title: BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.
abstract: A group of 83 Spanish BC/OC families were analysed for BRCA1 germ-line mutations. Analysis of the entire coding sequence was carried out by SSCP and PTT. We identified 5 frameshift mutations: 185delAG (2 times), 189insTGTC, 1241delAC, and 5537delA and 3 missense mutations in BRCA1: 330A > G, 1240C > T, and 5263G > A. The 185delAG mutation was identified in 2 families. One of them was the only Gypsy family participating in our study. All carriers shared the known founder haplotype, although they did not have any Jewish ancestry. Three frameshift mutations were found among the 14 families with 3 or more BC cases and 1 or more OC, which results in a higher percentage (21.4%) of BRCA1 mutations in this group of high risk families. Two missense mutations were found in families with 2 or 3 BC and no OC, indicating a low proportion (4.8%) of mutations in these families. There was no association between bilateral BC and a mutation carrier status. The frequency of BRCA1 involvement is lower than that of any other country hitherto reviewed. Our results highlight the influence of geographical and ethnic origin of the population studied.
authors.affiliation: Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. genm@santpau.es
authors.forename: O
authors.initials: O
authors.lastname: Díez
authors.forename: J
authors.initials: J
authors.lastname: Cortés
authors.forename: M
authors.initials: M
authors.lastname: Domènech
authors.forename: J
authors.initials: J
authors.lastname: Brunet
authors.forename: E
authors.initials: E
authors.lastname: Del Río
authors.forename: C
authors.initials: C
authors.lastname: Pericay
authors.forename: J
authors.initials: J
authors.lastname: Sanz
authors.forename: C
authors.initials: C
authors.lastname: Alonso
authors.forename: M
authors.initials: M
authors.lastname: Baiget
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D013030:Spain