BRCA1 mutations and phenotype

J Cancer Res Clin Oncol. 1997;123(1):69-70. doi: 10.1007/BF01212618.

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.

MeSH terms

  • Adult
  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA1 / genetics*
  • Humans
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Prognosis
  • Sequence Deletion