Mathias Cavaillé

• Centre de recherche du CHU de Québec - Université Laval
• Centre de recherche sur le cancer

Financements des 2 dernières années

• Abdel Ganiyou Bebe Mouliom Mbouombouo, Maîtrise en médecine moléculaire - avec mémoire
• Louis Doucet, Maîtrise en médecine moléculaire - avec mémoire

Travaux de recherche 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. 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

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

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

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

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

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

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

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

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. 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

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

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