Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers

Ann Surg Oncol. 2012 Jun;19(6):1732-7. doi: 10.1245/s10434-012-2257-y. Epub 2012 Mar 17.

Abstract

Purpose and methods: Most patients who harbor a genetic mutation for hereditary breast cancer have not been identified, despite the availability of genetic testing. Developing an effective approach to the identification of high-risk individuals is the key to preventing and/or providing early diagnosis of cancer in this patient population. This educational review addresses these issues.

Results and discussion: Using data available on the internet, and making assumptions regarding the types and results of genetic testing, we have estimated the number of mutation carriers in the country and the number who have been tested and identified as such. Overall, our ability to fund and more effectively manage carriers is weak. A technological solution is discussed.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics
  • Breast Neoplasms / prevention & control
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Heterozygote*
  • Humans
  • Mutation / genetics
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / prevention & control
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / prevention & control
  • Risk Assessment