title: [BRCA1 and BRCA2 mutations in patients with familial breast cancer].
abstract: OBJECTIVE
  Familial breast (BC) and ovarian cancer (OC) has been associated with germ-line mutations in the cancer susceptibility genes BRCA1 and BRCA2. The mutational spectra vary depending on the study populations and the criteria applied for patient selection. The present study reports the mutations found in 48 families of the Valencian Community studied in the University Hospital La Fe of Valencia (Spain).
  
  
  METHODS
  We analysed the BRCA1 and BRCA2 genes of 48 families (55 patients) with a family history of BC an/or OC. The method consists of DNA extraction, followed by a polymerase chain reaction, mutational analysis by heteroduplex formation in conformation-sensitive-gel electrophoresis and sequencing of the heteroduplex detected.
  
  
  RESULTS
  We report eight different deleterious mutations, four in BRCA1 and four in BRCA2 and four unclassified variants (UV). We also identified the presence of the BRCA1 3889_3890delG mutation for the first time in the Spanish population. In BRCA2, we report two mutations not described in the breast cancer information care, the 5025delT which is completely new and the 9206_9219del14, which has already been described in Spanish population. We also describe for the first time the presence of UV 8038C>T in this gene.
  
  
  CONCLUSIONS
  The mutational spectra and the presence of new mutations in the limited number of patients give support to the relevance of the study population in the mutational spectra.
authors.affiliation: Laboratorio de Biología Molecular, Departamento de Biopatología Médica, Escuela de Enfermeria, Hospital Universitario La Fe, Valencia, Spain. bolufer_pas@gva.es
authors.forename: Pascual
authors.initials: P
authors.lastname: Bolufer
authors.forename: Blanca
authors.initials: B
authors.lastname: Munárriz
authors.forename: Ana
authors.initials: A
authors.lastname: Santaballa
authors.forename: Eladio
authors.initials: E
authors.lastname: Velasco
authors.forename: Enrique
authors.initials: E
authors.lastname: Lerma
authors.forename: Eva
authors.initials: E
authors.lastname: Barragán
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D008875:Middle Aged; D009154:Mutation