Literature DB >> 23017166

Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.

M Clendenning, F A Macrae, M D Walsh, R J Walters, S N Thibodeau, S R Gunawardena, J D Potter, R W Haile, S Gallinger, J L Hopper, M A Jenkins, C Rosty, J P Young, D D Buchanan.   

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Year:  2012        PMID： 23017166      PMCID： PMC3557751          DOI： 10.1111/cge.12011

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.

Authors:  Heleen M van der Klift; Carli M Tops; Frederik J Hes; Peter Devilee; Juul T Wijnen
Journal:  Hum Mutat       Date:  2012-04-30       Impact factor: 4.878

2.  Mutation deep within an intron of MSH2 causes Lynch syndrome.

Authors:  Mark Clendenning; Daniel D Buchanan; Michael D Walsh; Belinda Nagler; Christophe Rosty; Bryony Thompson; Amanda B Spurdle; John L Hopper; Mark A Jenkins; Joanne P Young
Journal:  Fam Cancer       Date:  2011-06       Impact factor: 2.375

3.  Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Authors:  Cecily P Vaughn; Jorge Robles; Jeffrey J Swensen; Christine E Miller; Elaine Lyon; Rong Mao; Pinar Bayrak-Toydemir; Wade S Samowitz
Journal:  Hum Mutat       Date:  2010-05       Impact factor: 4.878

4.  Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Authors:  Monika Morak; Udo Koehler; Hans Konrad Schackert; Verena Steinke; Brigitte Royer-Pokora; Karsten Schulmann; Matthias Kloor; Wilhelm Höchter; Josef Weingart; Cortina Keiling; Trisari Massdorf; Elke Holinski-Feder
Journal:  J Med Genet       Date:  2011-06-28       Impact factor: 6.318

5.  Long-range PCR facilitates the identification of PMS2-specific mutations.

Authors:  Mark Clendenning; Heather Hampel; Jennifer LaJeunesse; Annika Lindblom; Jan Lockman; Mef Nilbert; Leigha Senter; Kaisa Sotamaa; Albert de la Chapelle
Journal:  Hum Mutat       Date:  2006-05       Impact factor: 4.878

6.  Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.

Authors:  Asad Umar; C Richard Boland; Jonathan P Terdiman; Sapna Syngal; Albert de la Chapelle; Josef Rüschoff; Richard Fishel; Noralane M Lindor; Lawrence J Burgart; Richard Hamelin; Stanley R Hamilton; Robert A Hiatt; Jeremy Jass; Annika Lindblom; Henry T Lynch; Païvi Peltomaki; Scott D Ramsey; Miguel A Rodriguez-Bigas; Hans F A Vasen; Ernest T Hawk; J Carl Barrett; Andrew N Freedman; Sudhir Srivastava
Journal:  J Natl Cancer Inst       Date:  2004-02-18       Impact factor: 13.506

7.  PMS2 involvement in patients suspected of Lynch syndrome.

Authors:  Renée C Niessen; Jan H Kleibeuker; Helga Westers; Paul O J Jager; Dennie Rozeveld; Krista K Bos; Wytske Boersma-van Ek; Harry Hollema; Rolf H Sijmons; Robert M W Hofstra
Journal:  Genes Chromosomes Cancer       Date:  2009-04       Impact factor: 5.006

8.  The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Authors:  Leigha Senter; Mark Clendenning; Kaisa Sotamaa; Heather Hampel; Jane Green; John D Potter; Annika Lindblom; Kristina Lagerstedt; Stephen N Thibodeau; Noralane M Lindor; Joanne Young; Ingrid Winship; James G Dowty; Darren M White; John L Hopper; Laura Baglietto; Mark A Jenkins; Albert de la Chapelle
Journal:  Gastroenterology       Date:  2008-05-02       Impact factor: 22.682
  8 in total
  5 in total

1.  Clinicopathologic Risk Factor Distributions for MLH1 Promoter Region Methylation in CIMP-Positive Tumors.

Authors:  A Joan Levine; Amanda I Phipps; John A Baron; Daniel D Buchanan; Dennis J Ahnen; Stacey A Cohen; Noralane M Lindor; Polly A Newcomb; Christophe Rosty; Robert W Haile; Peter W Laird; Daniel J Weisenberger
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2015-10-28       Impact factor: 4.254

2.  Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC).

Authors:  Mark A Jenkins; Aung Ko Win; Allyson S Templeton; Maggie S Angelakos; Daniel D Buchanan; Michelle Cotterchio; Jane C Figueiredo; Stephen N Thibodeau; John A Baron; John D Potter; John L Hopper; Graham Casey; Steven Gallinger; Loic Le Marchand; Noralane M Lindor; Polly A Newcomb; Robert W Haile
Journal:  Int J Epidemiol       Date:  2018-04-01       Impact factor: 7.196

3.  Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Authors:  Daniel D Buchanan; Yen Y Tan; Michael D Walsh; Mark Clendenning; Alexander M Metcalf; Kaltin Ferguson; Sven T Arnold; Bryony A Thompson; Felicity A Lose; Michael T Parsons; Rhiannon J Walters; Sally-Ann Pearson; Margaret Cummings; Martin K Oehler; Penelope B Blomfield; Michael A Quinn; Judy A Kirk; Colin J Stewart; Andreas Obermair; Joanne P Young; Penelope M Webb; Amanda B Spurdle
Journal:  J Clin Oncol       Date:  2013-12-09       Impact factor: 44.544

Review 4.  Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

Authors:  Daniel D Buchanan; Christophe Rosty; Mark Clendenning; Amanda B Spurdle; Aung Ko Win
Journal:  Appl Clin Genet       Date:  2014-10-06

5.  Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

Authors:  Christophe Rosty; Mark Clendenning; Michael D Walsh; Stine V Eriksen; Melissa C Southey; Ingrid M Winship; Finlay A Macrae; Alex Boussioutas; Nicola K Poplawski; Susan Parry; Julie Arnold; Joanne P Young; Graham Casey; Robert W Haile; Steven Gallinger; Loïc Le Marchand; Polly A Newcomb; John D Potter; Melissa DeRycke; Noralane M Lindor; Stephen N Thibodeau; John A Baron; Aung Ko Win; John L Hopper; Mark A Jenkins; Daniel D Buchanan
Journal:  BMJ Open       Date:  2016-02-19       Impact factor: 2.692
  5 in total

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