Article
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Gastroenterology - 1 Oct 2015
Bodo Sahra, Colas Chrystelle, Buhard Olivier, Collura Ada, Tinat Julie, Lavoine Noémie, Guilloux Agathe, Chalastanis Alexandra, Lafitte Philippe, Coulet Florence, Buisine Marie-Pierre, Ilencikova Denisa, Ruiz-Ponte Clara, Kinzel Miriam, Grandjouan Sophie, Brems Hilde, Lejeune Sophie, Blanché Hélène, Wang Qing, Caron Olivier, Cabaret Odile, Svrcek Magali, Vidaud Dominique, Parfait Béatrice, Verloes Alain, Knappe Ulrich J, Soubrier Florent, Mortemousque Isabelle, Leis Alexander, Auclair-Perrossier Jessie, Frébourg Thierry, Fléjou Jean-François, Entz-Werle Natacha, Leclerc Julie, Malka David, Cohen-Haguenauer Odile, Goldberg Yael, Gerdes Anne-Marie, Fedhila Faten, Mathieu-Dramard Michèle, Hamelin Richard, Wafaa Badre, Gauthier-Villars Marion, Bourdeaut Franck, Sheridan Eamonn, Vasen Hans, Brugières Laurence, Wimmer Katharina, Muleris Martine, Duval Alex
Abstract excerpt
BACKGROUND & AIMS: Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or 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...
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