Cancer Syndromes is a comprehensive multimedia resource for selected single gene cancer syndromes. Syndromes currently included are Peutz-Jeghers syndrome, juvenile polyposis, Birt-Hogg-Dubé syndrome, multiple endocrine neoplasia type 1 and familial atypical multiple mole melanoma syndrome. For each syndrome the history, epidemiology, natural history and management are reviewed. If possible the initial report in the literature of each syndrome is included as an appendix. Chapters are extensively annotated with figures and movie clips.

Mission Statement: Improving the care of cancer syndrome patients.

Contents

• Acknowledgements
• Identifying Patients with Familial Cancer Syndromes
  Rolf H. Sijmons.
  Created: February 27, 2010; Last Update: February 27, 2010.
  • Introduction
  • Diagnostic clues
  • The Familial Cancer Database (www.facd.info)
  • References
• Peutz-Jeghers Syndrome
  Douglas Riegert-Johnson, Ferga C. Gleeson, Wytske Westra, Timothy Hefferon, Louis M. Wong Kee Song, Lauren Spurck, and Lisa A. Boardman.
  Created: July 18, 2008; Last Update: August 9, 2008.
  • Introduction
  • Pathophysiology
  • Pathology
  • Diagnosis
  • Clinical Genetics
  • Natural History
  • Cancer surveillance protocols
  • Chemoprevention and Chemotherapy
  • Prophylactic Surgery
  • Lifestyle Modification
  • Movie Clip Captions
  • References
• Implications of Peutz-Jeghers Syndrome in Children and Adolescents
  Warren Hyer.
  • Introduction
  • Symptomatic children and adolescents
  • Asymptomatic children and adolescents
  • References
• Familial Atypical Multiple Mole Melanoma Syndrome
  Dara Eckerle Mize, Michele Bishop, Erin Resse, and Jason Sluzevich.
  • Introduction
  • Pathology
  • The Gene—CDKN2A
  • The Protein—P16(INK4a), P15(INK4b), P18(INK4c)
  • Diagnosis
  • CDKN2A mutations and melanoma
  • CDKN2A mutations and pancreatic cancer
  • CDKN2A mutations and other cancers
  • Penetrance, expressivity, and modifiers
  • Natural History
  • Screening and Management
  • References
• Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome
  Francesca Marini, Alberto Falchetti, Ettore Luzi, Francesco Tonelli, and Brandi Maria Luisa.
  Created: July 18, 2008; Last Update: August 9, 2008.
  • Introduction and Background
  • Epidemiology
  • Historical background
  • Pathophysiology
  • The CDKN1B gene/p27 protein and a MEN1-like condition (MENX)
  • MEN1 follows the Two-Hit Model
  • MEN1 mutations in multiple endocrine neoplasia patients
  • Menin: the MEN1 protein
  • Clinical Genetics
  • Natural History
  • Diagnosis
  • Genetic diagnosis
  • Cancer surveillance and management protocols
  • Management
  • Acknowledgements
  • References
• Birt-Hogg-Dubé Syndrome
  Erin Reese, Jason Sluzevich, Irma Kluijt, H. Jelle Teertstra, Daphne De Jong, Simon Horenblas, and Jay Ryu.
  Created: September 1, 2009; Last Update: October 5, 2009.
  • Introduction
  • Pathophysiology
  • Folliculin Genetics
  • Dermatologic Manifestations
  • Renal Manifestations
  • Pulmonary Manifestations
  • Diagnosis
  • Movie Clip Captions
  • References
• Juvenile Polyposis
  Daniel Calva and James Howe.
  • Introduction
  • Background
  • Classification
  • Pathology
  • Diagnosis
  • Clinical Genetics
  • Natural History
  • Management
  • Movie Clip Captions
  • References
• Appendix: Peutz's original report on Peutz-Jeghers syndrome
  J.L.A. Peutz.
• Appendix: The first reported case of familial atypical multiple melanoma mole syndrome
  William Norris.
• Appendix: The original description of perifollicular fibromas (Birt-Hogg-Dubé syndrome.)
  Burnier and Rejsek.
• Appendix: The first reported case of juvenile polyposis: Four cases of rectal polyposis occurring in one family.
  Arthur F. Hertz.

Former Associate Editors: Lauren Spurck, MS, Mayo Clinic Florida, Jacksonville, Florida

Suggested citation:

[Chapter authors]. [Chapter title]. [Chapter’s creation date [updated [update date]; cited [cited date]. In: Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M, eds. Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information ; 2009-. Available from www.familycancerinfo.com