Familial breast cancer. Approaching the isolation of a susceptibility gene

Barbara L. Weber, Kenneth J. Abel, Larry C. Brody, Wendy L. Flejter, Settara C. Chandrasekharappa, Fergus J. Couch, Sofia D. Merajver, Francis S. Collins

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Family history is recognized widely as a significant risk factor for the development of breast cancer. A gene (BRCA1), mutations in which confer susceptibility to early‐onset breast and ovarian cancer, has been mapped to chromosome 17q12‐21. An intensive search for this gene is currently underway in a number of laboratories. Recent data support the hypothesis that BRCA1 is a tumor suppressor gene that may be important in the development of both inherited and sporadic breast and ovarian cancers. Genetic and physical maps of the BRCA1 candidate region largely have been completed and efforts are being directed at identification of candidate genes from within this region. A small number of families recently have received results of genetic‐linkage testing, indicating which family members likely are to be carriers of a germline BRCA1 mutation, and, therefore, have a lifetime risk of developing breast cancer of approximately 85%. The imminent isolation of BRCA1 will make predictive testing for breast cancer a reality for many women and likely will pave the way for novel diagnostic and therapeutic strategies in the future.

Original languageEnglish (US)
Pages (from-to)1013-1020
Number of pages8
Issue number3 S
StatePublished - Aug 1 1994


  • BRCA1
  • breast cancer
  • ovarian cancer
  • positional cloning
  • predictive testing
  • tumor suppressor gene

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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