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Lynch syndrome is an autosomal dominant syndrome caused by an inherited germline mutation of the MMR proteins. A mutation of any of the MMR proteins, MLH1, MSH2, MSH6, PMS2 and EPCAM increases the risk of developing cancer, specifically colorectal and endometrial cancer. Approximately 3% of colorectal cancers are associated with Lynch Syndrome (LS). Early identification of a patient’s hereditary cancer risk offers the best outcome. To aid clinicians in the identification of a carrier of LS clinical guidelines and risk prediction models are used. In this analysis the Amsterdam II criteria and Revised Bethesda guidelines are compared to the more recent prediction models, PREMM, MMRproand MMRpredictto identify if further tumor testing or germline sequences should be considered. A meta-analysis comparing clinical criteria to the predication models produced results identifying the prediction models with both a specificityand sensitivity of >90% of predicting MMR protein mutations (Win , 2013). The performance of each model compared to Amsterdam or Bethesda guidelines was found to exceed the clinical criteria’s ability to discriminate LS carriers from noncarriers(Katrinos, Balmana,& Syngal, 2013).
Physician Assistant Studies
Master of Physician Assistant Studies (MPAS)
Colorectal Neoplasms, Hereditary Nonpolyposis -- genetics; Genetic Predisposition to Disease -- genetics; Genetic Testing; Germ-Line Mutation; Risk Factors
Ridl, Adria, "Efficacy in Screening Patients for Lynch Syndrome" (2016). Physician Assistant Scholarly Project Posters. 83.