Inherited Cancer Syndromes: Current Clinical Management

208 Pages·2011·3.867 MB·English

by  C. Neal Ellis (auth.), C. Neal Ellis (eds.)

Inherited Cancer Syndromes
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C. Neal Ellis
Editor
Inherited Cancer Syndromes
Current Clinical Management
Second Edition
Editor
C. Neal Ellis
Professor of Surgery
Department of Surgery
University of South Alabama Medical Center
Mobile, AL 36617
USA
[email protected]
ISBN 978-1-4419-6820-3 e-ISBN 978-1-4419-6821-0
DOI 10.1007/978-1-4419-6821-0
Springer New York Dordrecht Heidelberg London
Library of Congress Control Number: 2010938363
© Springer Science+Business Media, LLC 2011
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Contents
1 Obtaining and Using Genetic Information ........................................... 1
C. Neal Ellis
2 Cancer and Genetic Counseling ............................................................ 23
Brandie Heald and James M. Church
3 An Ethos of Genetic Testing ................................................................... 35
Roy E. Gandy and Charles B. Rodning
4 Hereditary Breast Cancer Syndromes .................................................. 51
Alfredo A. Santillan, Jeffrey M. Farma, Ramona Hagmaier,
Charles E. Cox, and Adam I. Riker
5 Gastrointestinal Polyposis Syndromes .................................................. 105
William J. Harb
6 Familial Colorectal Cancer Type X ....................................................... 127
Deborah A. Nagle and Vitaliy Poylin
7 The Familial Atypical Multiple Mole Melanoma
(FAMMM)-Pancreatic Carcinoma (PC) Syndrome ............................. 135
Adam I. Riker and Ramona Hagmaier
8 Desmoid Disease ...................................................................................... 145
James M. Church
9 Hereditary Nonpolyposis Colorectal Cancer ........................................ 161
W. Donald Buie and Anthony R. MacLean
10 Hereditary Ovarian Cancer and Other Gynecologic Malignancies ........ 181
Kathryn R. Brown and Lynn P. Parker
Index ................................................................................................................. 197
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Contributors
Kathryn R. Brown, MD
Department of Obstetrics, Gynecology and Women’s Health, University
of Louisville Hospital, Louisville, KY 40202, USA
W. Donald Buie, MD, MSc, FRCS(C), FACS
Department of Surgery, Division of General Surgery, University of Calgary,
Calgary, Canada; 1403 29th St., NW Calgary, Alberta Canada T3H 1L8
James M. Church, MD, ChB, FRACS
Department of Colorectal Neoplasia, Sanford R. Weiss Center for Hereditary
Colorectal Cancer, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Charles E. Cox, MD, FACS
McCann Foundation Endowed Professor of Breast Surgery, Director, Breast
Health Clinical and Research Integrated Strategic Program (CRISP), USF Health
Department of Surgery, Carol and Frank Morsani Center for Advanced Health
Care, Tampa, FL 33612, USA
C. Neal Ellis, MD
Division of Colon and Rectal Surgery, West Penn Allegheny Health System,
PA 15212, Pittsburgh
Jeffrey M. Farma, MD
Assistant Professor of Surgery, Department of Surgical Oncology, Fox Chase
Cancer Center, Philadelphia, PA 19111, USA
Roy E. Gandy, MD
Department of Surgery, University of South Alabama Medical Center,
Mobile, AL 36617, USA
Ramona Hagmaier, MHS, PA-C
Physician Assistant, Skin Perfection Medical Spa, Mobile, AL 36695, USA
vii
viii Contributors
William J. Harb, MD
Baptist Hospital, Nashville, TN, USA
and
Cumberland Surgical Associates, PLC 2011 Church St. Suite 703, Nashville, TN
37203, USA
Brandie Heald, MS, CGC
Genomic Medicine Institute and the Sanford R. Weiss Center for Hereditary
Colorectal Neoplasio, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Anthony R. MacLean, MD, FRCS(C), FACS
Clinical Associate Professor of Surgery, Department of Surgery; Program
Director, Division of General Surgery, University of Calgary, Calgary, AB,
Canada
Deborah A. Nagle, MD
Division of Colon and Rectal Surgery, Beth Israel Deaconess Medical Center,
Harvard University, Boston, MA 02215, USA
Lynn P. Parker, MD
Director, Gynecology, Department of Obstetrics, Gynecology and Women’s
Health, University of Louisville Hospital, Louisville, KY 40202, USA
Vitaliy Poylin, MD
Department of Surgery, Beth Israel Deaconess Medical Center/Harvard University
School of Medicine, Boston, MA 02215, USA
Adam I. Riker, MD
Oshsner Cancer Institute, Department of Surgery, 1514 Jefferson, New Orleans,
LA, USA
Charles B. Rodning, MD, PhD
Professor, Department of Surgery, University of South Alabama Medical Center,
Mobile, AL 36617, USA
Alfredo A. Santillan, MD, MPH
Division of Surgical Oncology, Department of Surgery, Cancer Therapy and
Research Center, University of Texas Health Science Center at San Antonio,
78229 San Antonio, TX, USA
Chapter 1
Obtaining and Using Genetic Information
C. Neal Ellis
Introduction
Our current understanding of the molecular pathophysiology of cancer explains
many of the important epidemiology and clinical observations that have been made
in the last 100 years. For example, the identification and characterization of genes
responsible for hereditary cancer syndromes have explained the predisposition of
members of affected families to develop site-specific cancer at a relatively young
age [1]. A positive family medical history is now a leading risk factor for the sub-
sequent development of many diseases including diabetes, neurologic disorders
such as Huntington’s chorea, atherosclerotic coronary vascular disease and many
cancers including breast, ovarian, colon, and prostate cancer and melanoma [1–6].
The understanding of the molecular basis of cancer has been evolving rapidly since
the completion of the Human Genome project. Several specific gene mutations
have been implicated in predisposing patients to a variety of hereditary cancer syn-
dromes [7–17]. This understanding has provided the ability to use genetic testing
to estimate the risk, predict onset, and aid in assessing the prognosis of many forms
of cancer. However, these genetic tests have also created complex issues and con-
troversies regarding the use of the information obtained. The appropriate interpreta-
tion of test results with the implications for screening, preventive interventions, or
clinical management decisions are not yet fully defined.
Cancer control efforts to reduce the incidence of cancer have focused primarily
on prevention and early detection. These efforts will be most beneficial for indi-
viduals who are at highest risk. Thus, it is imperative that healthcare providers
become familiar with the tools to assess a person’s genetic risk of cancer, the gen-
eral benefits and limitations of genetic testing in medical practice, and the process
of making informed decisions about diagnosis and treatment of malignant disor-
ders. The objective of this chapter is to generate a practical guide to aid physicians
C.N. Ellis (*)
Division of Colon and Rectal Surgery, West Penn Allegheny Health System,
PA, 15212, Pittsburgh
e-mail: [email protected]
C.N. Ellis (ed.), Inherited Cancer Syndromes: Current Clinical Management, 1
DOI 10.1007/978-1-4419-6821-0_1, © Springer Science+Business Media, LLC 2011