title: Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family.
abstract: We identified two BRCA1 mutations in a high risk breast cancer family: the missense 1240 C > T (Thr > Ile) and the 1241delAC at codon 374, which results in a stop at codon 376. Both were contiguously located in the same BRCA1 gene, in a motif of 11 amino acids, which is highly conserved across human, canine and murine species. The presence of missense mutations in this motif in breast-cancer families suggests an important functional role for this protein region and a potential deleterious effect of the 1240C > T mutation.
authors.affiliation: Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Sant Antoni Ma Claret, Barcelona, Spain. genm@santpau.es
authors.forename: O
authors.initials: O
authors.lastname: Díez
authors.forename: M
authors.initials: M
authors.lastname: Domènech
authors.forename: J
authors.initials: J
authors.lastname: Cortés
authors.forename: E
authors.initials: E
authors.lastname: Del Río
authors.forename: J
authors.initials: J
authors.lastname: Brunet
authors.forename: M C
authors.initials: MC
authors.lastname: Alonso
authors.forename: M
authors.initials: M
authors.lastname: Baiget
mesh_terms: D000818:Animals; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D004285:Dogs; D005260:Female; D006801:Humans; D051379:Mice; D009154:Mutation
chemical_list: D019313:BRCA1 Protein