«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

Henn BM, Botigué LR, Peischl S, Dupanloup I, Lipatov M, Maples BK, Martin AR, Musharoff S, Cann H, Snyder MP, Excoffier L, Kidd JM, Bustamante CD Distance from sub-Saharan Africa predicts mutational load in diverse human genomes Proc Natl Acad Sci U S A 2016 Jan 26;113(4):E440-9 doi: 10.1073/pnas.1510805112

Victor JM, Debret G, Lesne A, Pascoe L, Carrivain P, Wainrib G, Hugot JP Network Modeling of Crohn's Disease Incidence PLoS One 2016 Jun 16;11(6):e0156138 doi: 10.1371/journal.pone.0156138.

Cox DG, Curtit E, 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, Faure-Mercier C, Blanché H, Sahbatou M, Boland A, Bacq D, Besse C, Deleuze JF, Pauporté I, Thomas G, Pivot X GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients Oncotarget 2016 Oct 14 doi: 10.18632/oncotarget.12669.

Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Sa&imul;d S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA Jr, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants Nat Genet 2016 Feb;48(2):134-43 doi: 10.1038/ng.3448.

Turesky RJ, Yun BH, Brennan P, Mates D, Jinga V, Harnden P, Banks RE, Blanche H, Bihoreau MT, Chopard P, Letourneau L, Lathrop GM, Scelo G Aristolochic acid exposure in Romania and implications for renal cell carcinoma Br J Cancer 2016 Jan 12;114(1):76-80 doi: 10.1038/bjc.2015.402.

Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group., Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma Nature 2016 Mar 3;531(7592):126 doi: 10.1038/nature16158 No abstract available

Yaghi L, Poras I, Simoes RT, Donadi EA, Tost J, Daunay A, de Almeida BS, Carosella ED, Moreau P Hypoxia inducible factor-1 mediates the expression of the immune checkpoint HLA-G in glioma cells through hypoxia response element located in exon 2 Oncotarget 2016 Aug 26 doi: 10.18632/oncotarget.11628.

Bjaanæs MM, Fleischer T, Halvorsen AR, Daunay A, Busato F, Solberg S, Jørgensen L, Kure E, Edvardsen H, Børresen-Dale AL, Brustugun OT, Tost J, Kristensen V, Helland Å Genome-wide DNA methylation analyses in lung adenocarcinomas: Association with EGFR, KRAS and TP53 mutation status, gene expression and prognosis Mol Oncol 2016 Feb;10(2):330-43 doi: 10.1016/j.molonc.2015.10.021.

Mauger F, Daunay A, Deleuze JF, Tost J, How-Kit A. Multiplexing of E-ice-COLD-PCR Assays for Mutation Detection and Identification. Chem. 2016 Jun 22. pii: clinchem.2016.258830.

Guégan S, Kadlub N, Picard A, Rouillé T, Charbel C, Coulomb-L'Hermine A, How-Kit A, Fraitag S, Aractingi S, Fontaine RH. Varying proliferative and clonogenic potential in NRAS-mutated congenital melanocytic nevi according to size. Exp Dermatol. 2016 May 19. doi: 10.1111/exd.13073.

Mourah S, How-Kit A, Meignin V, Gossot D, Lorillon G, Bugnet E, Mauger F, Lebbe C, Chevret S, Tost J, Tazi A. Recurrent NRAS mutations in pulmonary Langerhans cell histiocytosis. Eur Respir J. 2016 Apr 13. pii: ERJ-01677-2015. doi: 10.1183/13993003.01677-2015. [Epub ahead of print]

Boureau L, How-Kit A, Teyssier E, Drevensek S, Rainieri M, Joubès J, Stammitti L, Pribat A, Bowler C, Hong Y, Gallusci P. A CURLY LEAF homologue controls both vegetative and reproductive development of tomato plants. Plant Mol Biol. 2016 Feb 4. [Epub ahead of print]PMID: 26846417

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC); International Parkinson's Disease Genomics Consortium IPDGC. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016 Mar 3;98(3):500-13. doi: 10.1016/j.ajhg.2016.01.014.

Flachsbart F, Ellinghaus D, Gentschew L, Heinsen FA, Caliebe A, Christiansen L, Nygaard M, Christensen K, Blanché H, Deleuze JF, Derbois C, Galan P, Büning C, Brand S, Peters A, Strauch K, Müller-Nurasyid M, Hoffmann P, Nöthen MM, Lieb W, Franke A, Schreiber S, Nebel A. Immunochip analysis identifies association of the RAD50/IL13 region with human longevity. Aging Cell. 2016 Mar 22. doi: 10.1111/acel.12471.

Buhard O, Lagrange A, Guilloux A, Colas C, Chouchène M, Wanherdrick K, Coulet F, Guillerm E, Dorard C, Marisa L, Bokhari A, Greene M, El-Murr N, Bodo S, Muleris M, Sourouille I, Svrcek M, Cervera P,Blanché H, Lefevre JH, Parc Y, Lepage C, Chapusot C, Bouvier AM, Gaub MP, Selves J, Garrett K, Iacopetta B, Soong R, Hamelin R, Garrido C, Lascols O, André T, Fléjou JF, Collura A, Duval A. HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer. J Med Genet. 2016 Feb 1. pii: jmedgenet-2015-103518. doi: 10.1136/jmedgenet-2015-103518.

Ferrari A, Vincent-Salomon A, Pivot X, Sertier AS, Thomas E, Tonon L, Boyault S, Mulugeta E, Treilleux I, MacGrogan G, Arnould L, Kielbassa J, Le Texier V, Blanché H, Deleuze JF, Jacquemier J, Mathieu MC, Penault-Llorca F, Bibeau F, Mariani O, Mannina C, Pierga JY, Trédan O, Bachelot T, Bonnefoi H, Romieu G, Fumoleau P, Delaloge S, Rios M, Ferrero JM, Tarpin C, Bouteille C, Calvo F, Gut IG, Gut M, Martin S, Nik-Zainal S, Stratton MR, Pauporté I, Saintigny P, Birnbaum D, Viari A, Thomas G. A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers. Nat Commun. 2016 Jul 13;7:12222. doi: 10.1038/ncomms12222.

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