TY  - JOUR 
AU  - Bodo, S.
AU  - Colas, C.
AU  - Buhard, O.
AU  - Collura, A.
AU  - Tinat, J.
AU  - Lavoine, N.
AU  - Guilloux, A.
AU  - Chalastanis, A.
AU  - Lafitte, P.
AU  - Coulet, F.
AU  - Buisine, M. P.
AU  - Ilencikova, D.
AU  - Ruiz Ponte, Clara
AU  - Kinzel, M.
AU  - Grandjouan, S.
AU  - Brems, H.
AU  - Lejeune, S.
AU  - Blanché, H.
AU  - Wang, Q.
AU  - Caron, O.
AU  - Cabaret, O.
AU  - Svrcek, M.
AU  - Vidaud, D.
AU  - Parfait, B.
AU  - Verloes, A.
AU  - Knappe, U. J.
AU  - Soubrier, F.
AU  - Mortemousque, I.
AU  - Leis, A.
AU  - Auclair-Perrossier, J.
AU  - Frébourg, T.
AU  - Fléjou, J. F.
AU  - Entz-Werle, N.
AU  - Leclerc, J.
AU  - Malka, D.
AU  - Cohen-Haguenauer, O.
AU  - Goldberg, Y.
AU  - Gerdes, A. M.
AU  - Fedhila, F.
AU  - Mathieu-Dramard, M.
AU  - Hamelin, R.
AU  - Wafaa, B.
AU  - Gauthier-Villars, M.
AU  - Bourdeaut, F.
AU  - Sheridan, E.
AU  - Vasen, H.
AU  - Brugières, L.
AU  - Wimmer, K.
AU  - Muleris, M.
AU  - Duval, A.
PY  - 2015
SN  - 0016-5085
UR  - http://hdl.handle.net/20.500.11940/8152
AB  - 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...
LA  - eng
KW  - Adaptor Proteins, Signal Transducing
KW  - Adenosine Triphosphatases
KW  - Adult
KW  - Antineoplastic Agents, Alkylating
KW  - Biomarkers, Tumor
KW  - Brain Neoplasms
KW  - Caco-2 Cells
KW  - Case-Control Studies
KW  - Colorectal Neoplasms
KW  - Colorectal Neoplasms, Hereditary Nonpolyposis
KW  - DNA Mutational Analysis
KW  - DNA Repair Enzymes
KW  - DNA-Binding Proteins
KW  - Drug Resistance, Neoplasm
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Germ-Line Mutation
KW  - HCT116 Cells
KW  - Heredity
KW  - Humans
KW  - Lymphocytes
KW  - Male
KW  - Methylation
KW  - Microsatellite Instability
KW  - Mismatch Repair Endonuclease PMS2
KW  - Multiplex Polymerase Chain Reaction
KW  - MutL Protein Homolog 1
KW  - MutS Homolog 2 Protein
KW  - Neoplastic Syndromes, Hereditary
KW  - Nuclear Proteins
KW  - Phenotype
KW  - Predictive Value of Tests
KW  - Reproducibility of Results
KW  - Transfection
KW  - Young Adult
KW  - Colon Cancer
KW  - Functional Tests
KW  - Predisposition
KW  - Tumor
TI  - Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
DO  - 10.1053/j.gastro.2015.06.013
T2  - Gastroenterology
M2  - 1017
VL  - 149
ER  -