Risk Assessment and Genetic Testing for Hereditary Breast Cancer

Annals of Surgical Oncology

, Volume 19, Issue 6, pp 1732-1737

Hereditary Breast and Ovarian Cancer and Other Hereditary Syndromes: Using Technology to Identify Carriers

  • Brian DrohanAffiliated withDivision of Surgical Oncology, Department of Surgery, Avon Comprehensive Breast Evaluation Center, Massachusetts General Hospital, Harvard Medical School
  • , Constance A. RocheAffiliated withDivision of Surgical Oncology, Department of Surgery, Avon Comprehensive Breast Evaluation Center, Massachusetts General Hospital, Harvard Medical School
  • , James C. CusackJr.Affiliated withDivision of Surgical Oncology, Department of Surgery, Avon Comprehensive Breast Evaluation Center, Massachusetts General Hospital, Harvard Medical School Email author 
  • , Kevin S. HughesAffiliated withDivision of Surgical Oncology, Department of Surgery, Avon Comprehensive Breast Evaluation Center, Massachusetts General Hospital, Harvard Medical SchoolBermuda Cancer Genetics and Risk Assessment Clinic, Massachusetts General Hospital, Harvard Medical School Email author 

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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.