PMID: 11352305May 16, 2001Paper

Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations

Annals of Surgical Oncology
D A WirtzfeldM A Rodriguez-Bigas


Hamartomatous polyposis syndromes are characterized by an overgrowth of cells or tissues native to the area in which they normally occur. Juvenile polyposis syndrome (JPS) results from germ-line mutations in the SMAD-4 gene (18q21.1) that encodes for an enzyme involved in transforming growth factor beta(TGF-beta) signal transduction. The increased neoplastic risk may result from SMAD-4 mutations in the stromal component, which stimulate epithelial dysplasia and progression to invasive malignancy. Peutz-Jeghers syndrome (PJS) is associated with germ-line mutations in the LKB1 gene (19p13.3) that encodes a multifunctional serine-threonine kinase. These mutations occur in the epithelial component, suggesting a direct tumor suppressor effect. Patients are at an increased risk of intestinal and extraintestinal malignancies, including breast, pancreatic, ovarian, testicular, and cervical cancer. Cowden's disease is associated with germ-line mutations in the PTEN gene (10q22-23) and an increased risk of breast and thyroid malignancies. Ruvalcaba-Myhre-Smith syndrome is less common; controversy suggests that it may represent a variant of Cowden's disease. Genetic alterations underlying hamartomatous polyposis syndromes are diverse. Car...Continue Reading


Oct 11, 1992·American Journal of Medical Genetics·R J GorlinB A Burke
Aug 1, 1991·Archives of Disease in Childhood·F M GiardielloS V Booker
Nov 1, 1989·Gut·A D SpigelmanR K Phillips
Dec 1, 1988·Histopathology·J R JassB C Morson
Dec 1, 1986·The American Journal of Surgical Pathology·R C Haggitt, B J Reid
Jun 11, 1987·The New England Journal of Medicine·F M GiardielloG D Luk
Mar 1, 1986·Clinical Genetics·T M StarinkA W Eriksson
Dec 1, 1980·Clinical Genetics·R H RuvalcabaD W Smith
Oct 1, 1995·The British Journal of Surgery·A D SpigelmanR K Phillips
Sep 1, 1995·Annals of Surgical Oncology·M C CoburnK I Bland
Feb 1, 1995·Journal of Medical Genetics·A M Hanssen, J P Fryns
Jan 1, 1995·The British Journal of Surgery·D C DesaiR K Phillips
Nov 1, 1993·Cancer·K HizawaM Fujishima
Apr 1, 1993·Trends in Genetics : TIG·B Vogelstein, K W Kinzler
May 1, 1996·Nature Genetics·M R NelenC Eng
Aug 1, 1997·Nature Genetics·D J MarshC Eng
Nov 14, 1997·Gastroenterology·A F ZigmanJ M Carethers
Jan 13, 1998·Nature Genetics·S OlschwangG Thomas
Jun 6, 1998·Science·J R HoweL A Aaltonen
Jun 6, 1998·Science·K W Kinzler, B Vogelstein
Jan 1, 1963·Annals of Internal Medicine·K M LLOYD, M DENNIS
Jun 1, 1997·Journal of Genetic Counseling·C Eng

❮ Previous
Next ❯


Jul 5, 2012·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·S Greven, R Fölster-Holst
Jun 21, 2011·Der Pathologe·A RoessnerT Guenther
Apr 22, 2009·International Journal of Colorectal Disease·Hui-Min Chen, Jing-Yuan Fang
Feb 5, 2005·Diseases of the Colon and Rectum·Mustafa OncelVictor W Fazio
Apr 5, 2003·Best Practice & Research. Clinical Gastroenterology·Brian A Allen, Jonathan P Terdiman
May 1, 2004·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Noralane M Lindor
Nov 19, 2004·Nature·Neil A BhowmickHarold L Moses
Dec 17, 2009·Clinics in Colon and Rectal Surgery·Daniel A AnayaMiguel A Rodriguez-Bigas
Dec 17, 2009·Clinics in Colon and Rectal Surgery·Vincent R Adolph, Kathryn Bernabe
Dec 14, 2011·The Cancer Journal·Fay Kastrinos, Sapna Syngal
Jun 8, 2012·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·M H NieuwenhuisH F A Vasen
Mar 31, 2007·International Journal of Clinical Practice·S UppalA P Coatesworth
Dec 30, 2004·Journal of Clinical Pathology·P A Marignani
Nov 17, 2009·World Journal of Gastroenterology : WJG·Marcela KopacovaJan Bures
Oct 1, 2008·Journal of Indian Association of Pediatric Surgeons·Vijai D UpadhyayaVijayendra Kumar
Mar 5, 2016·Journal of Ultrasound·Valerio VitaleGianfranco Vallone
Nov 19, 2010·Digestive Diseases and Sciences·Tsung-Hsing ChenTa-Sen Yeh
Oct 2, 2009·Surgical Oncology Clinics of North America·Thomas J McGarrity, Christopher Amos
Jul 8, 2008·Gastroentérologie Clinique Et Biologique·S BonnefoyJ-P Algayres
Jun 5, 2007·Best Practice & Research. Clinical Gastroenterology·Karsten SchulmannWolff Schmiegel
Jan 4, 2006·Surgical Oncology Clinics of North America·Miguel A Rodriguez-BigasJohn M Skibber
Jun 19, 2009·Head & Neck·William J Harb, Erich M Sturgis
Jul 25, 2009·The Breast Journal·Henry L ChangAllan M Goldstein
May 8, 2009·Nature Reviews. Gastroenterology & Hepatology·Susanne W CarmackGregory Y Lauwers
Mar 16, 2006·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Lorene E BattsHolger Kulessa
Sep 2, 2008·Clinical Genetics·A OrricoV Sorrentino
Aug 22, 2012·ANZ Journal of Surgery·Mark Omundsen, Francis F Lam
Nov 30, 2012·Journal of Gastroenterology and Hepatology·Emmanuel C GorospeLouis-Michel Wong Kee Song
Dec 22, 2009·The Laryngoscope·Henry R DiggelmannHenry T Hoffman
Dec 6, 2008·Surgical Oncology Clinics of North America·Peter A Learn, Morton S Kahlenberg
Jul 11, 2006·Clinics in Dermatology·Kenneth D Burman, Lynn McKinley-Grant
Apr 25, 2006·Journal of the American Academy of Dermatology·Pearl GrimesJean-Paul Ortonne
Nov 6, 2004·The Medical Clinics of North America·Sapna SyngalC Richard Boland
Dec 20, 2002·Gastroenterology Clinics of North America·Lisa A Boardman
Jul 21, 2004·Cancer Cell·James Brugarolas, William G Kaelin
May 15, 2012·Biochimica Et Biophysica Acta·Maik DahlhoffMarlon R Schneider
Jan 26, 2005·The American Journal of Gastroenterology·Ian Roy SchreibmanThomas J McGarrity
Mar 17, 2005·World Journal of Gastroenterology : WJG·Hajime IsomotoShigeru Kohno
Oct 26, 2005·Journal of Gastroenterology and Hepatology·Elizabeth Chow, Finlay Macrae
Jul 8, 2008·Familial Cancer·Alice WooThomas J McGarrity

❮ Previous
Next ❯

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.