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

Author:

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 FranckORCID,Sheridan Eamonn,Vasen Hans,Brugières Laurence,Wimmer Katharina,Muleris MartineORCID,Duval Alex

Publisher

Elsevier BV

Subject

Gastroenterology,Hepatology

Reference42 articles.

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4. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers;Shlien;Nat Genet,2015

5. Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome;Wimmer;J Med Genet,2015

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