Répertoire du corps professoral

Intégration du score de risque polygénique dans la prise en charge des patientes à risque génétique ou familial de cancer du sein
Programme: Excellence en recherche - Projets d'envergure
Organisme(s) subventionnaire(s): Fondation du CHU de Québec
Type de financement: Subvention
Établissement tête: Université Laval
Du 1 mars 2025 au 31 mars 2027

Intégration du score de risque polygénique dans la prise en charge des femmes à risque génétique modéré ou familial de cancer du sein
Programme: Programme d’intégration de la génomique
Organisme(s) subventionnaire(s): Génome Québec
Type de financement: Subvention
Établissement tête: Université Laval
Du 1 janvier 2025 au 30 janvier 2027

Caractérisation de nouveaux gènes de susceptibilité au cancer du sein
Programme: Programme de soutien aux organismes de recherche et d’innovation (PSO) - International
Organisme(s) subventionnaire(s): Ministère de l'Économie et de l'Innovation et de l'énergie, Fondation du CHU de Québec
Type de financement: Subvention
Établissement tête: Université Laval
Du 15 février 2024 au 31 mars 2027

Optimisation de l'interprétation des données génomiques et le rendu clinique dans le réseau de la santé québécois grâce à une automatisation supervisée
Programme: Subvention de recherche
Organisme(s) subventionnaire(s): Ministère de la Santé et des Services sociaux
Type de financement: Subvention
Établissement tête: Université de Sherbrooke
Du 1 février 2024 au 31 mars 2026

Fonds de démarrage - Nouveau chercheur
Programme: Fonds de démarrage
Organisme(s) subventionnaire(s): Fondation du CHU de Québec, CHU de Québec – Université Laval – CHUL
Type de financement: Subvention
Établissement tête: Université Laval
Du 18 septembre 2023 au 31 mars 2026

Financements des 2 dernières années

Bourse de recherche Pierre-Déry
Organisme(s) subventionnaire(s): Fondation de l'Université Laval
Type de financement: Subvention
Établissement tête: Université Laval
Du 17 octobre 2024 au 16 octobre 2025

Louis Doucet, Maîtrise en médecine moléculaire - avec mémoire

Publications des 5 dernières années

Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes Cancers, 2025/03. Maximiliano Ribeiro-Guerra, Marie-Gabrielle Dondon, Séverine Eon-Marchais, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Muriel Belotti, Eve Cavaciuti, Claude Adenis-Lavignasse, Séverine Audebert-Bellanger, Pascaline Berthet, Valérie Bonadona, Bruno Buecher, Olivier Caron, Mathias Cavaille, Jean Chiesa, Chrystelle Colas, Isabelle Coupier, Capucine Delnatte, Hélène Dreyfus, Anne Fajac, Sandra Fert-Ferrer, Jean-Pierre Fricker, Marion Gauthier-Villars, Paul Gesta, Sophie Giraud, Laurence Gladieff, Christine Lasset, Sophie Lejeune-Dumoulin, Jean-Marc Limacher, Michel Longy, Alain Lortholary, Elisabeth Luporsi, Christine M. Maugard, Isabelle Mortemousque, Sophie Nambot, Catherine Noguès, Pascal Pujol, Laurence Venat-Bouvet, Florent Soubrier, Julie Tinat, Anne Tardivon, Fabienne Lesueur, Dominique Stoppa-Lyonnet, Nadine Andrieu. DOI 10.3390/cancers17071062

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation MOLECULAR GENETICS & GENOMIC MEDICINE, 2025. DOI 10.1002/MGG3.70086

Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial FRONTIERS IN ONCOLOGY, 2025. DOI 10.3389/FONC.2025.1538924

Identification of a germline deep intronic <i>PTEN</i>-deletion leading to exonization through whole genome and targeted RNA sequencing FAMILIAL CANCER, 2025. DOI 10.1007/S10689-025-00445-Z

Identification of BCL2L11 as a Candidate Gene for Hereditary Predisposition to Non-Medullary Thyroid Cancer Using Familial Whole-Exome-Sequencing CLINICAL GENETICS, 2025. DOI 10.1111/CGE.70060

<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France. The Lancet regional health. Europe, 2025/01. PFMG2025 contributors. DOI 10.1016/j.lanepe.2024.101183

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis HUMAN MUTATION, 2024. DOI 10.1155/2024/4830045

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2024. DOI 10.1093/JNCI/DJAD248

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2024. DOI 10.1210/CLINEM/DGAE055

Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer Genes, 2023/10. Ouedraogo Z, Ceruti F, Lepage M, Gay-Bellile M, Uhrhammer N, Ponelle-Chachuat F, Bidet Y, Privat M, Cavaillé M.

Rare duplication of the <i>CDC73</i> gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature MOLECULAR GENETICS & GENOMIC MEDICINE, 2023. DOI 10.1002/MGG3.2133

Diagnosis of <i>PTEN</i> mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature BMC MEDICAL GENOMICS, 2023. DOI 10.1186/S12920-023-01600-0

Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer GENES, 2023. DOI 10.3390/GENES14111991

Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature GENES, 2023. DOI 10.3390/GENES14091677

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease EUROPEAN JOURNAL OF CANCER, 2023. DOI 10.1016/J.EJCA.2022.11.007

Proposal of new candidate genes of predisposition to serous ovarian cancer using whole-exome-sequencing of 16 patients with a familial form EUROPEAN JOURNAL OF HUMAN GENETICS, 2022.

Association and Performance of Polygenic Risk Scores for Breast Cancer Among French Women Presenting or Not a Familial Predisposition to the Disease SSRN, 2022. Jiao, Y., Truong, T., Eon-Marchais, S., Mebirouk, N., Caputo, S.M., Dondon, M.-G., Karimi, M., Le Gal, D., Beauvallet, J., Le Floch, É., Dandine-Roulland, C., Bacq-Daian, D., Olaso, R., Albuisson, J., Audebert-Bellanger, S., Berthet, P., Bonadona, V., Buecher, B., Caron, O., Cavaillé, M., Chiesa, J., Colas, C., Collonge-Rame, M.-A., Coupier, I., Delnatte, C., De Pauw, A., Dreyfus, H., Fert-Ferrer, S., Gauthier-Villars, M., Gesta, P., Giraud, S., Gladieff, L., Golmard, L., Lasset, C., Lejeune-Dumoulin, S., Léoné, M., Limacher, J.-M., Lortholary, A., Luporsi, É., Mari, V., Maugard, C.M., Mortemousque, I., Mouret-Fourme, E., Nambot, S., Noguès, C., Popovici, C., Prieur, F., Pujol, P., Sevenet, N., Sobol, H., Toulas, C., Uhrhammer, N., Vaur, D., Venat, L., Boland-Augé, A., Guénel, P., Deleuze, J.-F., Stoppa-Lyonnet, D., Andrieu, N., Lesueur, F..

Proposal of new candidate genes of predisposition to serous ovarian cancer using whole-exome-sequencing of 16 patients with a familial form 2021/08/28. Mathias Cavaillé, Maud Privat, Lorenzo Menicucci, Flora Ponelle, Nicolas Sonnier, Sandrine Viala, Nancy Uhrhammer, Yannick Bidet, Yves-Jean Bignon.

XENOBREAST Trial: A prospective study of xenografts establishment from surgical specimens of patients with triple negative or luminal b breast cancer F1000Research, 2021. Veyssière, H., Passildas, J., Ginzac, A., Lusho, S., Bidet, Y., Molnar, I., Bernadach, M., Cavaille, M., Radosevic-Robin, N., Durando, X.. DOI 10.12688/f1000research.26873.3

Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco International journal of genomics, 2021. Abdelilah Laraqui, Mathias Cavaillé, Nancy Uhrhammer, Oubaida Elbiad, Yannick Bidet, Hicham El Rhaffouli, Hicham El Anaz, Driss Moussaoui Rahali, Jaouad Kouach, Khaled Guelzim, Bouabid Badaoui, Abderrahman Albouzidi, Mohammed Oukabli, Rachid Tanz, Yasser Sbitti, Mohammed Ichou, Khaled Ennibi, Yassine Sekhsokh, Yves-Jean Bignon. DOI 10.7150/jgen.61713

Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers CLINICAL GENETICS, 2021. DOI 10.1111/CGE.13864

Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition GENES CHROMOSOMES & CANCER, 2021. DOI 10.1002/GCC.22911

XENOBREAST Trial: A prospective study of xenografts establishment from surgical specimens of patients with triple negative or luminal b breast cancer F1000Research, 2020. Hugo Veyssière, Judith Passildas, Angeline Ginzac, Sejdi Lusho, Yannick Bidet, Ioana Molnar, Maureen Bernadach, Mathias Cavaille, Nina Radosevic-Robin, Xavier Durando. DOI 10.12688/f1000research.26873.1 DOI 10.12688/f1000research.26873.1

PERCEPTION Trial protocol Comparison of predictive and prognostic capacities of neutrophil, lymphocyte, and platelet counts and tumor-infiltrating lymphocytes in triple negative breast cancer MEDICINE, 2020. DOI 10.1097/MD.0000000000023418

Is <i>BRCA2</i> involved in early onset colorectal cancer risk? CLINICAL GENETICS, 2020. DOI 10.1111/CGE.13679