Judith FAVIER – Team leader

Judith FAVIER, PhDPHOTO JFAVIER low

Team 13-Genetics and Metabolism of Rare Cancers

After a PhD training in the Collège de France (Paris) and a post-doc at the Montreal Heart Institute focused on the study of HIF2alpha and its role in angiogenesis, I have been recruited by Inserm in 2007. I now lead a research team at the Paris-Cardiovascular Research Centre of the Georges Pompidou Hospital (HEGP) in Paris dedicated to the study of the genetics and biology of rare cancers, and in particular pheochromocytomas and paragangliomas. Our research activity mainly focuses on inherited forms caused by mutations in genes encoding the mitochondrial enzyme sucinate dehydrogenase (SDH) and their role in pseudo-hypoxia, epithelial-to mesenchymal transition and epigenetic modifications.

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Current position———————————————————————————————————————————————————–

  • 2019: Team Leader, Inserm team “Genetics and Metabolism of Rare Cancers”
  • 2014: Research Director (DR2 Inserm) – PARCC-HEGP

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Previous positions———————————————————————————————————————————————————–

  • 2014-2018: co-Team Leader– PARCC-HEGP
  • 2011-2014: Senior Researcher (CR1 Inserm) – PARCC-HEGP
  • 2009: Group leader of the “PPGL” laboratory – PARCC-HEGP, Paris
  • 2007-2011: Junior Researcher (CR2 Inserm) – Collège de France and PARCC-HEGP
  • 2005-2007: Post-doc – Collège de France, Inserm U772
  • 2003-2005: Post-doc – Montreal Heart Institute, Canada

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Editorial functions and  scientific committees———————————————————————————————————————————————————–

  • 2018-now: Associate Editor at Endocrine-related Cancer
  • 2018-now: Elected member of the PPGL working group of the European Network for the Study of Adrenal Tumors
  • 2017-2019: Member of the Scientific Board of the French Society of Endocrinology (SFE)
  • 2016-now: Member of INSERM commission CSS2
  • 2015-now: Co-chair of the international Pheochromocytoma Research Support Organization (PRESSOR).
  • 2015-now: Fouding member of the “Rare Cancers” working group from the Cancéropôle Ile de France
  • 2010-now: Member of the European Network for the Study of Adrenal Tumors (ENS@T)
  • 2009-now: Co-Chairman of the «Animals models» working group from PRESSOR.

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Funding———————————————————————————————————————————————————–

  • 2020-2023    INCA-PLBIO- “MIRENVI”
  • 2019-2020   CARPEM : Appel d’offre Projets émergents
  • 2018-2019    Foncer contre le cancer- “Circulating DNA in metastatic renal cell carcinomas”
  • 2018-2019   CARPEM : Appel d’offre Projets émergents
  • 2017-2020   The Paradifference Foundation
  • 2017-2022   Equipe labéllisée de la Ligue contre le Cancer
  • 2016-2018   The Paradifference Foundation – Metabolic escape of SDHB defective tumours
  • 2015-2016    Cancéropôle Ile-de-France –  Emergence 2015 –« 3D-INVITROPP »
  • 2015-2020    Horizon 2020 – H2020-PHC-2014- « ENS@T-HT»                     
  • 2014              CARPEM : Appel d’offre Projets émergents
  • 2015-2020    Programme for Translational Cancer Research – INCA – “COMETE-TACTIC”
  • 2014-2016    Plan Cancer : Appel à projets Epigénetique et Cancer 2013- «METABEPIC  »
  •  2012-2015    ANR jeunes chercheurs – «MODEOMAPP”. 
  • 2011-2015     FP 7 COOPERATION – HEALTH-2010-2.4.1-5 – « ENS@T-Cancer»
  • 2010               Groupe des Tumeurs Endocrines (GTE)- Sdhb KO mice”
  • 2009-2012    ANR 08 GENOPATH « MITOXY»
  • 2005-2007    Grant from the ARC Fondation 

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Awards———————————————————————————————————————————————————–

  • 2002: Young Researchers award (Fondation Bettencourt-Schueller)
  • 2013-2017: Prize of Scientific Excellence (PEDR Inserm)
  • 2018-2021: Prize of Scientific Excellence (PEDR Inserm)

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Current teaching activities———————————————————————————————————————————————————–

  • since 2018    Lecture on Molecular Genetics of Krebs cycle Alterations in Cancer, Master Sciences de la Vie et de la Santé, Mention européenne de Génétique, Universités Paris Descartes -Paris Diderot
  • since 2018    Lecture on Metabolism and Cancer, module Thérapies ciblées en onco-hématologie, Formation de l’Ecole Doctorale HOB, Université Denis Diderot
  • 2017                e-learning on Metabolism and Cancer, DES Oncologie, Collège National des Enseignants en Cancérologie.
  • since 2013    Lecture on Resistance to anti-angiogenic therapies, Enseignement Pôle Cancérologie et Spécialités, Cours de Cancérologie transversal, HEGP, Paris
  • since 2013    Lecture on Tumor Angiogenesis, Master BCPP, Spécialité « Vaisseaux Hémostase », Université Paris Diderot
  • 2012-2018    Lecture on Genetics of pheochromocytoma Magistère Européen de Génétique, Universités Paris Diderot-Paris Descartes
  • since 2011    Lecture on Pseudohypoxia and cancer, M1 santé, Université Paris Descartes
  • since 2009   Lecture on Resistance to anti-angiogenic therapies,  DES d’oncologie médicale

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Patent———————————————————————————————————————————————————–

  • 2018-  Patent deposit by Inserm Transfert : «Methods for predicting metastatic potential in patients suffering from SDHB-mutated paraganglioma»- EP18306527.5.

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Main Publications———————————————————————————————————————————————————–

  1. Morin A, Goncalves J, Moog S, Buffet, Castro-Vega LJ, Woszczyk J, Fontenille MJ, Gimenez-Roqueplo AP, #Letouzé E and #Favier J. TET-mediated hypermethylation primes SDH-deficient cells for HIF2a driven mesenchymal transition Cell Reports, 2020 Mar 31;30(13):4551-4566.e7.

 

  1. Lussey-Lepoutre C, Bellucci A, Burnichon N, Amar L, Buffet A, Drossart T, Fontaine S, Clément O, Benit P, Rustin P, Groussin L, Meatchi T, Gimenez-Roqueplo AP, Tavitian B and Favier J. Succinate detection by in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas. Eur J Nucl Med Mol Imaging 2020 Jun;47(6):1510-1517
  1. Kluckova K, Thakker A, Hindshaw RL, Tearle JLE, Goncalves J, Lavery GG, Favier J and Tennant DA. Succinate dehydrogenase-deficiency in a chromaffin cell model retains metabolic fitness through the maintenance of mitochondrial NADH oxidoreductase function. FASEB J 34:303–315

 

  1. Favier J, Meatchi, T, Robidel E, Badoual C, Sibony M, Ngyen AT, Gimenez-Roqueplo AP and Burnichon N. CAIX immunohistochemistry as a tool to predict germline and somatic VHL mutations in pheochromocytoma and paraganglioma – A retrospective and prospective study. Modern Pathol ; 2020 Jan;33(1):57-64. 

 

  1. *Job S, *Draskovic I, *Burnichon B, Buffet A, Padilla-Girola M, Venisse A, Robidel E, Cros J, Badoual C, Verkarre V, Sibony M, Amar L, de Reyniès A, Bertherat J, Arturo Londoño-Vallejo A, #Favier J, #Castro-Vega LJ and #Gimenez-Roqueplo AP. Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma. Clin Cancer Res, 2019 ;25(2):760-770. « Highly Cited Paper »

 

  1. Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Raingeard I, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, #Gimenez-Roqueplo AP and #Favier J. Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier SLC25A11 gene confer a predisposition to metastatic paragangliomas. Cancer Res 2018; 78(8):1914-1922 « Highly Cited Paper »
  1. Lussey-Lepoutre C, Buffet A, Morin A, Goncalves J, and Favier J. Rodent models of pheochromocytoma, parallels in rodent and human tumorigenesis. Cell and Tissue Res 2018; May;372(2):379-392 (IF 2.8). Invited Review
  1. Lussey-Lepoutre C, Buffet A, Gimenez-Roqueplo A-P and Favier J. Mitochondrial deficiencies in the predisposition to paraganglioma. Metabolites 2017; 7(2). Invited Review
  1. Castro-Vega LJ, Kiand RS, Buffet A, Burnichon N, Khalifa E, Simian C, Galan P, Amar a, Bouatia-Naji N, #Favier J, #Bressac-de Paillerets B, #Gimenez-Roqueplo AP. The MITF, p.E318K variant as a risk factor for pheochromocytomas and paragangliomas. J Clin Endocrinol Metab. 2016 ; 101(12):4764-4768
  1. *Lussey-Lepoutre C, *Bellucci A, Morin A, Buffet A, Amar L, Janin M, Martinelli C, Ottolenghi C, Zinzindohoué F, Autret G, Burnichon N, Robidel E, Banting B, Fontaine S, Cuenod CA, Benit P, Rustin P, Halimi P, Fournier L, Gimenez-Roqueplo AP, #Favier J and #Tavitian B. In vivo detection of succinate by magnetic resonnace spectroscopy as a hallmark of SDHx mutations in paraganglioma. Clin Cancer Res. 2016;22(5):1120-9.
  1. Lepoutre-Lussey C, Thibault C, Buffet A, Morin A, Badoual C, Benit P, Rustin P, Ottolenghi C, Janin M, Castro-Vega L-J, Trapman J, Gimenez-Roqueplo A-P and Favier J. From NF1 to SDHB knockout : the quest for animal models of pheochromocytoma. Mol Cell Endocrinol. 2016; 421:40-8.
  1. *Lussey-Lepoutre C, *Hollinshead KER, Ludwig C, Menara M, Morin A, Castro-Vega LJ, Parker SJ, Janin M, Martinelli C, Ottolenghi C, Metallo C, Gimenez-Roqueplo AP, #Favier J and #Tennant DA. Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism. Nat Commun. 2016;6:8784.
  1. Castro-Vega L-J, Lepoutre-Lussey C, Gimenez-Roqueplo A-P and Favier J. Rethinking pheochromocytomas and paragangliomas from a genomic perspective. Oncogene 2016 Mar 3;35(9):1080-9. (IF 6.8) Invited Review.
  1. Loriot C, Domingues M, Berger A, Menara M, Ruel M, Morin A, Bemelmans AP, Larue L, Gimenez-Roqueplo AP and ©Favier J. Deciphering the molecular basis of invasiveness in Sdhb-deficient cells. Oncotarget, 2015, Oct 20;6(32):32955-65. (IF 5.2)
  1. Oudijk L, *van Nederveen F, *Badoual C, *Tissier F, * Tischler A.S, Smid M, Gaal J, Lepoutre-Lussey C, Gimenez-Roqueplo AP, Dinjens WNM, Korpershoek E, #de Krijger R and #Favier J. Vascular Pattern Analysis for the Prediction of Clinical Behaviour in Pheochromocytomas and Paragangliomas. PLoS ONE. 2015;10(3):e0121361. (IF 2.7)
  1. Favier J, Amar L, Gimenez-Roqueplo A-P. Paraganglioma and pheochromocytoma: from genetics to personalized medicine. Nature Rev Endocrinol. 2015; 11(2):101-111 (IF 20.2) Invited Review. « Highly Cited Paper »
  1. *Castro-Vega L-J *Letouzé E, *Burnichon N, Buffet A, Disderot P-H, Khalifa E, Loriot C, Elarouci N, Morin A, Ménara M, Lepoutre-Lussey C, Badoual C, Sibony M, Dousset B, Libé R, Zinzindohoue F, Plouin P-F, Bertherat J, Amar L, de Reyniès A, #Favier J and #Gimenez-Roqueplo A-P. Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. Nat Commun. 2015 ; 6:6044. (IF 12.4)
  1. *Letouzé E, *Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, Janin M, Menara M, Nguyen AT, Benit P, Buffet A, Marcaillou C, Bertherat J, Amar L, Rustin P, De Reyniès A, #Gimenez-Roqueplo AP and #Favier J.  SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell 2013 ; 23(6):739-52 (IF 22.8). « Highly Cited Paper »

 

  1. Menara M, Oudijk L, Badoual C, Bertherat J, Lepoutre-Lussey C, Amar L, Iturrioz X, Sibony M, Zinzindohoue F, de Krijger R, #Gimenez-Roqueplo AP and #Favier J. SDHD immunohistochemistry: A new tool to confirm SDHx mutations in pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2015 ;100(2):E287-E291. (IF 5.8)
  1. Favier J, Buffet A, Gimenez-Roqueplo AP. HIF2A Mutations in Paraganglioma with Polycythemia. N Engl J Med; 367(22):2161-2, 2012. (IF 79)
  1. *Burnichon N, *Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, #Favier J and #Gimenez-Roqueplo AP. Somatic NF1 Inactivation is a Frequent Event in Sporadic Pheochromocytoma. Hum Mol Genet. 2012; 21(26):5397-405. (IF 4.9)
  1. Loriot C, Burnichon N, Gadessaud N, Vescovo, L, Amar L, Libé R, Bertherat J, Plouin PF, Jeunemaitre X, #Gimenez-Roqueplo AP and #Favier J. Epithelial to mesenchymal transition is activated in malignant pheochromocytomas and paragangliomas caused by SDHB gene mutations. J Clin Endocrinol Metab. 2012; 97(6):E954-62. (IF 5.8)
  1. Favier J, Igaz P, Burnichon N, Amar L, Libé R, Badoual C, Tissier F, Bertherat J, Plouin PF, Jeunemaitre X, and Gimenez-Roqueplo AP. Rationale for anti-angiogenic therapy in pheochromocytoma and paraganglioma. Endocr Pathol. 2012; 23(1):34-42. (IF 2.5)

 

  1. *Castro-Vega LJ, *Buffet A, *de Cubas AA, Cascon, A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Curras-freixe M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Leton R, Gomez-Grana A, Pollard PJ, Rustin P, #Robledo M, #Favier J, #Gimenez-Roqueplo AP. FH mutations confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet. 2014 ; 23(9):2440-6. (IF 4.9)
  1. Burnichon N, Vescovo, L, Amar L, Libé R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Bertherat J, Plouin PF, Jeunemaitre X, #Favier J and #Gimenez-Roqueplo AP. Integrative Genomic Analysis Reveals Somatic Mutations in Pheochromocytoma and Paraganglioma. Hum Mol Genet 2011; 20(20):3974-85 (IF 4.9)
  1. *Korpershoek E, *Favier J, *Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, Oldenburg R, de Herder WW, Tissier F, Plouin PF, van Nederveen FH, #Dinjens WNM, #Gimenez-Roqueplo AP and # de Krijger RR. SDHA immunohistochemistry detects SDHA gene mutations in paragangliomas and pheochromocytomas. J Clin Endocrinol Metab 2011; 96(9):E1472-6. (IF: 5.8)

 

  1. Favier J, Brière JJ, Burnichon N, Riviere J, Vescovo L, Giscos-Douriez I, De Reynes A, Bertherat J, Badoual, C, Plouin PF, Jeunemaitre X, Rustin P and Gimenez-Roqueplo AP. The Warburg effect is genetically determined in inherited pheochromocytomas. PLoS ONE 2009 4(9) : e7094. (IF 2.8)
  1. *van Nederveen FH, *Gaal J, *Favier J, Korpershoek E, Oldenburg RA, de Bruyn EM, Sleddens HF, Derkx P, Rivière J, Dannenberg H, Petri BJ, Komminoth P, Pacak K, Hop WC, Pollard PJ, Mannelli M, Bayley JP, Perren A, Niemann S, Verhofstad AA, de Bruïne AP, Maher ER, Tissier F, Méatchi T, Badoual C, Bertherat J, Amar L, Alataki D, Van Marck E, Ferrau F, François J, de Herder WW, Peeters MP, van Linge A, Lenders JW, Gimenez-Roqueplo AP, de Krijger RR, Dinjens WN. An easy and low-cost routine immunohistochemical procedure for the detection of Paraganglioma and Pheochromocytoma patients with germline SDHB, C or D gene mutations. Lancet Oncol 2009 10(8): 764-71.  (IF 36) « Highly Cited Paper »
  1. Favier J. and Gimenez-Roqueplo AP. Pheochromocytoma : The (Pseudo)-hypoxic hypothesis. Best Practice & Research: Clinical Endocrinology & Metabolism. 2010; 24 :957-968. Invited review
  1. Favier J, Lapointe S, Maliba R and Sirois MG. HIF2a reduces growth but promotes angiogenesis in a mouse model of neuroblastoma. BMC Cancer 2007 ; 7:139. (IF 3.3)
  1. Favier J, Germain S, Emmerich J, Corvol P and Gasc JM. Critical overexpression of thrombospondin-1 in patients with chronic leg ischemia. J Pathol 2005 ; 207(3):358-66. (IF 6.9)
  1. Favier J, Plouin PF, Corvol P and Gasc JM. Angiogenesis and vascular status in pheochromocytomas: distinctive traits in malignant tumors. Am J Pathol 2002 ; 161(4) : 1235-46. (IF 4.1)
  1. Favier J, Kempf H, Corvol P and Gasc JM. Coexpression of Endothelial PAS protein 1 with essential angiogenic factors suggests its involvement in human vascular development. Dev Dyn 2001; 222(3): 377-388. (IF 2.5)

 

  1. Favier J, Kempf H, Corvol P and Gasc JM. Cloning and expression pattern of EPAS1 in the chicken embryo. Colocalization with tyrosine hydroxylase. FEBS Lett 1999 ; Nov 26;462(1-2):19-24. (IF 3)