BRCA1 mutations and phenotype.
More than 100 mutations have been described for the breast-cancer-susceptibility gene BRCA1. 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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Max-Delbrück-Zentrum für Molekulare Medizin, Forschungsbereich Tumorgenetik, Berlin-Buch, Germany.
Höffken
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K
Kath
R
R
Nothnagel
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A
Bender
E
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Scherneck
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D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D017384:Sequence Deletion