Journal article
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing
DD Buchanan, YY Tan, MD Walsh, M Clendenning, AM Metcalf, K Ferguson, ST Arnold, BA Thompson, FA Lose, MT Parsons, RJ Walters, SA Pearson, M Cummings, MK Oehler, PB Blomfield, MA Quinn, JA Kirk, CJ Stewart, A Obermair, JP Young Show all
Journal of Clinical Oncology | Published : 2014
Abstract
Purpose: Clinicopathologic data from a population-based endometrial cancer cohort, unselected for age or family history, were analyzed to determine the optimal scheme for identification of patients with germline mismatch repair (MMR) gene mutations. Patients and Methods: Endometrial cancers from 702 patients recruited into the Australian National Endometrial Cancer Study (ANECS) were tested for MMR protein expression using immunohistochemistry (IHC) and for MLH1 gene promoter methylation in MLH1-deficient cases. MMR mutation testing was performed on germline DNA of patients with MMR-protein deficient tumors. Prediction of germline mutation status was compared for combinations of tumor charac..
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Awarded by National Cancer Institute
Funding Acknowledgements
Australian National Endometrial Cancer Study was supported by project grants from the National Health and Medical Research Council (NHMRC) of Australia (Grant No. 339435); The Cancer Council Queensland (Grant No. 4196615); Cancer Council Tasmania (Grant No. 403031 and Grant No. 457636); and Cancer Australia (Grant No. 1010859). A.B.S. and P.W. are supported by NHMRC Senior Research Fellowships. Y.Y.T. is supported by an International Postgraduate Research Scholarship, the University of Queensland Centennial Scholarship, and Advantage Top-Up Scholarship. D.D.B. was supported by the Australasian Colorectal Cancer Family Registry (Grant No. U01 CA097735).