A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome

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Abstract
A diagnosis of HNPCC in an MTS patient is of major importance for both the patient and his/her close relatives, as all family members who inherited the DNA MMR defect have a substantially higher risk for HNPCC malignancies and should therefore undergo regular cancer surveillance examinations. Identification of the underlying DNA MMR germline mutation in the index patient enables predictive genetic testing of his/her family members at risk.

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