Dr. Jean-Yves Masson is a researcher at the CHU of Quebec-Laval University Research Centre, Oncology axis, and Full Professor in the Department of Molecular Biology, Medical Biochemistry and Pathology at Laval University’s School of Medicine. He joined the CHU of Quebec following a postdoctoral fellowship in the laboratory of Stephen West a world specialist in DNA double-strand break repair by homologous recombination. Since then, he has received numerous awards, including the prestigious title of FRQS National Researcher award, and has published over 125 articles in leading scientific journals, including Nature, Nature Communications, and Molecular Cell. He is holding a FRQS Research Chair until June 2020. In parallel with his research activities, Dr. Masson was acting as fundamental research representative on the planning and coordination committee of the Cancer Research Centre/Oncology Axis in 2011 and was member of the executive committee of the Oncology axis in 2012. He also served as Director of the Department of Molecular Biology, Medical Biochemistry and Pathology from 2013 to 2017.
Dr. Masson’s team is interested in the DNA repair mechanisms that govern the maintenance of the integrity of our genome, in particular homologous recombination (HR), and related therapeutic avenues. The fundamental part of his work is mainly directed towards the in vitro reconstitution of key HR steps (resection by MRN-RPA-BLM-DNA2-EXO1 complexes and strand invasion with BRCA1-BRCA2-PALB2). Furthermore, his lab is heavily involved in the functional characterization of DNA repair genes using proven biochemical assays and innovative molecular and cellular techniques (BioID, molecular DNA combing, CRISPR-Cas9 system). With his collaborators, he discovered a negative regulation mechanism of the DNA resection step by DYNLL1. Several of the genes studied, including BRCA1, BRCA2 and PALB2, are mutated in breast and ovarian cancer and/or Fanconi anemia, a rare genetic disease characterized by a wide variety of congenital malformations and a risk of acute leukemia and cancer. The laboratory performs a precise characterization of DNA double-strand break repair genes, which is critical for understanding the etiology of these diseases. With a more translational focus, the second part of the research involves developing new synthetic lethal strategies based on the function of certain DNA repair enzymes in collaboration with Dr. Guy Poirier’s team. Its primary objective is to selectively kill breast and ovarian cancer cells using small inhibitory molecules identified by screening chemical libraries. Although PARP inhibitors have demonstrated clinical benefit in patients with germline mutation in BRCA1/2, the emergence of resistance to this type of agent highlights the importance of identifying new combinations of inhibitors. The experiments are performed on 2- and 3-dimensional (spheroids) tumor cell models and mouse models of Fanconi anemia.
Recently, Dr. Masson’s discoveries have led him to join several cancer multi-institutional teams. Among others, he is participating with Dr. Jacques Simard in the PERSPECTIVE I&I (Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation) project, an initiative funded by Genome Canada bringing together the expertise of more than 20 researchers, including several world-renowned fundamentalists, clinicians, and biostatisticians. Within this interdisciplinary group, Dr. Masson’s team is dedicated to developing systematic functional tests to reliably assess the impact of genetic variations linked to breast cancer, especially those affecting PALB2, and determine their clinical relevance for the benefit of patients. The data collected will improve the personalized risk assessment for early detection and more appropriate treatment of breast cancer. In collaboration with the CRCHUM, Dr. Masson also acts as one of the principal investigators of the ONCOPOLE project entitled “Targeting genomic instability as an essential vulnerability of ovarian cancer”, which aims to identify the best therapeutic combinations for eliminating ovarian cancer cells.

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Yu Z, Mersaoui SY, Guitton-Sert L, Coulombe Y, Song J, Masson JY, Richard S

DDX5 resolves R-loops at DNA double-strand breaks to promote DNA repair and avoid chromosomal deletions.

Journal Article

NAR Cancer, 2 (3), pp. zcaa028, 2020, ISSN: 2632-8674.

Abstract | Links:

Monteiro AN, Bouwman P, Kousholt AN, Eccles DM, Millot GA, Masson JY, Schmidt MK, Sharan SK, Scully R, Wiesmuller L, Couch F, Vreeswijk MPG

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.

Journal Article

J Med Genet, 57 (8), pp. 509-518, 2020, ISSN: 0022-2593.

| Links:

Boycott KM, Campeau PM, Howley HE, Pavlidis P, Rogic S, Oriel C, Berman JN, Hamilton RM, Hicks GG, Lipshitz HD, Masson JY, Shoubridge EA, Junker A, Leroux MR, McMaster CR, Michaud JL, Turvey SE, Dyment D, Innes AM, van Karnebeek CD, Lehman A, Cohn RD, MacDonald IM, Rachubinski RA, Frosk P, Vandersteen A, Wozniak RW, Pena IA, Wen XY, Lacaze-Masmonteil T, Rankin C, Hieter P

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.

Journal Article

Am J Hum Genet, 106 (2), pp. 143-152, 2020, ISSN: 0002-9297.

Abstract | Links:

Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ

Functional characterization of 84 PALB2 variants of uncertain significance.

Journal Article

Genet Med, 22 (3), pp. 622-632, 2020, ISSN: 1098-3600.

Abstract | Links:

Toh MR, Low CE, Chong ST, Chan SH, Ishak NDB, Courtney E, Kolinjivadi AM, Rodrigue A, Masson JY, Ngeow J

Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer.

Journal Article

Fam Cancer, 19 (2), pp. 123-131, 2020, ISSN: 1389-9600.

Abstract | Links:

Nakamori M, Panigrahi GB, Lanni S, Gall-Duncan T, Hayakawa H, Tanaka H, Luo J, Otabe T, Li J, Sakata A, Caron MC, Joshi N, Prasolava T, Chiang K, Masson JY, Wold MS, Wang X, Lee MYWT, Huddleston J, Munson KM, Davidson S, Layeghifard M, Edward LM, Gallon R, Santibanez-Koref M, Murata A, Takahashi MP, Eichler EE, Shlien A, Nakatani K, Mochizuki H, Pearson CE

A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo.

Journal Article

Nat Genet, 52 (2), pp. 146-159, 2020, ISSN: 1061-4036.

Abstract | Links:

Velic D, Charlier C, Popova M, Jaunet-Lahary T, Bouchouireb Z, Henry S, Weigel P, Masson JY, Laurent A, Nabiev I, Fleury F

Interactions of the Rad51 inhibitor DIDS with human and bovine serum albumins: Optical spectroscopy and isothermal calorimetry approaches.

Journal Article

Biochimie, 167 , pp. 187-197, 2019, ISSN: 0300-9084.

Abstract | Links:

Boonen RACM, Rodrigue A, Stoepker C, Wiegant WW, Vroling B, Sharma M, Rother MB, Celosse N, Vreeswijk MPG, Couch F, Simard J, Devilee P, Masson JY, van Attikum H

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Journal Article

Nat Commun, 10 (1), pp. 5296, 2019, ISSN: 2041-1723.

Abstract | Links:

Batenburg NL, Walker JR, Coulombe Y, Sherker A, Masson JY, Zhu XD

CSB interacts with BRCA1 in late S/G2 to promote MRN- and CtIP-mediated DNA end resection.

Journal Article

Nucleic Acids Res, 47 (20), pp. 10678-10692, 2019, ISSN: 0305-1048.

Abstract | Links:

Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa E Silva Carvalho S, Milano L, Ducy M, De-Gregoriis G, Dellaire G, Araujo da Silva W Jr, Monteiro AN, Carvalho MA, Simard J, Masson JY

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Journal Article

Nucleic Acids Res, 47 (20), pp. 10662-10677, 2019, ISSN: 0305-1048.

Abstract | Links:

102 entries « 1 of 11 »
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Active projects

  • Canada Research Chair in DNA repair and Cancer Therapeutics, Subvention, Secrétariat des programmes interorganismes à l’intention des établissements, Chaires de recherche du Canada - Fonctionnement, from 2020-07-01 to 2027-06-30
  • Centre de recherche du CHU de Québec - Université Laval, Subvention, Centre hospitalier universitaire de Québec - Université Laval, Centres de recherche affiliés, from 2017-01-01 to 2099-12-31
  • Centre de recherche sur le cancer, Subvention, Institutionnel - BDR, BDR - Centres de recherche reconnus, from 1996-05-01 to 2022-06-13
  • Characterization of HR-Killer1 and identification of small molecules for cancer therapy and enhanced gene editing using CRISPR/Cas9-based DNA repair strategies, Subvention, Instituts de recherche en santé du Canada, Subvention Projet, from 2018-04-01 to 2023-03-31
  • Cibler l’instabilité génomique en tant que vulnérabilité essentielle du cancer de l’ovaire, Subvention, Fonds de recherche du Québec - Santé, ONCOPOLE EMC2: Équipes multi-institutionnelles contre le cancer, from 2018-05-01 to 2021-04-30
  • Decoding the DNA double-strand break repair pathways: from mechanistic insights to human genome instability diseases, Subvention, Instituts de recherche en santé du Canada, Subventions Fondation, from 2018-07-01 to 2025-06-30
  • Investigating the Role of RECQL in Breast Cancer Susceptibility, Subvention, Instituts de recherche en santé du Canada, Subvention Projet, from 2017-04-01 to 2022-03-31
  • Patient stratification based on DNA repair functionality for cancer precision medicine, Subvention, Instituts de recherche en santé du Canada, Subvention d'équipe: ERA-Net PerMed, from 2020-01-01 to 2022-12-31
  • Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II), Subvention, Génome Canada, Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project, from 2017-11-01 to 2022-03-31
  • Poly(ADP-ribose) writers, readers, and erasers: Functions in DNA double-strand break repair and synthetic lethality, Subvention, Instituts de recherche en santé du Canada, Subvention Projet, from 2019-10-01 to 2024-09-30

Recently finished projects

  • (FRSQ 91313) Acquisition d'un microscope pour le CRCEO, Subvention, Fondation du CHU de Québec, from 2019-05-30 to 2020-03-31
  • Mechanistic insights into meiotic DNA double-strand break formation by Spo11: impact on genetic recombination and aneuploidy., Subvention, Conseil de recherches en sciences naturelles et génie Canada, Subventions à la découverte SD (individuelles et d'équipe), from 2015-04-01 to 2020-03-31
  • Rôles des protéines de réparation des cassures double-brin dans la stabilité du génome, l'anémie de Fanconi, et le cancer., Subvention, Fonds de recherche du Québec - Santé, Chaires de recherche FRQS, from 2016-07-01 to 2020-06-30
  • Stratégies exploitant les voies de signalisation et réparation de l'ADN pour la médecine personnalisée et le cancer, Subvention, Fonds de recherche du Québec - Santé, Recherches sur la cancer (NSFC-FRQ-S), from 2017-01-01 to 2019-12-31
Data provided by the Université Laval research projects registery