Journal of Clinical Oncology, Vol 21, Issue 4
(February), 2003: 740-753
© 2003 American Society for Clinical Oncology
Hereditary Breast-Ovarian Cancer at the Bedside: Role of the Medical Oncologist
Henry T. Lynch,
Carrie L. Snyder,
Jane F. Lynch,
Bronson D. Riley,
Wendy S. Rubinstein
From the Creighton University School of Medicine, Omaha, NE; and Evanston Northwestern Healthcare, Center for Medical Genetics, Evanston Hospital, Evanston IL.
Address reprint requests to Henry T. Lynch, MD, Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, NE 68178; email: htlynch{at}creighton.edu.
Purpose: To provide practical considerations for diagnosing, counseling, and managing patients at high risk for hereditary breast cancer. Design: We have studied 98 extended hereditary breast cancer (HBC)/hereditary breast-ovarian cancer (HBOC) families with BRCA1/2 germline mutations. From these families, 1,315 individuals were counseled and sampled for DNA testing. Herein, 716 of these individuals received their DNA test results in concert with genetic counseling. Several challenging pedigrees were selected from Creighton University’s hereditary cancer family registry, as well as one family from Evanston/Northwestern Healthcare, to be discussed in this present report.
Results: Many obstacles were identified in diagnosis, counseling, and managing patients at high risk for HBC/HBOC. These obstacles were early noncancer death of key relatives, perception of insurance or employment discrimination, fear, anxiety, apprehension, reduced gene penetrance, and poor compliance. Other important issues such as physician culpability and malpractice implications for failure to collect or act on the cancer family history were identified.
Conclusion: When clinical gene testing emerged for BRCA1 and BRCA2, little was known about the efficacy of medical interventions. Potential barriers to uptake of testing were largely unexplored. Identification and referral of high-risk patients and families to genetic counseling can greatly enhance the care of the population at the highest risk for cancer. However, because premonitory physical stigmata are absent in most of these syndromes, an HBOC diagnosis may be missed unless a careful family history of cancer of the breast, ovary, or several integrally associated cancers is obtained.
This article was supported by revenue from Nebraska cigarette taxes awarded to Creighton University by the Nebraska Department of Health and Human Services. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the State of Nebraska or the Nebraska Department of Health and Human Services. Support was also provided by NIH grant no.1U01 CA86389-01.
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H. T. Lynch
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P Watson, S A Narod, R Fodde, A Wagner, J F Lynch, S T Tinley, C L Snyder, S A Coronel, B Riley, Y Kinarsky, et al.
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