Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Volume: 149, Issue: 4, Pages: 1017 - 1029
Published: Oct 1, 2015
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...
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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
Volume
149
Issue
4
Pages
1017 - 1029
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