular_title: Análisis de mutaciones en los genes BRCA1 y BRCA2 en pacientes con cáncer de mama y ovario del norte de Portugal y Galicia.