Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Abstract
Background & Aims null Patients with bi-allelic germline mutations in mismatch repair (MMR) genes ( MLH1 , null MSH2 , null MSH6 , or null PMS2 ) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes...
Paper Details
Title
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Published Date
Oct 1, 2015
Journal
Volume
149
Issue
4
Pages
1017 - 1029
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