Literature DB >> 22872101

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012.

Stefan Aretz1, Maurizio Genuardi, Frederik J Hes.   

Abstract

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Year:  2012        PMID： 22872101      PMCID： PMC3533318          DOI： 10.1038/ejhg.2012.163

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  14 in total

1.  Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

Authors:  Natalie Jones; Stefanie Vogt; Maartje Nielsen; Daria Christian; Petra A Wark; Diana Eccles; Emma Edwards; D Gareth Evans; Eamonn R Maher; Hans F Vasen; Frederik J Hes; Stefan Aretz; Julian R Sampson
Journal:  Gastroenterology       Date:  2009-04-23       Impact factor: 22.682

2.  Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

Authors:  Stefanie Vogt; Natalie Jones; Daria Christian; Christoph Engel; Maartje Nielsen; Astrid Kaufmann; Verena Steinke; Hans F Vasen; Peter Propping; Julian R Sampson; Frederik J Hes; Stefan Aretz
Journal:  Gastroenterology       Date:  2009-09-02       Impact factor: 22.682

3.  Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

Authors:  Maartje Nielsen; Mirjam C Joerink-van de Beld; Natalie Jones; Stefanie Vogt; Carli M Tops; Hans F A Vasen; Julian R Sampson; Stefan Aretz; Frederik J Hes
Journal:  Gastroenterology       Date:  2008-10-30       Impact factor: 22.682

4.  MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

Authors:  Stefan Aretz; Siegfried Uhlhaas; Heike Goergens; Kirsten Siberg; Matthias Vogel; Constanze Pagenstecher; Elisabeth Mangold; Reiner Caspari; Peter Propping; Waltraut Friedl
Journal:  Int J Cancer       Date:  2006-08-15       Impact factor: 7.396

5.  Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis.

Authors:  Karam S Boparai; Evelien Dekker; Susanne Van Eeden; Mirjam M Polak; Joep F W M Bartelsman; Elisbeth M H Mathus-Vliegen; Josbert J Keller; Carel J M van Noesel
Journal:  Gastroenterology       Date:  2008-09-20       Impact factor: 22.682

6.  Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.

Authors:  Sean P Cleary; Michelle Cotterchio; Mark A Jenkins; Hyeja Kim; Robert Bristow; Roger Green; Robert Haile; John L Hopper; Loic LeMarchand; Noralane Lindor; Patrick Parfrey; John Potter; Ban Younghusband; Steven Gallinger
Journal:  Gastroenterology       Date:  2008-12-27       Impact factor: 22.682

Review 7.  MUTYH-associated polyposis.

Authors:  Julian R Sampson; Natalie Jones
Journal:  Best Pract Res Clin Gastroenterol       Date:  2009       Impact factor: 3.043

8.  Germline susceptibility to colorectal cancer due to base-excision repair gene defects.

Authors:  Susan M Farrington; Albert Tenesa; Rebecca Barnetson; Alice Wiltshire; James Prendergast; Mary Porteous; Harry Campbell; Malcolm G Dunlop
Journal:  Am J Hum Genet       Date:  2005-05-03       Impact factor: 11.025

9.  Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.

Authors:  Giovana T Torrezan; Felipe C C da Silva; Ana C V Krepischi; Érika M M Santos; Fábio de O Ferreira; Benedito M Rossi; Dirce M Carraro
Journal:  BMC Med Genet       Date:  2011-09-30       Impact factor: 2.103

10.  MUTYH Associated Polyposis (MAP).

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

1.  Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.

Authors:  Maria Teresa Ricci; Sara Miccoli; Daniela Turchetti; Davide Bondavalli; Alessandra Viel; Michele Quaia; Elisa Giacomini; Viviana Gismondi; Lupe Sanchez-Mete; Vittoria Stigliano; Aline Martayan; Filomena Mazzei; Margherita Bignami; Luigina Bonelli; Liliana Varesco
Journal:  J Hum Genet       Date:  2016-11-10       Impact factor: 3.172

Review 2.  Familial Gastric Cancers.

Authors:  Namrata Setia; Jeffrey W Clark; Dan G Duda; Theodore S Hong; Eunice L Kwak; John T Mullen; Gregory Y Lauwers
Journal:  Oncologist       Date:  2015-09-30

3.  Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.

Authors:  Stefan Aretz; Hans F A Vasen; Sylviane Olschwang
Journal:  Eur J Hum Genet       Date:  2014-09-24       Impact factor: 4.246

4.  Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.

Authors:  Dai-Xiang Liao; Bing Li; Xue-Mei Du; Jun-Hui Yu; Hong Chang; Zhi-Qiang Wu; Hao-Jie Hao; You-Xin Wang; Wei-Dong Han; Shu-Jun Cheng; Cheng-Hua Luo
Journal:  Fam Cancer       Date:  2014-09       Impact factor: 2.375

5.  A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.

Authors:  Shan-Shan Jiang; Jian-Jun Li; Yin Li; Long-Jun He; Qi-Jing Wang; D Sheng Weng; Ke Pan; Qing Liu; Jing-Jing Zhao; Qiu-Zhong Pan; Xiao-Fei Zhang; Yan Tang; Chang-Long Chen; Hong-Xia Zhang; Guo-Liang Xu; Yi-Xin Zeng; Jian-Chuan Xia
Journal:  Oncotarget       Date:  2015-09-29

6.  Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

Authors:  Kazuya Shinmura; Masanori Goto; Hong Tao; Hisami Kato; Rie Suzuki; Satoki Nakamura; Tomonari Matsuda; Guang Yin; Makiko Morita; Suminori Kono; Haruhiko Sugimura
Journal:  Oxid Med Cell Longev       Date:  2014-03-23       Impact factor: 6.543

7.  A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.

Authors:  Zhao Zhang; Shengran Liang; Hui Huang; Dan Wang; Xipeng Zhang; Jing Wu; Huishuang Chen; Yanyan Wang; Tingting Rong; Yulin Zhou; Santasree Banerjee
Journal:  Oncotarget       Date:  2016-08-02

8.  A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis.

Authors:  Zhao Zhang; Shengyun Liang; Dan Wang; Shengran Liang; Yuwei Li; Bingjie Wang; Tao Jiang; Guoru Zhao; Xipeng Zhang; Santasree Banerjee
Journal:  Sci Rep       Date:  2017-09-27       Impact factor: 4.379

9.  A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.

Authors:  Dan Wang; Shengyun Liang; Zhao Zhang; Guoru Zhao; Yuan Hu; Shengran Liang; Xipeng Zhang; Santasree Banerjee
Journal:  Oncotarget       Date:  2017-03-28

10.  Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

Authors:  Giovana Tardin Torrezan; Felipe Cavalcanti Carneiro da Silva; Erika Maria Monteiro Santos; Ana Cristina Victorino Krepischi; Maria Isabel Waddington Achatz; Samuel Aguiar; Benedito Mauro Rossi; Dirce Maria Carraro
Journal:  Orphanet J Rare Dis       Date:  2013-04-05       Impact factor: 4.123
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