Copyright © 2009-, Douglas L Riegert-Johnson.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
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 SyndromesRolf H. Sijmons.Created: February 27, 2010; Last Update: February 27, 2010.
- Peutz-Jeghers SyndromeDouglas 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.
- Implications of Peutz-Jeghers Syndrome in Children and AdolescentsWarren Hyer.
- Familial Atypical Multiple Mole Melanoma SyndromeDara Eckerle Mize, Michele Bishop, Erin Resse, and Jason Sluzevich.
- Multiple Endocrine Neoplasia Type 1 (MEN1) SyndromeFrancesca 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 SyndromeErin 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.
- Juvenile PolyposisDaniel Calva and James Howe.
- Appendix: Peutz's original report on Peutz-Jeghers syndromeJ.L.A. Peutz.
- Appendix: The first reported case of familial atypical multiple melanoma mole syndromeWilliam Norris, M.D.
- 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, MD.
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
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Review Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples.
[Dermatol Clin. 1995]
Review Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples.Cohen PR, Kurzrock R. Dermatol Clin. 1995 Jan; 13(1):211-29.
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Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.
[Arch Dermatol. 1999]
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B, Linehan M, Turner ML. Arch Dermatol. 1999 Oct; 135(10):1195-202.
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Review The hamartomatous polyposis syndromes: a clinical and molecular review.
[Am J Gastroenterol. 2005]
Review The hamartomatous polyposis syndromes: a clinical and molecular review.Schreibman IR, Baker M, Amos C, McGarrity TJ. Am J Gastroenterol. 2005 Feb; 100(2):476-90.
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Review Genetics of the hamartomatous polyposis syndromes: a molecular review.
[Int J Colorectal Dis. 2009]
Review Genetics of the hamartomatous polyposis syndromes: a molecular review.Chen HM, Fang JY. Int J Colorectal Dis. 2009 Aug; 24(8):865-74. Epub 2009 Apr 21.
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Review Genetic testing for cancer predisposition.
[Annu Rev Med. 2001]
Review Genetic testing for cancer predisposition.Eng C, Hampel H, de la Chapelle A. Annu Rev Med. 2001; 52:371-400.
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