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 hum...

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Bibliographic Details
Published in:Cancer letters 1999-07, Vol.142 (1), p.71-73
Main Authors: Dı́ez, Orland, Domènech, Montserrat, Cortés, Joan, Del Rı́o, Elisabeth, Brunet, Joan, Alonso, M.Carmen, Baiget, Montserrat
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
BRCA1
BRCA1 Protein - genetics
Breast cancer
Breast Neoplasms - genetics
Dogs
Female
Gynecology. Andrology. Obstetrics
Humans
Mammary gland diseases
Medical sciences
Mice
Mutation
Mutations
Tumors
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Summary: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.
ISSN:0304-3835
1872-7980
DOI:10.1016/S0304-3835(99)00155-X