Journal article
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the colon cancer family registry cohort
C Rosty, M Clendenning, MD Walsh, SV Eriksen, MC Southey, IM Winship, FA Macrae, A Boussioutas, NK Poplawski, S Parry, J Arnold, JP Young, G Casey, RW Haile, S Gallinger, L Le Marchand, PA Newcomb, JD Potter, M Derycke, NM Lindor Show all
BMJ Open | BMJ PUBLISHING GROUP | Published : 2016
Abstract
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 cases. We determined the prevalence of MLH1 germline mutations in a large cohort of individuals with a CRC demonstrating solitary loss of PMS2 expression. Design: This cohort study included 88 individuals affected with a PMS2-deficient CRC from the Colon Cancer Family Registry Cohort. Germline PMS2 mutation analysis (long-range PCR and multiplex ligation-dependent probe amplification) was followed by ..
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Grants
Awarded by National Cancer Institute
Funding Acknowledgements
This work was supported by grant UM1 CA167551 from the National Cancer Institute and through cooperative agreements with the following Colon Cancer Family Registry centres: Australasian Colorectal Cancer Family Registry (U01 CA074778 and U01/U24 CA097735), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01/U24 CA074800), Ontario Familial Colorectal Cancer Registry (U01/U24 CA074783), Seattle Colorectal Cancer Family Registry (U01/U24 CA074794), University of Hawaii Colorectal Cancer Family Registry (U01/U24 CA074806), USC Consortium Colorectal Cancer Family Registry U01/U24 CA074799). AKW is an Australian National Health and Medical Research Council (NHMRC) Early Career Fellow. MCS is a NHMRC Senior Research Fellow. JLH is a NHMRC Senior Principal Research Fellow and Distinguished Visiting Professor at Seoul National University, Korea. MAJ is a NHMRC Senior Research Fellow. DDB is a University of Melbourne Research at Melbourne Accelerator Program (R@MAP) Senior Research Fellow. This project was conducted under Colon Cancer Family Registry approval C-CP-0309-01-A1.