Literature DB >> 22484632

Lynch syndrome diagnostics: decision-making process for germ-line testing.

E Lastra1, M García-González, B Llorente, C Bernuy, M J Barrio, L Pérez-Cabornero, M Durán, C García-Girón.   

Abstract

Cancer risks and medical management of Lynch syndrome (LS) differ from other hereditary or familial clustering of colorectal cancer. Differential diagnosis has improved as a result of the growing clinical and molecular knowledge about LS. Appropriate application of these advances in several scenarios constitutes a decision-making process to further decide germ-line testing with accuracy and efficiency. However, an only molecular-screening algorithm, with a limited number of steps and choices, may be difficult to devise. How, when, where and at what expense to use the different diagnostic tools remain dynamic and changeable under different circumstances. From a clinical point of view, it is advisable to discuss conflicting aspects to guide LS diagnosis.

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Year:  2012        PMID: 22484632     DOI: 10.1007/s12094-012-0793-3

Source DB:  PubMed          Journal:  Clin Transl Oncol        ISSN: 1699-048X            Impact factor:   3.405


  59 in total

Review 1.  Microsatellites in the eukaryotic DNA mismatch repair genes as modulators of evolutionary mutation rate.

Authors:  D K Chang; D Metzgar; C Wills; C R Boland
Journal:  Genome Res       Date:  2001-07       Impact factor: 9.043

2.  Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients.

Authors:  Francesc Balaguer; Judith Balmaña; Sergi Castellví-Bel; Ewout W Steyerberg; Montserrat Andreu; Xavier Llor; Rodrigo Jover; Sapna Syngal; Antoni Castells
Journal:  Gastroenterology       Date:  2007-10-26       Impact factor: 22.682

3.  hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.

Authors:  S Acharya; T Wilson; S Gradia; M F Kane; S Guerrette; G T Marsischky; R Kolodner; R Fishel
Journal:  Proc Natl Acad Sci U S A       Date:  1996-11-26       Impact factor: 11.205

4.  Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer.

Authors:  S Salahshor; K Koelble; C Rubio; A Lindblom
Journal:  Lab Invest       Date:  2001-04       Impact factor: 5.662

5.  Prediction of MLH1 and MSH2 mutations in Lynch syndrome.

Authors:  Judith Balmaña; David H Stockwell; Ewout W Steyerberg; Elena M Stoffel; Amie M Deffenbaugh; Julia E Reid; Brian Ward; Thomas Scholl; Brant Hendrickson; John Tazelaar; Lynn Anne Burbidge; Sapna Syngal
Journal:  JAMA       Date:  2006-09-27       Impact factor: 56.272

6.  Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

Authors:  Marietta E Kovacs; Janos Papp; Zoltan Szentirmay; Szabolcs Otto; Edith Olah
Journal:  Hum Mutat       Date:  2009-02       Impact factor: 4.878

Review 7.  Epigenetic changes in colorectal cancer.

Authors:  Yutaka Kondo; Jean-Pierre J Issa
Journal:  Cancer Metastasis Rev       Date:  2004 Jan-Jun       Impact factor: 9.264

Review 8.  Recent insights into the pathogenesis of colorectal cancer.

Authors:  Ajay Goel; Clement Richard Boland
Journal:  Curr Opin Gastroenterol       Date:  2010-01       Impact factor: 3.287

Review 9.  Regulation of DNA repair in hypoxic cancer cells.

Authors:  Ranjit S Bindra; Meredith E Crosby; Peter M Glazer
Journal:  Cancer Metastasis Rev       Date:  2007-06       Impact factor: 9.264

10.  Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families.

Authors:  Siobhan S Wahlberg; James Schmeits; George Thomas; Massimo Loda; Judy Garber; Sapna Syngal; Richard D Kolodner; Edward Fox
Journal:  Cancer Res       Date:  2002-06-15       Impact factor: 12.701

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  1 in total

Review 1.  Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.

Authors:  M J Duffy; R Lamerz; C Haglund; A Nicolini; M Kalousová; L Holubec; C Sturgeon
Journal:  Int J Cancer       Date:  2013-08-27       Impact factor: 7.396

  1 in total

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