MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps

Gastroenterology
Liang WangStephen N Thibodeau

Abstract

MYH-associated polyposis is a recently described disease that is characterized by multiple colorectal adenomas and a recessive pattern of inheritance. Individuals with MYH-associated polyposis have biallelic mutations in MYH, a base excision repair gene, and are negative for germline mutations in the APC gene. In this study, the 2 most prevalent MYH mutations in white persons, Y165C and G382D, were analyzed for their presence in 984 subjects selected from 3 groups: 400 undergoing screening colonoscopy and found to have 0-3 polyps, 444 with colorectal cancer (CRC), and 140 referred for APC mutation analysis in which a germline mutation was not identified. Genotyping for Y165C and G382D was performed by Pyrosequencing. Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). Furthermore, these 2 MYH mutations were not found among patients whose tumors showed the presence of defective DNA mismatch repair (n = 62). However, the presence of biallelic germline MYH mutations correlated with the presence of >or=20 adenomatous polyps...Continue Reading

References

Sep 1, 1988·The New England Journal of Medicine·L A Cannon-AlbrightR W Burt
Apr 14, 1999·CA: a Cancer Journal for Clinicians·S H LandisP A Wingo
Mar 21, 2001·Human Molecular Genetics·N S FearnheadW F Bodmer
Jan 31, 2002·Nature Genetics·Nada Al-TassanJeremy P Cheadle
Apr 23, 2002·Human Mutation·Hossein Fakhrai-RadMostafa Ronaghi
Feb 28, 2003·The New England Journal of Medicine·Oliver M SieberIan P M Tomlinson
Feb 28, 2003·The New England Journal of Medicine·Giancarlo Marra, Josef Jiricny
Mar 15, 2003·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Päivi Peltomäki
Apr 23, 2003·The American Journal of Pathology·Sarah E R HalfordIan P M Tomlinson

❮ Previous
Next ❯

Citations

Nov 4, 2004·Journal of the National Cancer Institute·Marina E CroitoruSteven Gallinger
Jun 10, 2005·Genetic Testing·X-L ZhouUNKNOWN Swedish Low-Risk Colorectal Cancer Group
Jul 27, 2005·Biochemical Society Transactions·J R SampsonJ P Cheadle
Jan 16, 2007·Journal of Cancer Research and Clinical Oncology·Eyun-Jung ShinBharati Bapat
Jan 26, 2007·Virchows Archiv : an International Journal of Pathology·Jin C KimKang H Lee
Jul 18, 2009·World Journal of Gastroenterology : WJG·Harris BernsteinKaterina Dvorak
Feb 12, 2011·International Journal of Colorectal Disease·Sana Aissi-Ben MoussaMarie-Pierre Buisine
Sep 15, 2012·Techniques in Coloproctology·M Ponz de LeonT Venesio
Feb 13, 2014·European Journal of Human Genetics : EJHG·Monika MorakElke Holinski-Feder
Dec 7, 2014·Digestive Diseases and Sciences·Jennifer A Inra, Sapna Syngal
Nov 14, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Heather HampelUNKNOWN Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committe
Dec 17, 2014·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·E D L UrsoS Pucciarelli
May 6, 2016·Diseases of the Colon and Rectum·James Church, Sara Kravochuck
Oct 27, 2016·Familial Cancer·Maurizio Ponz de LeonLuca Reggiani Bonetti
Jan 14, 2018·International Journal of Clinical Oncology·Misato TakaoHideyuki Ishida
May 1, 2020·Clinical and Translational Gastroenterology·Miren AlustizaRodrigo Jover
Jun 27, 2020·Journal of Clinical Medicine·Mariona TerradasLaura Valle
Oct 6, 2005·Cancer·Christian N ArnoldC Richard Boland
Feb 24, 2005·European Journal of Pediatrics·Silvija JerkicJutta Gärtner
Feb 20, 2007·Familial Cancer·Constance A GriffinFrancis M Giardiello
Nov 18, 2005·Journal of Cancer Research and Clinical Oncology·Linnea M BaudhuinW Edward Highsmith
Jun 29, 2006·British Journal of Cancer·A TenesaS M Farrington
Mar 23, 2011·International Journal of Colorectal Disease·Carlos E PitroskiPatricia Ashton-Prolla
Nov 11, 2010·British Journal of Cancer·E TheodoratouS M Farrington
May 6, 2008·Breast Cancer Research and Treatment·Mario E BeinerSteven A Narod
Aug 2, 2008·The American Journal of Gastroenterology·Deborah W NeklasonScott K Kuwada
Apr 4, 2012·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·M CasperJ Raedle
Dec 14, 2011·The Cancer Journal·Fay Kastrinos, Sapna Syngal
Feb 4, 2012·Free Radical Research·Harini SampathR Stephen Lloyd
Jul 1, 2014·Journal of Surgical Oncology·Carole MacaronCarol A Burke
Aug 1, 2012·The Cancer Journal·Kory W Jasperson
Dec 7, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Madhuri HegdeUNKNOWN Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
Oct 7, 2014·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·B Heald, J Church
Sep 16, 2016·Familial Cancer·Afaf ElsaidCamelia Abdel-Malak
Aug 20, 2019·Mutagenesis·Hongyao Yu, Kari Hemminki

❮ Previous
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