Literature DB >> 16284300

PMS2 mutations in childhood cancer.

D T Bonthron, B E Hayward, M De Vos, E Sheridan.   

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Year:  2005        PMID: 16284300      PMCID: PMC1774806          DOI: 10.1136/gut.2005.078816

Source DB:  PubMed          Journal:  Gut        ISSN: 0017-5749            Impact factor:   23.059


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  7 in total

1.  Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).

Authors:  Heleen van der Klift; Juul Wijnen; Anja Wagner; Paul Verkuilen; Carli Tops; Robyn Otway; Maija Kohonen-Corish; Hans Vasen; Cristina Oliani; Daniela Barana; Pal Moller; Celia Delozier-Blanchet; Pierre Hutter; William Foulkes; Henry Lynch; John Burn; Gabriela Möslein; Riccardo Fodde
Journal:  Genes Chromosomes Cancer       Date:  2005-10       Impact factor: 5.006

2.  Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

Authors:  Kaspar Truninger; Mirco Menigatti; Judith Luz; Anna Russell; Ritva Haider; Jan-Olaf Gebbers; Fridolin Bannwart; Hueseyin Yurtsever; Joerg Neuweiler; Hans-Martin Riehle; Maria Sofia Cattaruzza; Karl Heinimann; Primo Schär; Josef Jiricny; Giancarlo Marra
Journal:  Gastroenterology       Date:  2005-05       Impact factor: 22.682

3.  Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

Authors:  Daniel L Worthley; Michael D Walsh; Melissa Barker; Andrew Ruszkiewicz; Graeme Bennett; Kerry Phillips; Graeme Suthers
Journal:  Gastroenterology       Date:  2005-05       Impact factor: 22.682

4.  Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

Authors:  Hidewaki Nakagawa; Janet C Lockman; Wendy L Frankel; Heather Hampel; Kelle Steenblock; Lawrence J Burgart; Stephen N Thibodeau; Albert de la Chapelle
Journal:  Cancer Res       Date:  2004-07-15       Impact factor: 12.701

5.  Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

Authors:  Michel De Vos; Bruce E Hayward; Susan Picton; Eamonn Sheridan; David T Bonthron
Journal:  Am J Hum Genet       Date:  2004-04-07       Impact factor: 11.025

6.  The molecular basis of Turcot's syndrome.

Authors:  S R Hamilton; B Liu; R E Parsons; N Papadopoulos; J Jen; S M Powell; A J Krush; T Berk; Z Cohen; B Tetu
Journal:  N Engl J Med       Date:  1995-03-30       Impact factor: 91.245

7.  Mismatch repair deficiency in phenotypically normal human cells.

Authors:  R Parsons; G M Li; M Longley; P Modrich; B Liu; T Berk; S R Hamilton; K W Kinzler; B Vogelstein
Journal:  Science       Date:  1995-05-05       Impact factor: 47.728

  7 in total
  2 in total

Review 1.  DNA mismatch repair and Lynch syndrome.

Authors:  Guido Plotz; Stefan Zeuzem; Jochen Raedle
Journal:  J Mol Histol       Date:  2006-07-04       Impact factor: 2.611

2.  Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.

Authors:  Sven Gottschling; Harald Reinhard; Constanze Pagenstecher; Stefan Krüger; Jochen Raedle; Guido Plotz; Wolfram Henn; Reinhard Buettner; Sascha Meyer; Norbert Graf
Journal:  Eur J Pediatr       Date:  2007-03-27       Impact factor: 3.183

  2 in total

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