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Originally published online as doi:10.2353/jmoldx.2008.070161 on August 7, 2008

Published online before print August 7, 2008
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Journal of Molecular Diagnostics 2008, Vol. 10, No. 5
Copyright © 2008 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2008.070161

Genetic Counseling and Testing for Common Hereditary Breast Cancer Syndromes

A Paper from the 2007 William Beaumont Hospital Symposium on Molecular Pathology

Dawn C. Allain

From the Clinical Cancer Genetics Program and the Human Cancer Genetics Program, Department of Internal Medicine, Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University, Columbus, Ohio

Abstract

Throughout the past 15 years, the identification of several genes associated with hereditary breast cancer has fueled the growth of clinical genetic counseling and testing services. In addition, increased knowledge of the genetic and molecular pathways of the known hereditary breast cancer genes, as well as an increased understanding of the impact of testing on individuals has added to the ability to identify, manage, and provide psychosocial support for mutation carriers. This review provides an overview of the clinical features, cancer risks, causative genes, and management for hereditary breast and ovarian cancer syndrome, Cowden syndrome, and Li-Fraumeni syndrome. This article summarizes the genetic counseling process and genetic test result interpretation, including a review of the key elements involved in the provision of risk assessment and informed consent, as well as a review of the risks, benefits, and limitations of cancer susceptibility genetic testing.






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Copyright © 2008 by the American Society for Investigative Pathology and the Association for Molecular Pathology.