apgr 2019Anne-Paule GIMENEZ-ROQUEPLO, MD, PhD

Team 13- Genetics and metabolism of rare cancers

After a MD in Endocrinology and a PhD in Genetics, I started research group dedicated to the study of pheochromocytoma and paraganglioma (PPGL) in 2002, which was created as an independent research team “Pheochromocytomas and paragangliomas: from genetics to molecular targeted therapies” in the Paris-Cardiovascular Research Centre in 2014. The team demonstrated that the identification of a SDHB mutation is a risk factor of malignancy and of poor prognosis, identified new PPGL susceptibility genes, revealed the interplay between the tricarboxylic cycle, hypoxic-angiogenesis pathway, epigenomic changes and cancer, established experimental cellular models of SDHx deficient tumors, revealed new therapeutic targets and opened the way to personalized medicine in PPGL. Since 2019, I co-lead with Dr Judith Favier a new version of the team entitled “Genetics and Metabolism of Rare Cancers”.

Current position
  • 2019- : Team Leader, INSERM U970 Team 13- PARCC-HEGP
  • 2008- : Full Professor of Genetics, Faculty of Medicine, Paris Descartes University, Hospital practitioner, Genetics department, Hôpital européen Georges Pompidou, Assistance Publique Hôpitaux de Paris


  • 1995: MD, Paris 5 University
  • 1999: PhD, Paris 6 University
  • 2006: Accreditation to supervise research  (HDR), Paris Descartes University
  • 2016: Aptitude certificate in Hospital Management, Mines ParisTech

Post-graduate training

  • 1989-95: Resident in Medicine, Assistance Publique Hôpitaux de Paris
  • 1995-98: Post-doctoral Fellow, Collège de France, INSERM U36
  • 1998-99: Clinical Fellow in Endocrinology, Broussais Hospital
  • 1999-2002: Clinical Fellow in Genetics, HEGP

Academic positions

  • 2002-2007: Assistant Professor of Genetics, Paris Descartes University & Hôpital Européen Georges      Pompidou, Paris, France
  • 2002-2012: Investigator INSERM (Contrat d’interface INSERM pour hospitaliers) ‘Mitochondrial respiratory chain involvement in the genesis of pheochromocytomas and paragangliomas’
  • 2008-: Professor of Genetics, Paris Descartes University & Hôpital Européen Georges Pompidou, Paris, France
  • 2014-2018: Team leader ‘Pheochromocytomas and paragangliomas: from genetics to molecular  targeted therapies’, INSERM UMR970, Paris research center (PARCC

Participation to scientific committees

  • Chair of the Rare cancers working group (Cancéropôle Ile de France)
  • Past-chair of the Pheochromocytoma and Paraganglioma Research Support Organization (2009-11)
  • Treasurer and member of the executive committee of the European Network for the Study of Adrenal Tumors (ENSAT), past-chair of the Pheochromocytoma and paraganglioma ENSAT working group (2011-17)
  • Member of the healthcare provider center of EURACAN, European reference network for rare cancers
  • Member of the Endocrine Society (ENDO), Expert in Genetics for the ENDO Pheochromocytomas clinical practice guidelines Taskforce (2014)
  • Member of the European Society of Endocrinology, Expert in Genetics for the Pheochromocytomas follow-up guidelines (2015)
  • Member of the European Society of Hypertension; member of the HEGP Hypertension ESH Hypertension Excellence Center; expert in Genetics for The Lancet Commission on Hypertension (2016)
  • Chair of the French registry for SDH-related hereditary paraganglioma (PGL.R)
  • Chair of the COMETE network
  • Coordinator of the Research working group for the French excellence network for rare endocrine diseases (FIRENDO).
  • Member of the Pheochromocytoma/paraganglioma HEGP reference center, component of the National expert center for rare adrenal diseases
  • Member of steering committees of the French excellence network for adrenal cancers (COMETE-Cancer), for rare neuroendocrine tumors (RENATEN) and for familial renal cancers and von Hippel Lindau disease (PREDIR)
  • Member of the steering committee of the French group for endocrine tumors (GTE)
  • Member of different scientific societies in France: the French society of Human Genetics (Treasurer and member of the steering committee from 2011 to 2015); the French society of Endocrinology (member of the steering committee); the French Society of Hypertension; the National Association for molecular genetics practionners (ANPGM, member of the steering committee from 2011 to 2015 ); the French network of oncogenetics laboratories for rare endocrine tumors (TENGEN); the Genetics and Cancer group; the rare tumor committee of the French society of pediatric cancers and leukemias (expert in Genetics)



  • AAP Fondation ARC 2019 : Pathological role of misoriented cell division in the first phases of kidney cancer (PI: Mario Pende)
  • AO SHS-E-SP 2018 INCA : Prédispositions génétiques aux pathologies malignes de l’enfant et séquençage de nouvelle génération: questions éthiques, légales et psychologiques (PI : S de Montgolfier)
  • Ligue Nationale Contre le Cancer. Labellisation 2017. Equipe “Paragangliomes et phéochromocytomes: de la génétique aux thérapies ciblées” (PI : AP Gimenez-Roqueplo)
  • Cancéropôle Ile de France. EXORARE : mise en place d’une RCP moléculaire de recours pour les cancers rares (PI : AP Gimenez-Roqueplo)
  • AO Foncer contre le cancer 2018 : Evaluation de l’ADN tumoral circulant comme facteur prédictif de réponse au traitement dans le cancer du rein métastatique (PI : N Burnichon)
  • CARPEM : Caractérisation moléculaire de la collection de cancers du rein de l’HEGP (PI : N Burnichon)
  • DGOS/INCA (PRT-K 2014) : COMETE-TACTIC : COMETE network, towards an easy-to use adrenal cancer/tumor identity card (PI : Anne-Paule Gimenez-Roqueplo)
  • INSERM/Institut de Veille Sanitaire R : registre national du paragangliome héréditaire (PI : Anne-Paule Gimenez-Roqueplo)

Teaching activities in international conferences

  • Genetics in pheochromocytoma/paraganglioma. 4th expert meeting “Endocrine hypertension” (9-10 May 2019, Sofia, Bulgaria)
  • Enabling replicative immortality in pheochromocytoma and paraganglioma. 16th International workshop on multiple Endocrine Neoplasia- A focus on new concepts and treatment of malignant manifestations (27-29 March 2019, Houston, USA)
  • VHL in the genomic landscape of pheochromocytomas and paraganglioma. International VHL Medical/Research Symposium, (4-5 October 2018, Houston, USA)
  • Management of pheochromocytoma. ESE Summer school on Endocrinology 2018 (15-18 July, Berlin, Germany)
  • From old syndromes to novel genes: heredity and the value of genetic diagnosis in PPGL. XIII International Symposium GETNE (28-29 September 2017, Cordoba, Spain)
  • From integrative OMICS studies to Precision Medicine in PPGLs. 5th International Symposium on Phaechromocytoma and Paraganglioma (1st September 2017, Sydney, Australia)
  • Clinical implications of SDH mutations. 19th European Congress of Endocrinology (22 May 2017, Lisbon, Portugal)
  • Update in genetic screening. 20th French American Meeting in Endocrinology  (22 March 2017, Bobigny, France)
  • Meet the expert session: Pheochromocytoma. 17th International Congress of Endocrinology (3rd September 2016, Beijing, China)
  • Genetics of pheochromocytoma. 17th International Congress of Endocrinology (1st September 2016, Beijing, China)
  • From multi-omics analysis to precision medicine in paraganglioma and pheochromocytoma. JNI Oncology lecture series. Erasmus MC (22th June 2016, Rotterdam, The Netherlands)
  • The new genetics of phaeochromocytoma. Society for Endocrinology BES 2015 (2nd November 2015, Edinburgh, UK)
  • Familial paragangliomas: genetics and clinical relevance 12th Annual ENETS Conference for the diagnosis and treatment of neuroendocrine tumor disease (13th March 2015, Barcelona, Spain)


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



189 references PubMed, h index 50, 9 176 citations (July 2019)




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