Publications by authors named "Jacques Mauillon"

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New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.
Julie Amiot, Lara Gubeljak, Agathe Fontaine, Denis Smith, Isabelle Mortemousque, Jacques Mauillon

Fam Cancer· February 2025

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SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.
Sabine Vautier, Jacques Mauillon, Nathalie Parodi, Jacqueline Bou, Edwige Kasper

Am J Med Genet A· September 2024

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The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
Emmanuelle Masson, Maren Ewers, Sumit Paliwal, Kiyoshi Kume, Virginie Scotet, Jacques Mauillon

Pancreatology· January 2023

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Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Flavie Boulouard, Edwige Kasper, Marie-Pierre Buisine, Gwendoline Lienard, Stéphanie Vasseur, Jacques Mauillon

Clin Genet· May 2021

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Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Julie Leclerc, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Emilie Ait Yahya, Jacques Mauillon

Genet Med· December 2018

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Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Stéphanie Baert-Desurmont, Sophie Coutant, Françoise Charbonnier, Pierre Macquere, François Lecoquierre, Jacques Mauillon

Eur J Hum Genet· November 2018

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Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability.
Bernhard Mlecnik, Gabriela Bindea, Helen K Angell, Pauline Maby, Mihaela Angelova, Jacques Mauillon

Immunity· March 2016

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Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.
Stéphanie Baert-Desurmont, Françoise Charbonnier, Estelle Houivet, Lorena Ippolito, Jacques Mauillon

Eur J Hum Genet· January 2016

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Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy.
Pauline Maby, David Tougeron, Mohamad Hamieh, Bernhard Mlecnik, Hafid Kora, Jacques Mauillon

Cancer Res· September 2015

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Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.
David Tougeron, Emilie Fauquembergue, Alexandre Rouquette, Florence Le Pessot, Richard Sesboüé, Jacques Mauillon

Mod Pathol· September 2009

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[Severe varicella infection during treatment with infliximab for Crohn's disease].
David Tougeron, Jacques Mauillon, Jean-Luc Tranvouez

Gastroenterol Clin Biol· December 2006

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[Hereditary nonpolyposis colorectal cancer. Definition, genetics, diagnosis, and medical surveillance].
Thierry Frebourg, Jacques Mauillon, Gilles Thomas, Sylviane Olschwang

Gastroenterol Clin Biol· January 2004

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