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Article

Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family.

Cancer letters - 19 Jul 1999

Díez O, Domènech M, Cortés J, Del Río E, Brunet J, Alonso M C, Baiget M

Abstract excerpt

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...

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Identifiers

PMID: 10424783
DOI: 10.1016/s0304-3835(99)00155-x

Genes

BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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