Meyer Peter, Voigtlaender Theda, Bartram Claus R, Klaes Ruediger
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Hum Mutat. 2003 Sep;22(3):259. doi: 10.1002/humu.9174.
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.
BRCA1和BRCA2种系突变会显著增加患乳腺癌和卵巢癌的终生风险。通过变性高效液相色谱法(DHPLC)对德国南部易患乳腺癌和/或卵巢癌的家族进行这些基因的突变筛查,发现了15个新的BRCA1序列变异和8个新的BRCA2序列变异。对BRCA1/BRCA2蛋白质功能的预测导致鉴定出11个新的有害癌症易感突变。讨论了突变类型及其功能相关性。我们的数据有助于表型-基因型相关性研究以及BRCA1/BRCA2突变谱的特征描述。