Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

OBJECTIVES: Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation in PMS2, previous studies reported MLH1 mutation in some case...

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Publicado en:BMJ Open
Main Authors: Rosty, Christophe, Clendenning, Mark, Walsh, Michael D, Eriksen, Stine V, Southey, Melissa C, Winship, Ingrid M, Macrae, Finlay A, Boussioutas, Alex, Poplawski, Nicola K, Parry, Susan, Arnold, Julie, Young, Joanne P, Casey, Graham, Haile, Robert W, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A, Potter, John D, DeRycke, Melissa, Lindor, Noralane M, Thibodeau, Stephen N, Baron, John A, Win, Aung Ko, Hopper, John L, Jenkins, Mark A, Buchanan, Daniel D
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2016
Assuntos:
Gastroenterology and Hepatology
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4762074/
https://ncbi.nlm.nih.gov/pubmed/26895986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2015-010293
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