
doi: 10.1007/bf01212618
pmid: 8996544
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.
Adult, Genes, BRCA1, Breast Neoplasms, Middle Aged, Prognosis, Phenotype, Mutation, Humans, Female, Sequence Deletion
Adult, Genes, BRCA1, Breast Neoplasms, Middle Aged, Prognosis, Phenotype, Mutation, Humans, Female, Sequence Deletion
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