Program 8 : Oncogenetics

Program 8 : Oncogenetics


Dr Paul VILQUIN, is a hospital practitioner biologist in Saint-Louis hospital specialized in oncogenetics. After completing pharmacy school in Caen, he has performed a five years pharmacy residency in the Lyon Cancer Research Centre (UMR Inserm 1052/CNRS 5286). After graduated his PhD in 2013, he joined the Montpellier University Hospital, as an University-Hospital Assistant and was trained during 5 years on constitutional oncogenetics of the breast/ovarian cancer. His main research topics are focused on molecular characterization of resistance to anticancer therapies. In 2019, he had the opportunity to set up an oncogenetic activity dedicated to solid tumours in Saint Louis hospital, Paris.

Dr. Odile COHENHAGUENAUER, MD PhD is assistant professor at Université Paris Cité and chairs the national expert centre of Oncogenetics at Saint-Louis Hospiral. She is an internationally known specialist of genetic predisposition mutations to breast and ovary cancer, especially BRCA1/2. She has identified and followed hundreds families of breast and ovary cancers, with genetic counselling and follow-up. She has set up  a fast-track BRCA pathway at Saint-Louis, also including patients with prostate cancer and BRCA alterations. She recently extended her activities to genetic predisposition to colorectal and pancreatic cancers, in close collaboration with the Bichat-Beaujon teams, and to melanoma with Saint-Louis and Bichat teams. She is involved in the research activities of the INSERM UMR-S 976 (IRSL_HIPI) laboratory, in the team “Physiopathology of breast cancers” headed by Prof. J Lehmann-Che.

Dr Gaël GOUJON, is a hospital practitioner, hepato-gastroenterologist and digestive oncologist. He is in charge of the Digestive Oncology multidisciplinary board at the Bichat Hospital, and since 2021, of the Colorectal cancer and Tumors of the digestive tract  multidisciplinary board, at Bichat and Beaujon hospitals. He holds a Master of Science degree in pharmacology on therapeutic antibodies in digestive oncology and contributes to clinical research, especially in colorectal and anal cancer. In 2020, he obtained the inter-university diploma of oncogenetics of Curie Institute. He is currently developing the associate center of digestive oncogenetics center at Bichat hospital, in association with the oncogenetics unit of Saint Louis hospital, headed by Dr Odile Cohen Haguenauer. The recruitment consists of Lynch syndrome, familial digestive polyposis and hereditary diffuse gastric cancer patients. Both teams from Saint-Louis and Bichat collaborate on these topics for clinical and translational research commune projects. Dr Gaël Goujon is also working within the PRED-IdF network and belongs to the digestive oncogenetics committee of Île-De-France.

P8 - Oncogenetics

First time counseling consultations : 1,000/ year (including 500 breast K, 120 melanomas, 100 digestive K)

  • Family predisposition to breast and ovarian cancers : 700 new families on average/year
  • Family predisposition to melanoma: 120-150 new families/year
  • Family predisposition to pancreatic cancer: 120-150 new families/year
  • Family predisposition to digestive cancers: colorectal cancers, multiple polyposis, stomach: 50 new families/year. There are many more patients benefitting from tumour-based orientation criteria: MSI and MMR immuno-histochemistry
  • 150 into the “Fast-track BRCA pathway”: (Breast/Ovary/prostate)

Prevalent patients:

  • 800 consultations for negative results
  • 100 consultations for positive results
  • 100 follow-up consultations


Cancer Care

I.Solid tumour oncogenetics

The UF-OG Unit is the national reference expert center in oncogenetics for all sites of the Cancer Institute AP-HP. Nord; it is located in Saint-Louis Hospital. Our comprehensive center and its local laboratory partner for tumor genomics, the oncogenetics unit led by Pr. Mourah, are both affiliated to the national French Group “Groupe Génétique et cancer” (GGC). In addition to the main site, there are currently two “associated centers”: one at Beaujon Hospital, specializing in pancreatology, and the other at Bichat Hospital, specializing in digestive oncology; both operate under the UF-OG geneticist’s delegation of responsibilities. Patients are referred to our center according to regional, national, and international guidelines. The Unit is fully computerized using MediFirst-Genetics software and online solution with a fully secured access. The UF-OG is in charge of multidisciplinary tumor boards (MTB) in oncogenetics. There are currently two main paths for patients to engage into an oncogenetics process (see below flowchart as Figure #1):

  1. Either a known family history of cancers, a fortiori with cases over several generations;
  2. Or, following somatic genomic analysis of a tumor, the identification of a genetic variant likely to qualify as germline with allele frequency close to or above 50% (Mandelker et al., 2019).

Regardless of the initial access mode, patients are referred to genetic counselling, and a pedigree must be drawn in order to further investigate the eventuality of a hereditary germline pathogenic variant along with associated tumor risks. The geneticist and/or the genetic counsellor (see recent update of the Bioethics law in France) gather(s) family members’ medical files. Germline genetic testing is offered according to the French NCI (INCa) recommendations for testing, provided that the patient has fully understood the information note and signed the informed consent. Beyond the above-mentioned inherited genetic cancer predisposition syndromes, our activity also extends to family predisposition to prostate cancer and endocrine tumors (MEN). At Beaujon Hospital, Dr. Louis de Mestier is in charge of the oncogenetics consultation for neuroendocrine malignancies (30 new patients/year) and familial pancreatic cancers (105 BRCA families identified and followed up).

II.Haemonc oncogenetics

As of 2021, a novel administrative unit (Unité de gestion UG694) has been set up as part of the hematology department. Dr. Marie Sébert is in charge of the clinical side, which specializes in the diagnosis of inherited predisposition to malignant myeloid hemopathies, and works in tight collaboration with the Laboratory of hematology led by Pr. Jean Soulier and Pr. Emmanuelle Clappier, in charge of myeloid tumor screening within the national program “France Médecine Génomique” (PMFG 2025).

It is intended for patients with family predisposition to myeloid hemopathies (4 new patients/month, 50/year), including the following:

  • Acute myeloid leukemias (AML)
  • Bone marrow failures
  • Myelodysplastic syndromes (MDS)
  • Myeloproliferative syndromes (MPS)

III. Rare disorders with potential involvement in oncogenetics

    • Telomeropathies and Gorlin syndrome (60 new patients/year), with biological analysis at the national reference laboratory (LBMR) constitutional oncogenetic biology unit, as part of the genetic department at Bichat Hospital.
    • This laboratory is part of the national network “Groupe Génétique et Cancer (GGC)”. The unit works in collaboration with the “FIMARAD-Filière Santé Maladies Rares Dermatologiques” and with the PREDIR center for renal cancers. Most of the diagnosed cases are referred from university hospitals, regional hospitals, and cancer centers from all over France. The unit is involved in the multidisciplinary PFMG pre-indication setting: “Maladies rares oncogénétiques Cancers avec antécédents familiaux particulièrement sévères”.


PHRC-K clinical research program: PALB2-PARPi: “Phase II clinical trial aiming at investigating the effect of a PARP-inhibitor on advanced metastatic breast cancer in germline PALB2 mutations carriers

IHU Thema

Basic science:

  • SAINT-LOUIS_Solid tumors
    • INSERM UMR-S 976 (IRSL_HIPI), UFOG, Dr. Odile Cohen-Haguenauer, Team Physiopathology of breast cancers (J. Lehmann-Che)
    • INSERM U1160 (IRSL), Team Inflammation and digestive cancers (M. Allez – T. Aparicio)
    • INSERM UMR-S 976 (IRSL*_HIPI), Team Onco-Dermatology & Therapy (A. Marie-Cardine); Group: Innovative Therapeutic Targets in Oncology (S. Mourah)
  • SAINT-LOUIS Hematologic malignancies
    • INSERM U944 (IRSL) “Genomes, Cell biology and Therapeutics” (J. Soulier)
  • BICHAT/BEAUJON_ Solid tumors
    • INSERM – U1149-Team 9: From inflammation to cancer in digestive diseases (V. Paradis – A. Couvineau)
    • INSERM – U1152-Team 2: Lung inflammation and fibrogenesis (B. Crestani): genetic fibrosis and lung cancer
    • INSERM U830: Genetics and biology of cancers – Centre de Recherche- Institut Curie
    • INSERM UMR-S 1148, Laboratory of Vascular Translational Science, Bichat (D. Letourneur) GG
    • INSERM IAME UMR 1137 (Dr. F. Brunet-Possenti) team DeSCID Research: Cutaneous HPV infection
  • ROBERT-DEBRE_Hematologic malignancies
    • INSERM UMR_S1131 IRSL: Normal and pathological hematopoiesis: Emergence, Environment and Research (S Giraudier)


  • Master in genetic counseling; coordinator: Dr. Odile Cohen-Haguenauer

  • Inter-university diploma (DIU) in oncogenetics (R. Benamouzig, O. Cohen-Haguenauer, C. Colas and D. Stoppa-Lyonnet)
  • Medicine faculty of the Université Paris-Cité (DFGSM3)

Genetics course: Oncogenetics, Dr. Odile Cohen-Haguenauer

  • Pharmacology teaching (E. Jacqz-Aigrain, S. Mourah and P. Boutouyrie); Université de Paris
  • Initiation course to research (Parcours d’initiation à la recherche PIR); Université de Paris (H. Cavé, J. le Goff and F. Pagès)

Clinical and general pharmacology (E. Jacqz-Aigrain)

Semester 4: Pharmacology in oncology and hematology (S. Mourah and F. Jouenne)

Genomics (J. Lehmann-Che)

Genetics (H. Cavé – E. Pasmant)

Genetics, from gene to drug (H. Cavé – E. Pasmant)

Genetics and cancer (Y. Vial – F. Bourdeaut)

  • Master 1 European Master in Genetics
  • Master 2 European Master in Genetics

Module Biotherapy (O. Cohen-Haguenauer – F. Griscelli)

Module Somatic genetics of cancers (R. Itzykson – J. Soulier)

Module Cellular biology of cancers (V. Lallemand – H. de Thé)

  • Master 2 Molecular and cellular biology (BMC)
  • Hemato-oncology and Biotherapies doctoral school (HOB) (R. Itzykson)