«Pendant des siècles, la Médecine s’est préoccupée de soigner. Aujourd’hui elle s'est donnée comme but de prévenir plutôt que de guérir.»
Pr Jean Dausset, Prix Nobel de Médecine, 1980
La Fondation Jean Dausset - Centre d’Etude du Polymorphisme Humain participe aux efforts nationaux et internationaux de recherche pour mieux déterminer le rôle du polymorphisme génétique chez l’Homme, tout particulièrement dans les maladies complexes, pour mieux les comprendre, les diagnostiquer et participer au développement d’une médecine personnalisée.

CEPH Publications by year


Major Publications2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007

Mauger F, How-Kit A, Tost J. COLD-PCR technologies in the area of personalized medicine: Methodology and Applications. Mol Diagn Ther. 2017 Jan 18. doi: 10.1007/s40291-016-0254-8.

Louveau B, Tost J, Mauger F, Sadoux A, Podgorniak MP, How-Kit A, Pages C, Roux J, Da Meda L, Lebbe C, Mourah S. Clinical value of early detection of circulating tumour DNA-BRAFV600mut in patients with metastatic melanoma treated with a BRAF inhibitor. ESMO Open June 21, 2 (2) e000173; DOI: 10.1136/esmoopen-2017-000173

How-Kit A, Teyssier E, Deleuze JF, Gallusci P. Locus-specific DNA methylation analysis and applications to plants. Epigenetics. 2017 May. (pp. 303-327). doi: 10.1007/978-3-319-55520-1_16.

Scelo G, Purdue MP, Brown KM, Johansson M, Wang Z, Eckel-Passow JE, Ye Y, Hofmann JN, Choi J, Foll M, Gaborieau V, Machiela MJ, Colli LM, Li P, Sampson JN, Abedi-Ardekani B, Besse C, Blanche H, Boland A, Burdette L, Chabrier A, Durand G, Le Calvez-Kelm F, Prokhortchouk E, Robinot N, Skryabin KG, Wozniak MB, Yeager M, Basta-Jovanovic G, Dzamic Z, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubiński J, Navratilova M, Rudnai P, Szeszenia-Dabrowska N, Benhamou S, Cancel-Tassin G, Cussenot O, Baglietto L, Boeing H, Khaw KT, Weiderpass E, Ljungberg B, Sitaram RT, Bruinsma F, Jordan SJ, Severi G, Winship I, Hveem K, Vatten LJ, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Freeman LEB, Koutros S, Albanes D, Männistö S, Weinstein S, Clark PE, Edwards TL, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Michael Gaziano J, Sesso HD, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Teh BT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Wood C, Eisen T, Henrion M, Larkin J, Barman P, Leibovich BC, Choueiri TK, Mark Lathrop G, Rothman N, Deleuze JF, McKay JD, Parker AS, Wu X, Houlston RS, Brennan P, Chanock SJ. Genome-wide association study identifies multiple risk loci for renal cell carcinoma. Nat Commun. 2017 Jun 9;8:15724. doi: 10.1038/ncomms15724.

Grassmann F, Kiel C, Zimmermann ME, Gorski M, Grassmann V, Stark K; International AMD Genomics Consortium (IAMDGC), Heid IM, Weber BH. Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. Genome Med. 2017 Mar 27;9(1):29. doi: 10.1186/s13073-017-0418-0.

Curtit E, Pivot X, Henriques J, Paget-Bailly S, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulié P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Lévy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Kerbrat P, Faure-Mercier C, Blanché H, Sahbatou M, Boland A, Bacq D, Besse C, Thomas G, Deleuze JF, Pauporté I, Romieu G, Cox DG. Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes. Breast Cancer Res. 2017 Aug 22;19(1):98. doi: 10.1186/s13058-017-0888-4.

Machiela MJ, Hofmann JN, Carreras-Torres R, Brown KM, Johansson M, Wang Z, Foll M, Li P, Rothman N, Savage SA, Gaborieau V, McKay JD, Ye Y, Henrion M, Bruinsma F, Jordan S, Severi G, Hveem K, Vatten LJ, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Freeman LEB, Koutros S, Albanes D, Mannisto S, Weinstein S, Clark PE, Edwards TE, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Gaziano JM, Sesso HS, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Colli LM, Sampson JN, Besse C, Blanche H, Boland A, Burdette L, Prokhortchouk E, Skryabin KG, Yeager M, Mijuskovic M, Ognjanovic M, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubiński J, Navratilova M, Rudnai P, Szeszenia-Dabrowska N, Benhamou S, Cancel-Tassin G, Cussenot O, Bueno-de-Mesquita HB, Canzian F, Duell EJ, Ljungberg B, Sitaram RT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Wood C, Eisen T, Larkin J, Choueiri TK, Lathrop GM, Teh BT, Deleuze JF, Wu X, Houlston RS, Brennan P, Chanock SJ, Scelo G, Purdue MP. Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma. Eur Urol. 2017 Nov;72(5):747-754. doi: 10.1016/j.eururo.2017.07.015. Epub 2017 Aug 7.

Pivot X, Romieu G, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulié P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Lévy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Agostini C, Kerbrat P, Faure-Mercier C, Blanché H, Sahbatou M, Boland A, Bacq D, Besse C, Calvo F, Renaud A, Deleuze JF, Pauporté I, Thomas G, Cox DG. Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort. NPJ Breast Cancer. 2017 Feb 23;3:4. doi: 10.1038/s41523-017-0005-y. eCollection 2017.

Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Sénéchal A, Deleuze JF, Blanché-Koch H, Boland A, Carroll P, Geneviève D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S, Meunier I. A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322.

Eric Letouzé, Jayendra Shinde, Victor Renault, Gabrielle Couchy, Jean-Frédéric Blanc, Emmanuel Tubacher, Jérémy Semhoun, Vincent Meyer, Delphine Bacq, Paulette Bioulac-Sage, Sophie Prévôt, Daniel Azoulay, Valérie Paradis, Sandrine Imbeaud, Jean-François Deleuze & Jessica Zucman-Rossi. Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis. Nature Communications 2017 Nov 3;8(1):1315. doi: 10.1038/s41467-017-01358-x.

Wang-Renault Shu-Fang, Boudaoud Saida, Nocturne Gaetane, Daviaud Christian, Bugge Tinggaard Andreas, Renault Victor, Deleuze Jean-François, Mariette Xavier, Tost Jorg. Deregulation of microRNA expression in purified T and B lymphocytes from patients with primary Sjögren's syndrome. Annals of the Rheumatic Diseases 2017 Sep 15. pii: annrheumdis-2017-211417. doi: 10.1136/annrheumdis-2017-211417. [Epub ahead of print]

Diana Tronik-Le Roux, Julie Renard, Jérôme Vérine, Victor Renault, Emmanuel Tubacher, Joël Le Maoult, Nathalie Rouas-Freiss, Jean-François Deleuze, François Desgrandschamps, Edgardo D. Carosella. Novel landscape of HLA-G isoforms expressed in clear cell renal cell carcinoma patients. Molecular Oncology 2017 Nov;11(11):1561-1578. doi: 10.1002/1878-0261.12119. Epub 2017 Sep 13.

J Delyon, S Chevret, T Jouary, S Dalac, S Dalle, B Guillot, JP Arnault, MF Avril, C Bedane, G Bens, M Beylot-Barry, M D.Incan, F Grange, L Machet, N Meyer, L Misery, P Saiag, Z Idir, V Renault, JF Deleuze, E Hindie, M Battistella, N Dumaz, S Mourah, C Lebbé ; and the GCC (French Group of Skin Cancer). STAT3 mediates Nilotinib response in KIT-altered Melanoma: a Phase II Multicenter Trial of the French Skin Cancer Network. Journal of Investigative Dermatology 2017 Aug 24. pii: S0022-202X(17)32802-6. doi: 10.1016/j.jid.2017.07.839. [Epub ahead of print]

Friederike Flachsbart, Janina Dose, Liljana Gentschew, Claudia Geismann, Amke Caliebe, Carolin Knecht, Marianne Nygaard, Nandini Badarinarayan, Abdou Elsharawy, Sandra May, Anne Luzius, Guillermo Torres, Marlene Jentzsch, Michael Forster, Robert Häsler, Kathrin Pallauf, Wolfgang Lieb, Celine Derbois, Pilar Galan, Dmitriy Drichel, Alexander Arlt, Andreas Till, Ben Krause-Kyora, Gerald Rimbach, Hélène Blanché, Jean-François Deleuze, Lene Christiansen, Kaare Christensen, Michael Nothnagel, Philip Rosenstiel, Stefan Schreiber, Andre Franke, Susanne Sebens, and Almut Nebel Identification and characterization of two functional variants in the human longevity gene FOXO3 Nat Commun. 2017 Dec 12;8(1):2063. doi: 10.1038/s41467-017-02183-y.

Suchon P, Germain M, Delluc A, Smadja D, Jouven X, Gyorgy B, Saut N, Ibrahim M, Deleuze JF, Alessi MC, Morange PE, Trégouët D Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk. Sci Rep. 2017 Apr 4;7:45507. doi: 10.1038/srep45507.

Renault V, Tost J, Pichon F, Wang-Renault SF, Letouzé E, Imbeaud S, Zucman-Rossi J, Deleuze JF, How-Kit A aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations. PLoS One. 2017 Dec 19;12(12):e0189334. doi: 10.1371/journal.pone.0189334. eCollection 2017.

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