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Journal of Maine Medical Center

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Full-Text Articles in Medical Genetics

Genetic Testing Reveals Germline Mutations Among Patients Undergoing Surgery For Colorectal Carcinoma In A Community Hospital Setting, Alex R. Jones, Dana Greer Rn, Bsn, Ocn, Karin L. Cole Md Aug 2021

Genetic Testing Reveals Germline Mutations Among Patients Undergoing Surgery For Colorectal Carcinoma In A Community Hospital Setting, Alex R. Jones, Dana Greer Rn, Bsn, Ocn, Karin L. Cole Md

Journal of Maine Medical Center

Introduction: Defined germline mutations contribute to 5% to 10% of cases of colorectal carcinoma (CRC). While protocols for universal tumor screening have been adopted to detect mismatch repair (MMR) protein deficiency, widespread multigene panel testing has not been achieved. Barriers to implementing testing protocols may occur in community settings.

Methods: A total of 160 patients presenting for surgical management of CRC between 2011 and 2020 were considered for retrospective analysis in a single-surgeon, single-institution, community-based cohort. The rate of multigene panel testing and prevalence of germline mutations were calculated, and patient characteristics were assessed.

Results: A total of 32/160 (20%) …