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

Gastroenterology

Volumn 149, Issue 4, 2015, Pages 1017-1029.e3

  Bodo, Sahra ^a,b   Colas, Chrystelle ^a,b,c   Buhard, Olivier ^a,b   Collura, Ada ^a,b   Tinat, Julie ^d   Lavoine, Noémie ^e   Guilloux, Agathe ^a,b   Chalastanis, Alexandra ^a,b   Lafitte, Philippe ^a,b   Coulet, Florence ^b,c   Buisine, Marie Pierre ^f,g   Ilencikova, Denisa ^h   Ruiz Ponte, Clara ⁱ   Kinzel, Miriam ^j   Grandjouan, Sophie ^k   Brems, Hilde ^l   Lejeune, Sophie ^f   Blanché, Hélène ^m   Wang, Qing ⁿ   Caron, Olivier ^e   Cabaret, Odile ^e   Svrcek, Magali ^a,b,o   Vidaud, Dominique ^p   Parfait, Béatrice ^p   Verloes, Alain ^q   Knappe, Ulrich J ^r   Soubrier, Florent ^c   Mortemousque, Isabelle ^s   Leis, Alexander ^t   Auclair Perrossier, Jessie ⁿ   Frébourg, Thierry ^d   Fléjou, Jean François ^a,b,o   Entz Werle, Natacha ^u   Leclerc, Julie ^f,g   Malka, David ^e   Cohen Haguenauer, Odile ^v   Goldberg, Yael ^w   Gerdes, Anne Marie ^x   Fedhila, Faten ^y   Mathieu Dramard, Michèle ^z   Hamelin, Richard ^a,b   Wafaa, Badre ^aa   Gauthier Villars, Marion ^ab   Bourdeaut, Franck ^ac   Sheridan, Eamonn ^ad   Vasen, Hans ^ae   Brugières, Laurence ^e   Wimmer, Katharina ^af   Muleris, Martine ^a,b   Duval, Alex ^a,b   more..

^a CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d Hôpital universitaire   (France)

^e INSTITUT GUSTAVE ROUSSY   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g UNIV LILLE   (France)

^h University Children's Hospital Bratislava   (Slovakia)

ⁱ CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^j Praxis für Medizinische Genetik Berlin   (Germany)

^k Faculté René Descartes Paris V ^*  (France)

^l UNIVERSITY OF LEUVEN   (Belgium)

^m FONDATION JEAN DAUSSET CEPH   (France)

ⁿ CENTRE LÉON BÉRARD   (France)

^o HÔPITAL SAINT ANTOINE   (France)

^p UNIVERSITÉ PARIS DESCARTES   (France)

^q HÔPITAL ROBERT DEBRÉ   (France)

^r KLINIKUM MINDEN   (Germany)

^s UNIVERSITY HOSPITAL OF TOURS   (France)

^t Radiology Department   (Afghanistan)

^u HÔPITAL DE HAUTEPIERRE   (France)

^v SAINT LOUIS HOSPITAL   (France)

^w HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^x Mental Health Services CPH   (Denmark)

^y CHILDREN S HOSPITAL   (Tunisia)

^z AMIENS UNIVERSITY HOSPITAL   (France)

^aa IBN ROCHD UNIVERSITY HOSPITAL   (Morocco)

^ab INSTITUT CURIE   (France)

^ac INSTITUT CURIE   (France)

^ad UNIVERSITY OF LEEDS   (United Kingdom)

^ae LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^af INNSBRUCK MEDICAL UNIVERSITY   (Austria)

more..

Author keywords

Colon Cancer; Functional Tests; Predisposition; Tumor

Indexed keywords

HYDROCORTISONE; TESTOSTERONE; ADENOSINE TRIPHOSPHATASE; ALKYLATING AGENT; DNA BINDING PROTEIN; DNA LIGASE; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; PROTEIN MSH2; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR MARKER;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CUSHING SYNDROME; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDROCORTISONE BLOOD LEVEL; IMMUNOHISTOCHEMISTRY; MYELOLIPOMA; ONCOCYTOMA; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RETROPERITONEUM; SCHOOL CHILD; SYMPTOMATOLOGY; TESTOSTERONE BLOOD LEVEL; VIRILIZATION; ADULT; BRAIN NEOPLASMS; CACO 2 CELL LINE; CASE CONTROL STUDY; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DRUG EFFECTS; DRUG RESISTANCE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC TRANSFECTION; GENETICS; GERMLINE MUTATION; HCT116 CELL LINE; HEREDITY; LYMPHOCYTE; MALE; METABOLISM; METHYLATION; MICROSATELLITE INSTABILITY; MULTIPLEX POLYMERASE CHAIN REACTION; NEOPLASTIC SYNDROMES, HEREDITARY; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PREDICTIVE VALUE; PROCEDURES; REPRODUCIBILITY; VALIDATION STUDY; YOUNG ADULT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADULT; ANTINEOPLASTIC AGENTS, ALKYLATING; BIOMARKERS, TUMOR; BRAIN NEOPLASMS; CACO-2 CELLS; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; DRUG RESISTANCE, NEOPLASM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HCT116 CELLS; HEREDITY; HUMANS; LYMPHOCYTES; MALE; METHYLATION; MICROSATELLITE INSTABILITY; MULTIPLEX POLYMERASE CHAIN REACTION; MUTS HOMOLOG 2 PROTEIN; NEOPLASTIC SYNDROMES, HEREDITARY; NUCLEAR PROTEINS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS; TRANSFECTION; YOUNG ADULT;

EID: 84942342366     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2015.06.013     Document Type: Article

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