BRCA1 mutations and phenotype

被引:0
|
作者
K. Grade
K. Höffken
R. Kath
A. Nothnagel
E. Bender
S. Scherneck
机构
[1] Max-Delbrück-Zentrum für Molekulare Medizin,Forschungsbereich Tumorgenetik
[2] Friedrich-Schiller-Universität Jena,Klinik für Innere Medizin
关键词
Mutations; Phenotype;
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学科分类号
摘要
More than 100 mutations have been described for the breast-cancer-susceptibility geneBRCA1. The paper describes phenotypical aspects of three selected mutations located at the beginning, in the middle, and at the end of the gene. A remarkable decrease of the age of diagnosis of the mammary carcinoma is observed with increasing length of the putative gene product, combined with greater severity of the disease.
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页码:69 / 70
页数:1
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