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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Muhammad AA, Basto C, Peterlini T, Guirouilh-Barbat J, Thomas M, Veaute X, Busso D, Lopez B, Mazon G, Le Cam E, Masson JY, Dupaigne P

Human RAD52 stimulates the RAD51-mediated homology search

Journal Article

Life Sci Alliance, 7 (3), 2024.

Abstract | Links:

de la Peña Avalos B, Paquet N, Tropée R, Coulombe Y, Palacios H, Leung JW, Masson JY, Duijf PHG, Dray E

The protein phosphatase EYA4 promotes homologous recombination (HR) through dephosphorylation of tyrosine 315 on RAD51

Journal Article

Nucleic Acids Res, 52 (3), 2024.

Abstract | Links:

Mätlik K, Baffuto M, Kus L, Deshmukh AL, Davis DA, Paul MR, Carroll TS, Caron MC, Masson JY, Pearson CE, Heintz N

Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum

Journal Article

Nat Genet, 2024.

Abstract | Links:

Hu C, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Journal Article

Cancer Res, 83 (15), 2023.

Abstract | Links:

Vekariya U, Toma M, Nieborowska-Skorska M, Le BV, Caron MC, Kukuyan AM, Sullivan-Reed K, Podszywalow-Bartnicka P, Chitrala KN, Atkins J, Drzewiecka M, Feng W, Chan J, Chatla S, Golovine K, Jelinek J, Sliwinski T, Ghosh J, Matlawska-Wasowska K, Chandramouly G, Nejati R, Wasik M, Sykes SM, Piwocka K, Hadzijusufovic E, Valent P, Pomerantz RT, Morton G, Childers W, Zhao H, Paietta EM, Levine RL, Tallman MS, Fernandez HF, Litzow MR, Gupta GP, Masson JY, Skorski T

DNA polymerase θ protects leukemia cells from metabolically induced DNA damage

Journal Article

Blood, 141 (19), 2023.

Abstract | Links:

Silveira MAD, Khadangi F, Mersaoui SY, Naik D, Masson JY, Bilodeau S

HSP70 mediates a crosstalk between the estrogen and the heat shock response pathways

Journal Article

J Biol Chem, 299 (2), 2023.

Abstract | Links:

Gao Y, Guitton-Sert L, Dessapt J, Coulombe Y, Rodrigue A, Milano L, Blondeau A, Larsen NB, Duxin JP, Hussein S, Fradet-Turcotte A, Masson JY

A CRISPR-Cas9 screen identifies EXO1 as a formaldehyde resistance gene

Journal Article

Nat Commun, 14 (1), 2023.

Abstract | Links:

Laspata N, Kaur P, Mersaoui SY, Muoio D, Liu ZS, Bannister MH, Nguyen HD, Curry C, Pascal JM, Poirier GG, Wang H, Masson JY, Fouquerel E

PARP1 associates with R-loops to promote their resolution and genome stability

Journal Article

Nucleic Acids Res, 51 (5), 2023.

Abstract | Links:

Cybulski C, Zamani N, Kluźniak W, Milano L, Wokołorczyk D, Stempa K, Rudnicka H, Zhang S, Zadeh M, Huzarski T, Jakubowska A, Dębniak T, Lener M, Szwiec M, Domagała P, Samani AA, Narod S, Gronwald J, Masson JY, Lubiński J, Akbari MR

Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank

Journal Article

Am J Hum Genet, 110 (4), 2023.

Abstract | Links:

Gall-Duncan T, Luo J, Jurkovic CM, Fischer LA, Fujita K, Deshmukh AL, Harding RJ, Tran S, Mehkary M, Li V, Leib DE, Chen R, Tanaka H, Mason AG, Lévesque D, Khan M, Razzaghi M, Prasolava T, Lanni S, Sato N, Caron MC, Panigrahi GB, Wang P, Lau R, Castel AL, Masson JY, Tippett L, Turner C, Spies M, La Spada AR, Campos EI, Curtis MA, Boisvert FM, Faull RLM, Davidson BL, Nakamori M, Okazawa H, Wold MS, Pearson CE

Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability

Journal Article

Cell, 186 (22), 2023.

Abstract | Links:

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Active projects

  • Canada Research Chair in DNA repair and Cancer Therapeutics, from 2020-07-01 to 2027-06-30
  • Decoding the DNA double-strand break repair pathways: from mechanistic insights to human genome instability diseases, from 2018-07-01 to 2025-06-30
  • Investigating the Role of RECQL in Breast Cancer Susceptibility, from 2017-04-01 to 2024-03-31
  • Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II), from 2017-11-01 to 2025-09-30
  • Poly(ADP-ribose) writers, readers, and erasers: Functions in DNA double-strand break repair and synthetic lethality, from 2019-10-01 to 2024-09-30
  • Réseau de recherche sur le cancer (RRCancer), from 2023-04-01 to 2026-03-31
  • Tumor biobanking was supported by the Banque de tissus et de données en cancers solides of the Réseau de recherche sur le cancer (RRCancer)...The RRCancer is funded by the Oncopole...de l'Économie, de l'Innovation et de l'Énergie du Québec., from 2023-04-01 to 2024-03-31

Recently finished projects

  • Bourse de soutien aux nouveaux détenteurs de Chaire de recherche du Canada, from 2020-07-01 to 2022-06-30
  • Characterization of HR-Killer1 and identification of small molecules for cancer therapy and enhanced gene editing using CRISPR/Cas9-based DNA repair strategies, from 2018-04-01 to 2023-03-31
  • Grand prix scientifique, from 2022-04-01 to 2023-03-31
  • Infrastructure for a Tier I CRC in DNA repair and cancer therapeutics, from 2020-07-01 to 2022-12-31
  • Patient stratification based on DNA repair functionality for cancer precision medicine, from 2020-01-01 to 2022-12-31
  • The contribution of RAD51C and RAD51D to breast and ovarian cancer, from 2021-05-01 to 2023-04-30
Data provided by the Université Laval research projects registery