BRCA1 and BRCA2 gene mutations and risk of breast cancer: Public health perspectives

Steven S. Coughlin, Muin J. Khoury, Karen K. Steinberg

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Content: Breast cancer is the most common cancer and the second most common cause of cancer death among U.S. women. In 1998, about 178,700 new cases will be diagnosed and 43,500 women will die from the disease. Mutations in the BRCA1 gene, which was cloned in 1994 and is located on chromosome 17q, have been identified as causes of predisposition to breast, ovarian, and other cancers. A second breast cancer gene, BRGA2, has been localized to chromosome 13q. Using inferential procedures, the overall carrier frequency of BRCA1 gene mutations has been estimated at 1 in 500 in the general U.S. population. Recent studies have indicated that the carrier frequency of a specific BRCA1 allele, the 185delAG mutation, may be as high as 0.8% to 1% among women of Ashkenazi Jewish descent. Conclusions: Due to the proliferation of laboratories offering genetic tests for breast cancer susceptibility, their appropriate use in public health needs careful scrutiny. Several issues are raised when such genetic tests are considered for population-based prevention programs for breast cancer. Public health agencies, such as the Centers for Disease Control and Prevention, are important to monitoring and evaluating genetic testing done outside of research protocols. If genetic tests for breast cancer are to be incorporated into future prevention programs, evaluation is needed of whether the testing can have the intended effect.

Original languageEnglish (US)
Pages (from-to)91-98
Number of pages8
JournalAmerican Journal of Preventive Medicine
Issue number2
StatePublished - Feb 1999
Externally publishedYes


  • BRCA1
  • Breast cancer
  • Cancer genetics
  • Genetic testing
  • Germline mutation
  • Ovarian cancer
  • Screening

ASJC Scopus subject areas

  • Epidemiology
  • Public Health, Environmental and Occupational Health


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