Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family.
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.
Díez
O
O
Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Sant Antoni Ma Claret, Barcelona, Spain. genm@santpau.es
Domènech
M
M
Cortés
J
J
Del Río
E
E
Brunet
J
J
Alonso
M C
MC
Baiget
M
M
D000818:Animals; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D004285:Dogs; D005260:Female; D006801:Humans; D051379:Mice; D009154:Mutation
D019313:BRCA1 Protein