Direct-to-consumer genetic testing services: what are the medical benefits?

by Frebourg, Thierry
Published 2012

A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila

by Feuillette, Sébastien, Charbonnier, Camille, Frebourg, Thierry, Campion, Dominique, Lecourtois, Magalie
Published in Front Neurosci (2020)

Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial

by Caron, Olivier, Frebourg, Thierry, Benusiglio, Patrick R., Foulon, Stéphanie, Brugières, Laurence
Published in JAMA Oncol (2017)

Reply to Kratz et al.

by Frebourg, Thierry, Lagercrantz, Svetlana Bajalica, Oliveira, Carla, Magenheim, Rita, Evans, D. Gareth
Published in Eur J Hum Genet (2020)

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

by Frebourg, Thierry, Bajalica Lagercrantz, Svetlana, Oliveira, Carla, Magenheim, Rita, Evans, D. Gareth
Published in Eur J Hum Genet (2020)

Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions

by Mirkovic, Bojan, Laurent, Claudine, Podlipski, Marc-Antoine, Frebourg, Thierry, Cohen, David, Gerardin, Priscille
Published in Front Psychiatry (2016)

Germline TP53 Testing in Breast Cancers: Why, When and How?

by Evans, D. Gareth, Woodward, Emma R., Bajalica-Lagercrantz, Svetlana, Oliveira, Carla, Frebourg, Thierry
Published in Cancers (Basel) (2020)

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila

by Pons, Marine, Prieto, Silvia, Miguel, Laetitia, Frebourg, Thierry, Campion, Dominique, Suñé, Carles, Lecourtois, Magalie
Published in Acta Neuropathol Commun (2018)

Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children

by Bougeard, Gaëlle, Charbonnier, Françoise, Moerman, Alexandre, Martin, Cosette, Ruchoux, Marie M., Drouot, Nathalie, Frébourg, Thierry
Published 2003

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage

by Zerdoumi, Yasmine, Lanos, Raphaël, Raad, Sabine, Flaman, Jean-Michel, Bougeard, Gaëlle, Frebourg, Thierry, Tournier, Isabelle
Published in Hum Mol Genet (2017)

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage

by Zerdoumi, Yasmine, Lanos, Raphaël, Raad, Sabine, Flaman, Jean-Michel, Bougeard, Gaëlle, Frebourg, Thierry, Tournier, Isabelle
Published in Hum Mol Genet (2017)

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

by Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
Published in PLoS Genet (2016)

Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

by Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
Published in PLoS Genet (2016)

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

by Houlle, Solene, Charbonnier, Françoise, Houivet, Estelle, Tinat, Julie, Buisine, Marie-Pierre, Caron, Olivier, Benichou, Jacques, Baert-Desurmont, Stéphanie, Frebourg, Thierry
Published 2011

Reply to Talseth-Palmer et al

by Houlle, Solene, Charbonnier, Françoise, Houivet, Estelle, Tinat, Julie, Buisine, Marie-Pierre, Caron, Olivier, Benichou, Jacques, Baert-Desurmont, Stéphanie, Frebourg, Thierry
Published 2012

Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis

by Phang, Beng Hooi, Othman, Rashidah, Bougeard, Gaelle, Chia, Ren Hui, Frebourg, Thierry, Tang, Choong Leong, Cheah, Peh Yean, Sabapathy, Kanaga
Published in Proc Natl Acad Sci U S A (2015)

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

by Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire
Published in Mol Cytogenet (2021)

Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome

by Heymann, Steve, Delaloge, Suzette, Rahal, Arslane, Caron, Olivier, Frebourg, Thierry, Barreau, Lise, Pachet, Corinne, Mathieu, Marie-Christine, Marsiglia, Hugo, Bourgier, Céline
Published 2010

Worse prognosis of KRAS c.35 G > A mutant metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx)

by Bruera, Gemma, Cannita, Katia, Di Giacomo, Daniela, Lamy, Aude, Frébourg, Thierry, Sabourin, Jean Christophe, Tosi, Mario, Alesse, Edoardo, Ficorella, Corrado, Ricevuto, Enrico
Published 2013

Regulatory T Lymphocytes Are Associated with Less Aggressive Histologic Features in Microsatellite-Unstable Colorectal Cancers

by Tougeron, David, Maby, Pauline, Elie, Nicolas, Fauquembergue, Émilie, Le Pessot, Florence, Cornic, Marie, Sabourin, Jean-Christophe, Michel, Pierre, Frébourg, Thierry, Latouche, Jean-Baptiste
Published 2013