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Cancer Epidemiology and Prevention$
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Michael Thun, Martha S. Linet, James R. Cerhan, Christopher A. Haiman, and David Schottenfeld

Print publication date: 2017

Print ISBN-13: 9780190238667

Published to Oxford Scholarship Online: December 2017

DOI: 10.1093/oso/9780190238667.001.0001

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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: 19 October 2021

Genetic Epidemiology of Cancer

Genetic Epidemiology of Cancer

(p.53) 5 Genetic Epidemiology of Cancer
Cancer Epidemiology and Prevention

Kathryn L. Penney

Kyriaki Michailidou

Deanna Alexis Carere

Chenan Zhang

Brandon Pierce

Sara Lindström

Peter Kraft

Oxford University Press

Chapter 5 reviews epidemiologic studies conducted to identify germline (inherited) susceptibility loci. These studies can involve associations observed within high-risk family pedigrees or in large studies of unrelated individuals. The chapter reviews the methods used to estimate the aggregate contribution of inherited genetic susceptibility and to identify specific genetic loci associated with risk. Although there is considerable variability across cancers, most cancers exhibit familial clustering, driven in part by a small number of known rare variants with large relative risks and a larger number of common variants with modest relative risks. The chapter discusses the implications of these findings for clinical care, public health, and tumor biology. It closes with a discussion of open questions, most notably the puzzle of “missing heritability”: the fact that—despite tremendous advances—multiple lines of evidence suggest that most specific risk variants, both rare and common, have yet to be discovered.

Keywords:   genetic, cancer, heritability, clinical care, public health

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