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Twenty‐three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany
Author(s) -
Meyer Peter,
Voigtlaender Theda,
Bartram Claus R.,
Klaes Ruediger
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9174
Subject(s) - biology , ovarian cancer , brca2 protein , denaturing high performance liquid chromatography , breast cancer , genetics , genotype , mutation , germline mutation , germline , gene , cancer , sequence (biology) , phenotype , genotype phenotype distinction
BRCA1 and BRCA2 germline mutations cause a substantially increased life time risk of both breast and ovarian cancer. Mutational screening of these genes by means of Denaturing High Performance Liquid Chromatography (DHPLC) in breast and/or ovarian cancer‐prone families from Southern Germany revealed 15 novel BRCA1 and 8 novel BRCA2 sequence variants. Predictions on the BRCA1/BRCA2 protein functions lead to the identification of 11 novel deleterious cancer predisposing mutations. Mutation types and their functional relevances are discussed. Our data contribute to phenotype‐genotype correlation studies and to the characterisation of the mutation spectrum of BRCA1/BRCA2. © 2003 Wiley‐Liss, Inc.