title: BRCA1 mutations and phenotype.
abstract: 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.
authors.affiliation: Max-Delbrück-Zentrum für Molekulare Medizin, Forschungsbereich Tumorgenetik, Berlin-Buch, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Grade
authors.forename: K
authors.initials: K
authors.lastname: Höffken
authors.forename: R
authors.initials: R
authors.lastname: Kath
authors.forename: A
authors.initials: A
authors.lastname: Nothnagel
authors.forename: E
authors.initials: E
authors.lastname: Bender
authors.forename: S
authors.initials: S
authors.lastname: Scherneck
mesh_terms: 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