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… (More)

Topics

Figures and Tables

Sorry, we couldn't extract any figures or tables for this paper.