Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas

Human Mutation
Glória IsidroMaria Guida Boavida

Abstract

Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH polyposis brings new and important implications for the diagnostic, screening, genetic counseling, follow up and therapeutic options in these patients. In this study, screening for germinal mutations in the MYH gene was performed in 53 Portuguese individuals with multiple colorectal adenomas or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene. The results revealed the presence of biallelic germline MYH mutations in 21 patients. In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described.

Citations

Jun 22, 2007·Nature·Sheila S DavidSucharita Kundu
Oct 13, 2007·Genetic Testing·Sébastien KüryStéphane Bézieau
Jun 4, 2005·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·J S LeiteF Castro-Sousa
Apr 4, 2012·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·M CasperJ Raedle
Sep 1, 2006·Journal of Clinical Pathology·M NielsenF J Hes
Aug 7, 2010·BMC Cancer·Isabel López-VillarJoaquín Martínez-López
Jan 1, 2005·Hereditary Cancer in Clinical Practice·Waltraut Friedl, Stefan Aretz
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
Mar 2, 2010·Breast Cancer Research and Treatment·Marijke WasielewskiMieke Schutte
Dec 21, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Val V ZvereffKenneth J Friedman
Mar 1, 2012·Familial Cancer·Flavio LejbkowiczGad Rennert
Mar 6, 2013·Familial Cancer·Marcia Cruz-CorreaSegundo Rodriguez-Quilichini
Jul 29, 2010·Critical Reviews in Oncology/hematology·Maartje NielsenFrederik J Hes
Oct 2, 2009·Surgical Oncology Clinics of North America·Heather Hampel
Sep 8, 2009·Gastroenterology·Stefanie VogtStefan Aretz
May 6, 2009·Best Practice & Research. Clinical Gastroenterology·Julian R Sampson, Natalie Jones
Mar 5, 2009·Best Practice & Research. Clinical Gastroenterology·Noralane M Lindor
May 26, 2007·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·M SulováM Kohoutová
Mar 21, 2007·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Francesc BalaguerUNKNOWN Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
Mar 30, 2011·Clinical Genetics·J H LefevreY Parc
Aug 7, 2012·International Journal of Cancer. Journal International Du Cancer·Elisa PinAlessandra Viel
Jan 16, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jennifer A InraFay Kastrinos
Feb 4, 2012·Free Radical Research·Harini SampathR Stephen Lloyd
Nov 11, 2016·Journal of Human Genetics·Maria Teresa RicciLiliana Varesco
Dec 20, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Francesca CattaneoGuglielmina Nadia Ranzani
Jan 16, 2007·Journal of Surgical Oncology·Marina E CroitoruSteven Gallinger
Nov 21, 2007·Journal of Clinical Laboratory Analysis·Karim BougatefAmel Ben Ammar Elgaaied
Feb 28, 2008·European Journal of Human Genetics : EJHG·Verena SteinkeUNKNOWN German HNPCC Consortium
Jan 15, 2019·Diseases of the Colon and Rectum·Noha El HachemJean Christophe Saurin
Mar 25, 2006·International Journal of Cancer. Journal International Du Cancer·Stefan AretzWaltraut Friedl

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