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BRCA1 mutations in German breast-cancer families.

作者信息

Jandrig B, Grade K, Seitz S, Waindzoch B, Müller M, Bender E, Nothnagel A, Rohde K, Schlag P M, Kath R, Höffken K, Scherneck S

机构信息

Department of Tumorgenetik, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.

出版信息

Int J Cancer. 1996 Oct 9;68(2):188-92. doi: 10.1002/(SICI)1097-0215(19961009)68:2<188::AID-IJC8>3.0.CO;2-U.

DOI:10.1002/(SICI)1097-0215(19961009)68:2<188::AID-IJC8>3.0.CO;2-U
PMID:8900426
Abstract

We analyzed germline mutations of the BRCA1 gene in 20 German breast/ovarian-cancer families. BRCA1 mutations co-segregating with breast-cancer susceptibility were identified in 3 of these families. All mutations were found to generate a premature stop codon leading to the synthesis of truncated BRCA1 proteins of different length. Nine polymorphisms were detected in BRCA1, 4 of which have not been described previously. Analysis of familial tumors for LOH revealed that only the disease-related allele of BRCA1 was present.

摘要

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