Literature DB >> 18022921

Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer.

Karim Bougatef1, Raja Marrakchi, Nadia Kourda, Yannick Blondeau Ben Lahely, Sarra Baltagi Jileni, Houssein K El Khil, Florent Soubrier, Amel Ben Ammar Elgaaied.   

Abstract

The MutYH gene is an adenine-specific DNA glycosylase that prevents G/T transversions. Germline mutation in this gene causes MYH-associated polyposis (MAP) that predispose to hereditary colorectal cancer (CRC). This study describes for the first time the association of the MutYH mutation with sporadic CRC. From the 48 Tunisian sporadic CRC cases analyzed, two patients showed somatic mutation of the MutYH gene. In addition, the two hotspot germline mutations MutYH Y165C and G382D seem to be infrequent in sporadic CRC.

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Year:  2007        PMID： 18022921      PMCID： PMC6649000          DOI： 10.1002/jcla.20198

Source DB:  PubMed          Journal:  J Clin Lab Anal        ISSN： 0887-8013            Impact factor:   2.352


  12 in total

1.  Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified.

Authors:  Robyn Lynne Ward; Jenny Turner; Rachel Williams; Brita Pekarsky; Deborah Packham; Marija Velickovic; Alan Meagher; Terence O'Connor; Nicholas John Hawkins
Journal:  J Pathol       Date:  2005-12       Impact factor: 7.996

2.  Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.

Authors:  Anna M Russell; Jian Zhang; Judith Luz; Pierre Hutter; Pierre O Chappuis; Claudine Rey Berthod; Philippe Maillet; Hansjakob Mueller; Karl Heinimann
Journal:  Int J Cancer       Date:  2006-04-15       Impact factor: 7.396

3.  Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.

Authors:  Sarah E R Halford; Andrew J Rowan; Lara Lipton; Oliver M Sieber; Kevin Pack; Huw J W Thomas; Shirley V Hodgson; Walter F Bodmer; Ian P M Tomlinson
Journal:  Am J Pathol       Date:  2003-05       Impact factor: 4.307

4.  Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Authors:  Nada Al-Tassan; Nikolas H Chmiel; Julie Maynard; Nick Fleming; Alison L Livingston; Geraint T Williams; Angela K Hodges; D Rhodri Davies; Sheila S David; Julian R Sampson; Jeremy P Cheadle
Journal:  Nat Genet       Date:  2002-01-30       Impact factor: 38.330

5.  Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.

Authors:  Michiko Miyaki; Takeru Iijima; Tatsuro Yamaguchi; Tsunekazu Hishima; Kazuo Tamura; Joji Utsunomiya; Takeo Mori
Journal:  Mutat Res       Date:  2005-10-15       Impact factor: 2.433

6.  Implication of MYH in colorectal polyposis.

Authors:  Jérémie H Lefevre; Christelle M Rodrigue; Najat Mourra; Malika Bennis; Jean-François Flejou; Rolland Parc; Emmanuel Tiret; Christian Gespach; Yann R Parc
Journal:  Ann Surg       Date:  2006-12       Impact factor: 12.969

7.  Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Authors:  Oliver M Sieber; Lara Lipton; Michael Crabtree; Karl Heinimann; Paulo Fidalgo; Robin K S Phillips; Marie-Luise Bisgaard; Torben F Orntoft; Lauri A Aaltonen; Shirley V Hodgson; Huw J W Thomas; Ian P M Tomlinson
Journal:  N Engl J Med       Date:  2003-02-27       Impact factor: 91.245

8.  Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

Authors:  Julian R Sampson; Sunil Dolwani; Sian Jones; Diana Eccles; Anthony Ellis; D Gareth Evans; Ian Frayling; Sheila Jordan; Eamonn R Maher; Tony Mak; Julie Maynard; Francesca Pigatto; Joan Shaw; Jeremy P Cheadle
Journal:  Lancet       Date:  2003-07-05       Impact factor: 79.321

9.  Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein.

Authors:  J P McGoldrick; Y C Yeh; M Solomon; J M Essigmann; A L Lu
Journal:  Mol Cell Biol       Date:  1995-02       Impact factor: 4.272

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

Authors:  Glória Isidro; Francisco Laranjeira; Ana Pires; Júlio Leite; Fernando Regateiro; F Castro e Sousa; José Soares; Clara Castro; João Giria; Maria J Brito; Ana Medeira; Ricardo Teixeira; Henrique Morna; Isabel Gaspar; Carla Marinho; Rosa Jorge; António Brehm; J Silva Ramos; Maria Guida Boavida
Journal:  Hum Mutat       Date:  2004-10       Impact factor: 4.878
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  5 in total

1.  High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

Authors:  Rania Abdelmaksoud-Dammak; Imen Miladi-Abdennadher; Ali Amouri; Nabil Tahri; Lobna Ayadi; Abdelmajid Khabir; Foued Frikha; Ali Gargouri; Raja Mokdad-Gargouri
Journal:  Fam Cancer       Date:  2012-09       Impact factor: 2.375

Review 2.  zzm321990 MUTYH as an Emerging Predictive Biomarker in Ovarian Cancer.

Authors:  Megan L Hutchcraft; Holly H Gallion; Jill M Kolesar
Journal:  Diagnostics (Basel)       Date:  2021-01-06

Review 3.  A Review of Cancer Genetics and Genomics Studies in Africa.

Authors:  Solomon O Rotimi; Oluwakemi A Rotimi; Bodour Salhia
Journal:  Front Oncol       Date:  2021-02-15       Impact factor: 5.738

4.  MUTYH Associated Polyposis (MAP).

Authors:  M L M Poulsen; M L Bisgaard
Journal:  Curr Genomics       Date:  2008-09       Impact factor: 2.236

Review 5.  MUTYH the base excision repair gene family member associated with colorectal cancer polyposis.

Authors:  Seyed Mohammad Hossein Kashfi; Mina Golmohammadi; Faeghe Behboudi; Ehsan Nazemalhosseini-Mojarad; Mohammad Reza Zali
Journal:  Gastroenterol Hepatol Bed Bench       Date:  2013
  5 in total

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