Twenty-three novelBRCA1 andBRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany
Open Access
- 14 August 2003
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 22 (3) , 259
- https://doi.org/10.1002/humu.9174
Abstract
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.Keywords
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