The Clinical Phenotype of Endometrial Cancer in Women of Newfoundland and Labrador with a MSH2 Lynch Syndrome Mutation. A. H. G. Nichols1, L. M. Dawson2, J. Green3, E. Dicks1, P. Parfrey1 1) Patient Research, Memorial University of Newfoundland , St. John's, NL, Canada; 2) Eastern Health, Health Sciences Center, St. John's, NL, Canada; 3) Clinical Genetics, Memorial University of Newfoundland , St. John's, NL, Canada.

   Abstract Endometrial Cancer (EC) is the most common extra-colonic malignancy in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch Syndrome (LS), and in most cases is the first or sentinel cancer. In comparison to colonic cancers, the clinical phenotype of EC has not been as rigorously investigated and the natural history of the disease not well known. The purpose of this study is to examine clinically important variables in known MSH2 mismatch repair gene mutation carriers to that of non-mutation carriers in general population with sporadic EC. Methods Clinical data was abstracted retrospectively from the medical charts of 46 women with a known MSH2 mismatch repair mutation determined through genetic sequencing and that have been previously diagnosed with EC. Medical charts were examined for clinically relevant variables of EC and then compared to sporadic endometrial cancers from the general population. Results The median age of diagnosis of EC found in the cohort of mutation positive individuals was 45.00 years of age. The stage at diagnosis consisted of 64.1% at stage I and 17.4% of this population had papillary serous cell type. Conclusions We conclude that endometrial cancers in HNPCC are being diagnosed at an earlier age and stage of cancer when compared to the general population. This cohort is also presenting with more aggressive cell types resulting in a worse prognosis. Further research regarding the carcinogenic pathway and molecular profile of Lynch Syndrome based endometrial cancers is needed.

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