Germ-line mutations at BRCA1 in northeastern France

被引：0

作者：

Fricker, JP

Muller, D

Cutuli, B

Rodier, JF

Janser, JC

Jung, GM

Mors, R

Petit, T

Haegele, P

Abecassis, J

机构：

[1] CRLCC Paul Strauss, Unite Genet Oncol, F-67085 Strasbourg, France

[2] CRLCC Paul Strauss, Dept Radiotherapie, F-67085 Strasbourg, France

[3] CRLCC Paul Strauss, Dept Chirurg, F-67085 Strasbourg, France

[4] CRLCC Paul Strauss, Dept Med Oncol, F-67085 Strasbourg, France

来源：

BULLETIN DU CANCER | 2000年 / 87卷 / 10期

关键词：

breast cancer; ovarian cancer; genetic susceptibility; BRCA1; gene; frequent mutations;

D O I：

暂无

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Thirty-seven breast/ovarian or breast-only cancer families selected on a regional basis have been analyzed for mutations at BRCA1. By combining direct sequence analysis and protein truncation test, mutations Were detected in 14 families (38%). We found seven different mutations, two of which have not been described before. Mutations at BRCA1 were present in 60% of breast/ovarian and 32% of breast-only cancer families. Mutations were frequent in families with at least one breast cancer case before age 40 (44%) and/or one bilateral breast cancer case (54%). Two mutations, namely 3600del11 and G1710X, are frequent in the population native from northeastern France. Oriented BRCA1 analysis should facilitate carrier detection in breast and/or ovarian cancer families stemming from this French area.

引用

页码：739 / 744

页数：6

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