Literature DB >> 16769400

Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.

Irene Marcos1, Salud Borrego, Miguel Urioste, Carmen García-Vallés, Guillermo Antiñolo.   

Abstract

Hereditary nonpolyposis colon cancer (HNPCC) is an autosomal dominant disorder characterized by the predisposition to develop a number of cancers, especially colorectal cancer (CRC). We present a HNPCC family with CRC at age 12 years. Our observations suggest that the germline mutation of the both copies of the MLH1 gene may play a role in the early onset of CRC.

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Year:  2006        PMID： 16769400     DOI： 10.1016/j.jpeds.2006.01.009

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  8 in total

1.  Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.

Authors:  Zandrè Bruwer; Ursula Algar; Alvera Vorster; Karen Fieggen; Alan Davidson; Paul Goldberg; Helen Wainwright; Rajkumar Ramesar
Journal:  J Genet Couns       Date:  2013-10-15       Impact factor: 2.537

2.  Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.

Authors:  Marcia Cruz-Correa; Yaritza Diaz-Algorri; Julyann Pérez-Mayoral; Wasilah Suleiman-Suleiman; Maria del Mar Gonzalez-Pons; Carlos Bertrán; Nicolás Casellas; Natalia Rodríguez; Sherly Pardo; Keyla Rivera; Rafael Mosquera; Segundo Rodriguez-Quilichini
Journal:  Fam Cancer       Date:  2015-09       Impact factor: 2.375

3.  Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

Authors:  Annette Y Sunga; Charité Ricker; Carin R Espenschied; Danielle Castillo; Marilena Melas; Josef Herzog; Sarah Bannon; Marcia Cruz-Correa; Patrick Lynch; Ilana Solomon; Stephen B Gruber; Jeffrey N Weitzel
Journal:  Cancer Genet       Date:  2017-02-09

4.  Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome.

Authors:  Juan M Marqués-Lespier; Yaritza Diaz-Algorri; Maria Gonzalez-Pons; Marcia Cruz-Correa
Journal:  Gastroenterol Res Pract       Date:  2014-10-20       Impact factor: 2.260

5.  No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Authors:  Victoria K Tesch; Hanna IJspeert; Andrea Raicht; Daniel Rueda; Nerea Dominguez-Pinilla; Luis M Allende; Chrystelle Colas; Thorsten Rosenbaum; Denisa Ilencikova; Hagit N Baris; Michaela H M Nathrath; Manon Suerink; Danuta Januszkiewicz-Lewandowska; Iman Ragab; Amedeo A Azizi; Soeren S Wenzel; Johannes Zschocke; Wolfgang Schwinger; Matthias Kloor; Claudia Blattmann; Laurence Brugieres; Mirjam van der Burg; Katharina Wimmer; Markus G Seidel
Journal:  Front Immunol       Date:  2018-07-02       Impact factor: 7.561

6.  A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Authors:  Richard Gallon; Barbara Mühlegger; Sören-Sebastian Wenzel; Harsh Sheth; Christine Hayes; Stefan Aretz; Karin Dahan; William Foulkes; Christian P Kratz; Tim Ripperger; Amedeo A Azizi; Hagit Baris Feldman; Anne-Laure Chong; Ugur Demirsoy; Benoît Florkin; Thomas Imschweiler; Danuta Januszkiewicz-Lewandowska; Stephan Lobitz; Michaela Nathrath; Hans-Jürgen Pander; Vanesa Perez-Alonso; Claudia Perne; Iman Ragab; Thorsten Rosenbaum; Daniel Rueda; Markus G Seidel; Manon Suerink; Julia Taeubner; Stefanie-Yvonne Zimmermann; Johannes Zschocke; Gillian M Borthwick; John Burn; Michael S Jackson; Mauro Santibanez-Koref; Katharina Wimmer
Journal:  Hum Mutat       Date:  2019-03-06       Impact factor: 4.878

7.  A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.

Authors:  Alejandra Padua-Bracho; José A Velázquez-Aragón; Verónica Fragoso-Ontiveros; Paulina María Nuñez-Martínez; María de la Luz Mejía Aguayo; Yuliana Sánchez-Contreras; Miguel Angel Ramirez-Otero; Marcela Angélica De la Fuente-Hernández; Silvia Vidal-Millán; Talia Wegman-Ostrosky; Abraham Pedroza-Torres; Cristian Arriaga-Canon; Luis A Herrera-Montalvo; Rosa Maria Alvarez-Gómez
Journal:  Int J Mol Sci       Date:  2022-09-30       Impact factor: 6.208

8.  High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Authors:  Maribel González-Acosta; Fátima Marín; Benjamin Puliafito; Gabriel Capellá; Marta Pineda; Nuria Bonifaci; Anna Fernández; Matilde Navarro; Hector Salvador; Francesc Balaguer; Silvia Iglesias; Angela Velasco; Elia Grau Garces; Victor Moreno; Luis Ignacio Gonzalez-Granado; Pilar Guerra-García; Rosa Ayala; Benoît Florkin; Christian Kratz; Tim Ripperger; Thorsten Rosenbaum; Danuta Januszkiewicz-Lewandowska; Amedeo A Azizi; Iman Ragab; Michaela Nathrath; Hans-Jürgen Pander; Stephan Lobitz; Manon Suerink; Karin Dahan; Thomas Imschweiler; Ugur Demirsoy; Joan Brunet; Conxi Lázaro; Daniel Rueda; Katharina Wimmer
Journal:  J Med Genet       Date:  2019-09-07       Impact factor: 6.318
  8 in total

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