Dr. Mathias Cavaillé is a geneticist at the CHU de Québec-Université Laval, Adjunct Physician Professor in the Department of Pediatrics at the Faculty of Medicine – Université Laval, and Clinician-Researcher at the CHU de Québec-Université Laval Research Center. He received his training in medical genetics during his residency (2012-2017), specializing in clinical and molecular oncogenetics (high-throughput sequencing: gene panels, exomes, genomes) at the Centre Jean Perrin (Clermont-Ferrand, France). Former Chief Clinical Assistant (2018-2020), his medical training was complemented by a scientific Ph.D. obtained in 2021 at the Université Clermont-Auvergne. He also served as a coordinator for whole-genome sequencing analyses.

 

Dr. Mathias Cavaillé has a particular interest in studying hereditary predisposition to cancer, integrating polygenism into the management of patients at risk of breast cancer, and discovering new predisposition genes.

 

Integration of polygenic risk score in the management of patients at risk of breast cancer: Monogenic hereditary predisposition accounts for 5 to 10% of breast cancers, resulting from a constitutional mutation in a single predisposition gene. It involves high-risk genes (BRCA1, BRCA2, PALB2, PTEN, CDH1, TP53), exposing affected women to a lifetime cumulative risk exceeding 40%, and genes with a more moderate risk (ATM, CHEK2, RAD51C, RAD51D), with a cumulative risk of approximately 10 to 20%. Currently, the management of these patients relies on their mutation status, more or less weighted by their personal and family history. However, other risk factors, including polygenism, modify the degree of risk for these patients. This research focuses on integrating these additional genetic data into the clinical management of women at risk of breast cancer in oncogenetics practice.

 

Description of the clinical-molecular oncogenetic profile of the Quebec population: The Quebec Molecular Diagnostic Network has implemented analyses using panels of genes for hereditary cancer predisposition in the province. This presents both a medical and scientific opportunity. This research aims to describe the clinical-molecular characteristics of patients undergoing oncogenetic management. This could lead to the definition of more adapted analysis criteria, allowing more effective selection of at-risk patients.

 

Identification of new hereditary cancer predisposition genes: In oncogenetics, most patients undergoing genetic analysis do not have an identified causal pathogenic variant, despite clinical criteria suggesting the presence of hereditary predisposition to cancer. This suggests the involvement of other genetic mechanisms in the occurrence of cancer in these patients. Whole-genome sequencing of patients and families with a severe phenotype, without identified causal mutations, combined with the integration of genomic tumor and transcriptomic data, should allow the identification of new cancer predisposition genes.


+1 418-525-4444, extension 46359
mathias.cavaille@crchudeq...

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Villy MC, Le Ven A, Le Mentec M, Masliah-Planchon J, Houy A, Bièche I, Vacher S, Vincent-Salomon A, Dubois d'Enghien C, Schwartz M, Piperno-Neumann S, Matet A, Malaise D, Bubien V, Lortholary A, Ait Omar A, Cavaillé M, Stoppa-Lyonnet D, Cassoux N, Stern MH, Rodrigues M, Golmard L, Colas C

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants

Journal Article

J Natl Cancer Inst, 116 (4), 2024.

Abstract | Links:

Chevalier B, Coppin L, Romanet P, Cuny T, Maïza JC, Abeillon J, Forestier J, Walter T, Gilly O, Le Bras M, Smati S, Nunes ML, Geslot A, Grunenwald S, Mouly C, Arnault G, Wagner K, Koumakis E, Cortet-Rudelli C, Merlen É, Jannin A, Espiard S, Morange I, Baudin É, Cavaille M, Tauveron I, Teissier MP, Borson-Chazot F, Mirebeau-Prunier D, Savagner F, Pasmant É, Giraud S, Vantyghem MC, Goudet P, Barlier A, Cardot-Bauters C, Odou MF

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review

Journal Article

J Clin Endocrinol Metab, 109 (7), 2024.

Abstract | Links:

Ouedraogo ZG, Ceruti F, Lepage M, Gay-Bellile M, Uhrhammer N, Ponelle-Chachuat F, Bidet Y, Privat M, Cavaillé M

Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer

Journal Article

Genes (Basel), 14 (11), 2023.

Abstract | Links:

Lepage M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Kossai M, Scanzi J, Ouedraogo ZG, Gay-Bellile M, Bidet Y, Cavaillé M

Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature

Journal Article

Genes (Basel), 14 (9), 2023.

Abstract | Links:

Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, 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 MA, 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 JM, Lortholary A, Luporsi É, Mari V, Maugard CM, 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 JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

Journal Article

Eur J Cancer, 179 , 2023.

Abstract | Links:

Cavaillé M, Crampon D, Achim V, Bubien V, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Ouedraogo ZG, Jones N, Bidet Y, Sevenet N, Bignon YJ

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature

Journal Article

BMC Med Genomics, 16 (1), 2023.

Abstract | Links:

Garrigues G, Batisse-Lignier M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Kelly A, Gay-Bellile M, Viala S, Bidet Y, Bignon YJ, Cavaillé M

Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature

Journal Article

Mol Genet Genomic Med, 11 (5), 2023.

Abstract | Links:

Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ

Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco

Journal Article

J Genomics, 9 , 2021.

Abstract | Links:

Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Viala S, Bidet Y, Bignon YJ

Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers

Journal Article

Clin Genet, 99 (1), 2021.

Abstract | Links:

Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Molnar I, Viala S, Bidet Y, Bignon YJ

Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition

Journal Article

Genes Chromosomes Cancer, 60 (2), 2021.

Abstract | Links:

16 entries « ‹ 1 of 2 › »
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