Literature DB >> 24811117

Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.

J L Martín Ruiz1, M J Alvarez-Cubero, F Fernandez Rosado, E Martinez Espín, C Entrala Bernal.   

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Year:  2014        PMID： 24811117     DOI： 10.1007/s00384-014-1890-2

Source DB:  PubMed          Journal:  Int J Colorectal Dis        ISSN： 0179-1958            Impact factor:   2.571


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  4 in total

Review 1.  Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

Authors:  Michael P Farrell; David J Hughes; Ian R Berry; David J Gallagher; Emily A Glogowski; Stewart J Payne; Michael J Kennedy; Róisín M Clarke; Susan A White; Cian B Muldoon; Fiona Macdonald; Pauline Rehal; Danielle Crompton; Solvig Roring; Sarah T Duke; Trudi McDevitt; David E Barton; Shirley V Hodgson; Andrew J Green; Peter A Daly
Journal:  Fam Cancer       Date:  2012-09       Impact factor: 2.375

Review 2.  Microsatellite instability in colorectal cancer.

Authors:  C Richard Boland; Ajay Goel
Journal:  Gastroenterology       Date:  2010-06       Impact factor: 22.682

3.  Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.

Authors:  M P Farrell; D J Hughes; M Drost; A J Wallace; R J Cummins; T A Fletcher; M A Meany; E W Kay; N de Wind; D G Power; E J Andrews; A J Green; D J Gallagher
Journal:  Fam Cancer       Date:  2013-12       Impact factor: 2.375

4.  MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.

Authors:  Ester Borràs; Marta Pineda; Ignacio Blanco; Ethan M Jewett; Fei Wang; Alex Teulé; Trinidad Caldés; Miguel Urioste; Cristina Martínez-Bouzas; Joan Brunet; Judith Balmaña; Asunción Torres; Teresa Ramón y Cajal; Judit Sanz; Lucía Pérez-Cabornero; Sergi Castellví-Bel; Angel Alonso; Angel Lanas; Sara González; Víctor Moreno; Stephen B Gruber; Noah A Rosenberg; Bhramar Mukherjee; Conxi Lázaro; Gabriel Capellá
Journal:  Cancer Res       Date:  2010-09-21       Impact factor: 12.701
  4 in total

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