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

被引：1

作者：

Díez, O

Domènech, M

Cortés, J

Del Río, E

Brunet, J

Alonso, MC

Baiget, M

机构：

[1] Hosp Santa Cruz & San Pablo, Serv Genet, E-08025 Barcelona, Spain

[2] Hosp Santa Cruz & San Pablo, Med Oncol Serv, E-08025 Barcelona, Spain

来源：

CANCER LETTERS | 1999年 / 142卷 / 01期

关键词：

BRCA1; mutations; breast cancer;

D O I：

10.1016/S0304-3835(99)00155-X

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：71 / 73

页数：3

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