The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals-Reference-Cited by-同舟云学术

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

Published:2014-04-17 Issue:4 Volume:9 Page:e95022
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Abulí Anna,Bujanda Luis,Muñoz Jenifer,Buch Stephan,Schafmayer Clemens,Valeria Maiorana Maria,Veneroni Silvia,van Wezel Tom,Liu Tao,Westers Helga,Esteban-Jurado Clara,Ocaña Teresa,Piqué Josep M.,Andreu Montserrat,Jover Rodrigo,Carracedo Angel,Xicola Rosa M.,Llor Xavier,Castells Antoni,Dunlop Malcolm,Hofstra Robert,Lindblom Annika,Wijnen Juul,Peterlongo Paolo,Hampe Jochen,Ruiz-Ponte Clara,Castellví-Bel Sergi,

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference29 articles.

1. Hereditary and familial colon cancer;KW Jasperson;Gastroenterology,2010

2. Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future;LJ Rasmussen;Hum Mutat,2012

3. LOVD v.2.0: the next generation in gene variant databases;IF Fokkema;Hum Mutat 2011,2011

4. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR);EC Chao;Hum Mutat,2008

5. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects;I Tournier;Hum Mutat,2008

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1. Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging;Nature Communications;2021-08-18

2. MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging;2021-01-14

3. Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome;Journal of Medical Genetics;2019-11-29

4. Lynch-like syndrome is as frequent as Lynch syndrome in early-onset nonfamilial nonpolyposis colorectal cancer;International Journal of Cancer;2019-02-23

5. Evaluation of a new genetic family history screening questionnaire for identifying Lynch syndrome;The Nurse Practitioner;2017-08-17