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Cancer Epidemiology and Prevention$
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David Schottenfeld and Joseph F. Fraumeni

Print publication date: 2006

Print ISBN-13: 9780195149616

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780195149616.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 16 April 2021

Hereditary Neoplastic Syndromes

Hereditary Neoplastic Syndromes

(p.562) 28 Hereditary Neoplastic Syndromes
Cancer Epidemiology and Prevention




Oxford University Press

The recent clinical availability of germ-line mutation testing for susceptibility genes related to the hereditary forms of common tumors such as breast, ovary, colorectum, and melanoma has served as a powerful catalyst for diverse research activities. Laboratory research, which has been propelled forward by access to carefully annotated biological samples obtained from cancer-prone families, is now challenged by an increasingly complex regulatory environment related to the ethical use of such specimens. Practitioners are being confronted by a host of new clinical issues, including those related to predictive risk assessment, genetic counseling, and germ-line mutation testing for clinical decision-making; the duty to warn at-risk relatives versus their high-risk patient's right to privacy and confidentiality; and, most importantly, the need for evidence-based, safe, and effective management recommendations for high-risk individuals. This chapter touches briefly upon some of these issues then provides a thumbnail description of selected hereditary cancer syndromes. It considers only some disorders for which a Mendelian mode of inheritance has been established and for which at least one germ-line susceptibility gene has been identified.

Keywords:   cancer risk, family history, disease inheritance, germ-line mutation, susceptibility genes

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