PTEN hamartoma tumor syndrome: an overview

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Judith A Hobert, Charis Eng


PTEN hamartoma tumor syndrome (PHTS) encompasses four major clinically distinct syndromes associated with germline mutations in the tumor suppressor PTEN. These allelic disorders, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome are associated with unregulated cellular proliferation leading to the formation of hamartomas. Thus far, an increased risk of malignancy has only been documented in Cowden syndrome; however, current recommendations advise that all individuals with PTEN hamartoma tumor syndrome follow the cancer surveillance strategies suggested for Cowden syndrome until further data indicate otherwise. Because any individual phenotypic feature of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are frequently present in the general population, many individuals often go undiagnosed and consequently do not benefit from available cancer surveillance strategies. Therefore, it is critical for clinicians to recognize the phenotypic features associated with these syndromes to accurately diagnose and provide preventative care. This overview details the clinical description of the PTEN hamartoma tumor syndrome and associated disorders, their diagnosis and molecular/genetic test...Continue Reading

Associated Clinical Trials


Jun 1, 1978·Cancer·M H BrownsteinJ B Bikowski
Oct 11, 1992·American Journal of Medical Genetics·R J GorlinB A Burke
Mar 1, 1986·Clinical Genetics·T M StarinkA W Eriksson
Jun 6, 1998·Science·J R HoweL A Aaltonen
Jan 14, 1999·The New England Journal of Medicine·L C HartmannR B Jenkins
Jun 9, 1999·American Journal of Medical Genetics·L G BieseckerM M Cohen
Jun 8, 2000·Journal of the National Cancer Institute·G L MutterC Eng
Aug 3, 2000·Human Mutation·D Bonneau, M Longy
Mar 10, 2001·Journal of Medical Genetics·J D FackenthalO I Olopade
Jul 17, 2001·Dermatology : International Journal for Clinical and Investigative Dermatology·C HildenbrandS Lautenschlager
Aug 10, 2001·American Journal of Medical Genetics·A GoffinJ P Fryns
Mar 5, 2002·American Journal of Human Genetics·Kristin A Waite, Charis Eng
Aug 26, 2003·Human Mutation·Charis Eng
Jan 1, 1963·Annals of Internal Medicine·K M LLOYD, M DENNIS
Oct 22, 2003·Journal of Medical Genetics·J H M MerksR C M Hennekam
Nov 17, 2005·JAMA : the Journal of the American Medical Association·Kevin SweetCharis Eng
Sep 5, 2006·Cellular and Molecular Life Sciences : CMLS·T J McGarrity, C Amos
Dec 15, 2006·Nature Reviews. Cancer·Kevin M Zbuk, Charis Eng
Sep 5, 2007·Nature Clinical Practice. Gastroenterology & Hepatology·Kevin M Zbuk, Charis Eng
Jun 1, 1997·Journal of Genetic Counseling·C Eng

❮ Previous
Next ❯


Dec 24, 2010·JAMA : the Journal of the American Medical Association·Kristi L BennettCharis Eng
Jul 4, 2013·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Hardeep Singh Mudhar, Neil K Rogers
May 4, 2011·Familial Cancer·Maya B Lodish, Constantine A Stratakis
Mar 2, 2011·Journal of Mammary Gland Biology and Neoplasia·Amy S Clark, Susan M Domchek
Aug 7, 2012·Current Gastroenterology Reports·Swati G Patel, Dennis J Ahnen
Dec 30, 2011·Current Neurology and Neuroscience Reports·Anita VillaniUri Tabori
Apr 13, 2013·Trends in Cell Biology·Adam Naguib, Lloyd C Trotman
Jan 21, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Judith A HobertCharis Eng
May 23, 2012·Antioxidants & Redox Signaling·Samuel LeeRichard T Lee
Sep 16, 2010·Current Opinion in Oncology·Ellen T Matloff, Rachel E Barnett
May 10, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jessica Moline, Charis Eng
Mar 27, 2012·The American Journal of Surgical Pathology·Kyle C KurekHarry P W Kozakewich
Aug 1, 2012·The Cancer Journal·Michele Gabree, Meredith Seidel
Jun 8, 2012·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·M H NieuwenhuisH F A Vasen
May 4, 2011·Molecular and Cellular Biology·Jung-Sik KimTodd Waldman
Aug 13, 2011·American Journal of Physiology. Gastrointestinal and Liver Physiology·Do-Sun ByunJohn M Mariadason
Apr 7, 2010·Obstetrics and Gynecology International·Norasate SamarnthaiI-Tien Yeh
Apr 27, 2012·International Journal of Cell Biology·Jimmie E FataMarcia V Fournier
Jan 27, 2011·Cancer Research·Arkaitz CarracedoPier Paolo Pandolfi
Jan 19, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Min-Han TanCharis Eng
Jul 17, 2012·Journal of Molecular Endocrinology·Abby F FleischAndrea A Baccarelli
Jul 1, 2010·Case Reports in Medicine·Darshana D Rasalkar, Bhawan K Paunipagar
Aug 3, 2013·AJNR. American Journal of Neuroradiology·R BhargavaN Leonard
Jan 15, 2014·Psychopharmacology·Kristel T E KleijerJ Peter H Burbach
Dec 7, 2013·Cellular Oncology (Dordrecht)·Eugenia Yiannakopoulou
Jan 5, 2013·Biochimica Et Biophysica Acta·S E KorsseW van Veelen
Jun 1, 2014·Archives of Pathology & Laboratory Medicine·Stefan Kraft, Scott R Granter
Apr 11, 2012·EMBO Molecular Medicine·Sandra GoebbelsKlaus-Armin Nave
Nov 26, 2010·Annual Review of Pathology·Eric R Fearon
Nov 15, 2011·Cellular and Molecular Life Sciences : CMLS·Almass-Houd Aguissa-Touré, Gang Li
Mar 21, 2012·Der Internist·I Spier, S Aretz
Jun 6, 2014·Nuclear Medicine and Molecular Imaging·Giorgio TregliaLuca Giovanella
Feb 20, 2016·Journal of the American Academy of Dermatology·Efthymia SouraHensin Tsao
Jan 4, 2012·The Journal of Cell Biology·Jason HowittSeong-Seng Tan
Mar 13, 2016·Journal of the American College of Surgeons·Valerie P Grignol, Doreen M Agnese
May 19, 2012·The Surgical Clinics of North America·R Dawn Fevurly, Steven J Fishman
Jun 2, 2011·Mayo Clinic Proceedings·Peter P StanichMrinal M Patnaik
Sep 8, 2010·Hematology/oncology Clinics of North America·Deborah Hemel, Susan M Domchek
Sep 8, 2010·Hematology/oncology Clinics of North America·Derek G PowerSteven M Lipkin
Sep 28, 2010·Radiologic Clinics of North America·Edward A Sickles

❮ Previous
Next ❯

Related Concepts

Related Feeds


Aphasia affects the ability to process language, including formulation and comprehension of language and speech, as well as the ability to read or write. Here is the latest research on aphasia.

Related Papers

European Journal of Human Genetics : EJHG
Gideon M Blumenthal, Phillip A Dennis
Seminars in Oncology
Shanna GustafsonCharis Eng
© 2022 Meta ULC. All rights reserved