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德国南部乳腺癌和/或卵巢癌家族中23种新的BRCA1和BRCA2基因序列改变

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

作者信息

Meyer Peter, Voigtlaender Theda, Bartram Claus R, Klaes Ruediger

机构信息

Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.

出版信息

Hum Mutat. 2003 Sep;22(3):259. doi: 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.

摘要

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。

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