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Comprehensive paired tumor/germline testing for Lynch syndrome: Bringing resolution to the diagnostic process

Journal of Clinical Oncology Feb 06, 2019

Salvador MU, et al. - To better assess the value of this testing methodology, researchers evaluated the results of paired tumor/germline testing for Lynch syndrome (LS) in a large cohort of patients (N = 702) with colorectal cancer (CRC) and endometrial cancer (EC) via this retrospective review. Using paired testing, a cause for mismatch-repair–deficient (MMRd) tumors was identified in 76% and 61% of patients without and with prior LS germline testing, respectively. The inclusion of tumor sequencing as well as comprehensive LS germline testing in the LS testing algorithm is thus supported by this study. For LS, paired testing allows a comprehensive, convenient appraisal with high diagnostic resolution.

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