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

Authors :
Baron, John A.
Young, Joanne P.
Lindor, Noralane M.
Walsh, Michael D.
Southey, Melissa C.
Win, Aung Ko
Macrae, Finlay A.
Gallinger, Steven
Boussioutas, Alex
Haile, Robert W.
Clendenning, Mark
Derycke, Melissa
Poplawski, Nicola K.
Jenkins, Mark A.
Eriksen, Stine V.
Winship, Ingrid M.
Newcomb, Polly A.
Hopper, John L.
Buchanan, Daniel D.
Arnold, Julie
Casey, Graham
Potter, John D.
Le Marchand, Loïc
Thibodeau, Stephen N.
Parry, Susan
Rosty, Christophe
Publisher :
The University of North Carolina at Chapel Hill University Libraries

Abstract

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 cases. We determined the prevalence of MLH1 germline mutations in a large cohort of individuals with a CRC demonstrating solitary loss of PMS2 expression.

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.doi...........cd6e373734b0c3538a8588e8115de735