Identification of a recurrent BRCA1 mutation in German breast-cancer and/or ovarian-cancer families

被引：1

作者：

Hofmann, W

Jandrig, B

Classen, E

Nestle-Kraemling, C

Chang-Claude, J

Scherneck, S

机构：

[1] Max Delbruck Ctr Mol Med, Dept Tumor Genet, D-13092 Berlin, Germany

[2] Univ Munich, Womens Hosp, D-81377 Munich, Germany

[3] German Canc Ctr, Div Epidemiol, D-69120 Heidelberg, Germany

来源：

JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY | 2001年 / 127卷 / 03期

关键词：

hereditary breast cancer; ovarian cancer; BRCA1; mutation;

D O I：

10.1007/s004320000204

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Specific BRCA1 mutations have been reported to be common within particular populations. We have investigated German breast- and/or ovarian-cancer families and detected a recurrent carboxy-terminal BRCA1 mutation, 5622C > T, using PCR-based restriction assay and haplotype analysis. Unrelated families carrying this BRCA1 mutation shared two different disease-associated haplotypes, indicating two independent mutation events.

引用

页码：200 / 202

页数：3

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