BRCA1 mutations and phenotype |
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| Authors: | K. Grade K. Höffken R. Kath A. Nothnagel E. Bender S. Scherneck |
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| Affiliation: | (1) Forschungsbereich Tumorgenetik, Max-Delbrück-Zentrum für Molekulare Medizin, D-13122 Berlin-Buch, Germany;(2) Klinik für Innere Medizin, Friedrich-Schiller-Universität Jena, D-07740 Jena, Germany |
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| Abstract: | 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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| Keywords: | BRCA1
Mutations Phenotype |
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