Répertoire du corps professoral

O. Harold Warwick Prize
Programme: Prix d'excellence en recherche sur le cancer
Organisme(s) subventionnaire(s): Société canadienne du cancer
Type de financement: Subvention
Établissement tête: Université Laval
Du 15 juin 2024 au 31 mars 2025

Characterization of novel breast cancer susceptibility genes through large-scale targeted sequencing and functional assays.
Programme: Subvention Projet
Organisme(s) subventionnaire(s): Instituts de recherche en santé du Canada
Type de financement: Subvention
Établissement tête: Université Laval
Du 1 avril 2024 au 31 mars 2029

Grand Prix Scientifique 2024 de la Fondation du cancer du sein du Québec
Programme: Prix d'excellence - Grand prix scientifique
Organisme(s) subventionnaire(s): Fondation du cancer du sein du Québec
Type de financement: Subvention
Établissement tête: Université Laval
Du 31 mars 2024 au 31 mars 2025

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

Observatoire international sur les impacts sociétaux de l'intelligence artificielle et du numérique
Programme: Appel à propositions : création d’un Observatoire international sur les impacts sociétaux de l’intelligence artificielle et du numérique
Organisme(s) subventionnaire(s): Fonds de recherche du Québec - Société et culture, Université Laval - Fonds internes
Type de financement: Subvention
Établissement tête: Université Laval
Du 1 avril 2018 au 31 mars 2025

Personalized Risk Assesment for Prevention and Early Detection of Breast Cancer : Integration and Implementation (PERSPECTIVE II)
Programme: Projets de recherche appliquée à grande échelle - Large-Scale Applied Research Project
Organisme(s) subventionnaire(s): Regroupement de compagnies et corporations canadiennes, Fondation du CHU de Québec, Génome Québec, Ministère de la santé (Ontario), Ministère de l'Économie, de la Science et de l'Innovation, Instituts de recherche en santé du Canada, Fondation du cancer du sein du Québec, Génome Canada
Type de financement: Subvention
Établissement tête: Université Laval
Du 1 novembre 2017 au 30 septembre 2025

Financements des 2 dernières années

Journées de la recherche de la Faculté de médecine et des centres de recherche
Programme: BDR - Contributions
Organisme(s) subventionnaire(s): Université Laval - Fonds internes
Type de financement: Subvention
Établissement tête: Université Laval
Du 17 avril 2023 au 30 avril 2024

The contribution of RAD51C and RAD51D to breast and ovarian cancer
Programme: Subvention de recherche
Organisme(s) subventionnaire(s): National Institute of Health (USA)
Type de financement: Subvention
Établissement tête: Mayo Clinic Rochester
Du 1 mai 2021 au 30 avril 2023

Quand innovations technologique et organisationnelle vont de pair: Un modèle collaboratif pour rendre l'oncogénétique plus agile, accessible et efficiente
Programme: Innove-Onco : Optimiser l'intégration de l'innovation en oncologie
Organisme(s) subventionnaire(s): Fonds de recherche du Québec - Santé
Type de financement: Subvention
Établissement tête: Université Laval
Du 1 avril 2020 au 27 octobre 2023

Encadrements terminés dans les 5 dernières années

Jolyane Blouin-Bougie, Doctorat en sciences de l'administration - management

Publications des 5 dernières années

Evaluating the performance of the BOADICEA model in predicting 10-year breast cancer risks in UK Biobank 2024/12/11. Xin Yang, Carmen Petitjean, Naomi Wilcox, Lorenzo Ficorella, Joe Dennis, Jonathan Tyrer, Michael Lush, Jacques Simard, Douglas Easton, Antonis Antoniou. DOI 10.1093/jnci/djae335

Evaluating Real World Health System Resource Utilization and Costs for a Risk-Based Breast Cancer Screening Approach in the Canadian PERSPECTIVE Integration and Implementation Project Cancers, 2024/09/18. Soo-Jin Seung, Nicole Mittmann, Zharmaine Ante, Ning Liu, Kristina M. Blackmore, Emilie S. Richard, Anisia Wong, Meghan J. Walker, Craig C. Earle, Jacques Simard, Anna M. Chiarelli. DOI 10.3390/cancers16183189

Implementing Multifactorial Risk Assessment with Polygenic Risk Scores for Personalized Breast Cancer Screening in the Population Setting: Challenges and Opportunities Cancers, 2024/05. Meghan Walker, Kristina M. Blackmore, Amy Chang, Laurence Lambert-côté, Annie Turgeon, Antonis C. Antoniou, Kathleen A. Bell, Mireille Broeders, Jennifer Brooks, Tim Carver, Jocelyne Chiquette, Philippe Després, Douglas F. Easton, Andrea Eisen, Laurence Eloy, Gareth Evans, Samantha Fienberg, Yann Joly, Raymond Kim, Shana J Kim, Bartha Knoppers, Aisha K. Lofters, Hermann Nabi, Jean-Sébastien Paquette, Nora Pashayan, Amanda J. Sheppard, Tracy Stockley, Michel Dorval, Jacques Simard, Anna M. Chiarelli. DOI 10.3390/cancers16112116

A Systematic Review and Critical Assessment of Breast Cancer Risk Prediction Tools Incorporating a Polygenic Risk Score for the General Population Cancers, 2023/11/12. Cynthia Mbuya-Bienge, Nora Pashayan, Cornelia D. Kazemali, Julie Lapointe, Jacques Simard, Hermann Nabi. DOI 10.3390/cancers15225380

Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context Human Genetics, 2023/06/26. Palmira Granados Moreno, Terese Knoppers, Ma’n H. Zawati, Michael Lang, Bartha M. Knoppers, Michael Wolfson, Hermann Nabi, Michel Dorval, Jacques Simard, Yann Joly. DOI 10.1007/s00439-023-02576-8

Contralateral breast cancer risk in irradiated breast cancer patients with a germline-BRCA1/2 pathogenic variant 2023/06/23. Maartje J. Hooning, Jacques Simard, Carole Brewer, Marjanka K. Schmidt, Miguel de la Hoya, Marc Tischkowitz, Kerstin Rhiem, Christoph Engel. DOI 10.1093/jnci/djad116

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium Breast Cancer Research, 2023/06/20. Karin Kast, Esther M. John, John L. Hopper, Nadine Andrieu, Catherine Noguès, Emmanuelle Mouret-Fourme, Christine Lasset, Jean-Pierre Fricker, Pascaline Berthet, Véronique Mari, Lucie Salle, Marjanka K. Schmidt, Margreet G. E. M. Ausems, Encarnacion B. Gomez Garcia, Irma van de Beek, Marijke R. Wevers, D. Gareth Evans, Marc Tischkowitz, Fiona Lalloo, Jackie Cook, Louise Izatt, Vishakha Tripathi, Katie Snape, Hannah Musgrave, Saba Sharif, Jennie Murray, Sarah V. Colonna, Irene L. Andrulis, Mary B. Daly, Melissa C. Southey, Miguel de la Hoya, Ana Osorio, Lenka Foretova, Dita Berkova, Anne-Marie Gerdes, Edith Olah, Anna Jakubowska, Christian F. Singer, Yen Tan, Annelie Augustinsson, Johanna Rantala, Jacques Simard, Rita K. Schmutzler, Roger L. Milne, Kelly-Anne Phillips, Mary Beth Terry, David Goldgar, Flora E. van Leeuwen, Thea M. Mooij, Antonis C. Antoniou, Douglas F. Easton. DOI 10.1186/s13058-023-01673-w

Canadian Healthcare Professionals’ Views and Attitudes toward Risk-Stratified Breast Cancer Screening Journal of Personalized Medicine, 2023/06. Julie Lapointe, Jean-Martin Côté, Cynthia Mbuya-Bienge, Michel Dorval, Nora Pashayan, Jocelyne Chiquette, Laurence Eloy, Annie Turgeon, Laurence Lambert-côté, Jennifer Brooks, Meghan J. Walker, Kristina Maria Blackmore, Yann Joly, Bartha Knoppers, Anna Maria Chiarelli, Jacques Simard, Hermann Nabi. DOI 10.3390/jpm13071027

Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions. Journal of the National Cancer Institute, 2023/06/01. Sara Lindstrom, Wang L, Feng H, Majumdar A, Huo S, Macdonald J, Harrison T, Constance Turman, Hongjie Chen, Mancuso N, Bammler T, Breast Cancer Association Consortium (BCAC), Gallinger S, Stephen B. Gruber, Gunter MJ, Loic Le Marchand, Victor Moreno, Kenneth Offit, Colorectal Transdisciplinary Study (CORECT), Colon Cancer Family Registry Study (CCFR), Genetics And Epidemiology Of Colorectal Cancer Consortium (GECCO), De Vivo I, O'Mara TA, Spurdle AB, Tomlinson I, Endometrial Cancer Association Consortium (ECAC), Fitzgerald R, Puya Gharahkhani, Gockel I, Jankowski J, Stuart MacGregor, Johannes Schumacher, Barnholtz-Sloan J, Bondy ML, Richard Houlston, Jenkins RB, Melin B, Wrensch M, Paul Brennan, Christiani DC, Mattias Johansson, Mckay J, Aldrich MC, Amos CI, Landi MT, Tardon A, International Lung Cancer Consortium (ILCCO), Bishop DT, Demenais F, Goldstein AM, Mark Iles, Kanetsky PA, Matthew H. Law. DOI 10.1093/jnci/djad043

Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C. Cancer research, 2023/05/30. Chunling Hu, ANIL BELUR NAGARAJ, Hermela Shimelis, Gemma Montalban, Kun Lee, Huaizhi Huang, Carolyn Lumby, jie na, Lisa Susswein, Maegan Roberts, Megan Marshall, Susan Hiraki, Holly LaDuca, Elizabeth, AMAL YUSSUF, Tina Pesaran, Susan Neuhausen, Christopher Haiman, Peter Kraft, Sara Lindstrom, Julie Palmer, Lauren Teras, Celine Vachon, Song Yao, Irene Ong, Nathanson KL, Jeffrey Weitzel, Nicholas Boddicker, Rohan Gnanaolivu, Eric Polley, Georges Mer, gaofeng cui, Rachid Karam, Marcy Richardson, Susan Domchek, Siddhartha Yadav, Kathleen Hruska, Jill Dolinsky, Saravut Weroha, Steven Hart, Jacques Simard, Jean Yves Masson, Yuan-Ping Pang, Fergus Couch. DOI 10.1158/0008-5472.can-22-2319

Perceptions and Usability of PREVENTION: A Breast Cancer Risk Assessment e-Platform Journal of Personalized Medicine, 2023/05/18. Samar Attieh, Marika Monarque, Andrew Durand, Saima Ahmed, Bartha M. Knoppers, Jacques Simard, Carmen G. Loiselle. DOI 10.3390/jpm13050850

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. British journal of cancer, 2023/04/19. Denise G. O'Mahony, Susan Ramus, Southey MC, Nicola S Meagher, Hadjisavvas A, John EM, Hamann U, Imyanitov EN, Irene L. Andrulis, Sharma P, Daly MB, Hake CR, Jeffrey Weitzel, Anna Jakubowska, Andrew Godwin, Adalgeir Arason, Bane A, Jacques Simard, Soucy P, Caligo MA, Mai PL, Claes KBM, Manuel R. Teixeira, Wendy Chung, Lazaro C, Peter Hulick, Amanda Ewart Toland, Inge Søkilde Pedersen, HEBON Investigators, Susan Neuhausen, Ana Vega, Miguel de la Hoya, Heli Nevanlinna, Dhawan M, Zampiga V, Danesi R, Varesco L, Gismondi V, Vellone VG, James PA, Janavicius R, Nikitina-Zake L, Nielsen FC, van Overeem Hansen T, Pejovic T, Borg A, Rantala J, Offit K, Montagna M, Nathanson KL, Domchek SM. DOI 10.1038/s41416-023-02263-5

Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2023/03/01. Nasim Mavaddat, Lorenzo Ficorella, Tim Carver, Andrew Lee, Alex Cunningham, Michael Lush, Joe Dennis, Marc Tischkowitz, Kate Downes, Donglei Hu, Eric Hahnen, Rita Schmutzler, Tracy Stockley, Gregory S Downs, Tong Zhang, Anna Chiarelli, Stig Bojesen, Cong Liu, Wendy Chung, Monica Pardo Muñoz, Lidia Feliubadaló, Dr. Judith Balmaña, Jacques Simard, Antonis Antoniou, Douglas Easton. DOI 10.1158/1055-9965.epi-22-0756

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome medicine, 2023/01/26. Mueller SH, Alvina Lai, Valkovskaya M, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Abu-Ful Z, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baert T, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Stig Bojesen, Bonanni B, Hermann Brenner, Brucker SY, Buys SS, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Chung WK, NBCS Collaborators, Colonna SV, CTS Consortium, Cornelissen S, Couch FJ, Czene K, Daly MB, Devilee P, Thilo Dörk, Dossus L, Dwek M, Diana M Eccles, Ekici AB, Eliassen AH, Engel C, Evans DG. DOI 10.1186/s13073-022-01152-5

Women’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform Hereditary Cancer in Clinical Practice, 2022/12. Saima Ahmed, Emmanuelle Lévesque, Rosalind Garland, Bartha Knoppers, Michel Dorval, Jacques Simard, Carmen Loiselle. DOI 10.1186/s13053-022-00214-4

Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics. American journal of human genetics, 2022/11/09. Jia G, Ping J, Shu X, Yang Y, Cai Q, Kweon SS, Choi JY, Kubo M, Park SK, Bolla MK, Dennis J, Wang Q, Guo X, Li B, Tao R, Aronson KJ, Chan TL, Gao YT, Hartman M, WEANG KEE HO, Ito H, Iwasaki M, Iwata H, John EM, Kasuga Y, Kim MK, Allison Kurian, Kwong A, Li J, Lophatananon A, Low SK, Mariapun S, Matsuda K, Matsuo K, Muir K, Noh DY, Park B, Park MH, Shen CY, Shin MH, Spinelli JJ, Takahashi A, Tseng C, Tsugane S, Wu AH, Yamaji T, Zheng Y, Dunning AM, Pharoah PDP, Soo Teo, Kang D. DOI 10.1016/j.ajhg.2022.10.011

Using Real-World Data to Determine Health System Costs of Ontario Women Screened for Breast Cancer Current Oncology, 2022/10/31. Nicole Mittmann, Soo Jin Seung, Christina Diong, Jodi M. Gatley, Michael Wolfson, Marie-Hélène Guertin, Nora Pashayan, Jacques Simard, Anna M. Chiarelli. DOI 10.3390/curroncol29110657

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Communications biology, 2022/10/06. Hakkaart C, John F Pearson, Marquart L, Joe Dennis, Wiggins GAR, Daniel Barnes, Robinson BA, Peter Mace, Aittomäki K, Irene L. Andrulis, Arun BK, Jacopo Azzollini, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Marinus Blok, Boonen SE, Borde J, Bradbury AR, Joan Brunet, Buys SS, Caligo MA, Ian Campbell, Wendy Chung, Kathleen Claes, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Sita Dandiker, Davidson R, Miguel de la Hoya, Robin de Putter, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Douglas Easton, Hans Ehrencrona, Christoph Engel, Gareth Evans, Faust U, Lidia Feliubadaló, Fostira F. DOI 10.1038/s42003-022-03978-6

Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study. Journal of medical genetics, 2022/09/26. Xin Yang, mikael eriksson, Czene K, Andrew Lee, Leslie G, Lush M, Wang J, Dennis J, Dorling L, Carvalho S, Mavaddat N, Simard J, Schmidt MK, Easton DF, Hall P, Antonis Antoniou. DOI 10.1136/jmg-2022-108806

Enhancing the BOADICEA cancer risk prediction model to incorporate new data on <i>RAD51C</i>, <i>RAD51D</i>, <i>BARD1</i> updates to tumour pathology and cancer incidence. Journal of medical genetics, 2022/09/26. Andrew Lee, Mavaddat N, Cunningham A, Carver T, Lorenzo Ficorella, Archer S, Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J, Schmidt MK, Peter Devilee, Vesna Zadnik, Jürgens H, Mouret-Fourme E, De Pauw A, Rookus M, Mooij TM, Paul Pharoah, Easton DF, Antonis Antoniou. DOI 10.1136/jmedgenet-2022-108471

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study. British journal of sports medicine, 2022/09/06. Suzanne C. Dixon-Suen, Lewis SJ, Richard Martin, English DR, Terry Boyle, Giles GG, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Investigators A, Ahearn TU, Ambrosone CB, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Auvinen P, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Bermisheva M, Blomqvist C, Bogdanova NV, Stig Bojesen, Bonanni B, Hermann Brenner, Brüning T, Buys SS, Camp NJ, Campa D, Canzian F, Castelao JE, Cessna MH, Chang-Claude J, Chanock SJ, Clarke CL, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Thilo Dörk, Dwek M, Diana M Eccles, Eliassen AH. DOI 10.1136/bjsports-2021-105132

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry Cancers, 2022/07. Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A. Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet Ausems, Riccardo Berutti, Manjeet K. Bolla, Shelley Bull, Sara Carvalho, Sten Cornelissen, Michael R. Dufault, Alison M. Dunning, Christoph Engel, Andrea Gehrig, Willemina R. R. Geurts-Giele, Christian Gieger, Jessica, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans B. L. Hogervorst, Antoinette Hollestelle, Maartje J. Hooning, Judit Horváth, M. Arfan Ikram, Silke Kaulfuß, Renske Keeman, Renske Keeman, Craig Luccarini, Wolfgang Maier, John Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul D. P. Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M. Strom, Christian Sutter, Holger Thiele, Christi J. van Asperen, Lizet van der Kolk, Rob B. van der Luijt, Alexander E. Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard H.F. Weber, Genome of the Netherlands Project, GHS Study Group, Peter Devilee, Sean Tavtigian, Gary Bader, Alfons Meindl, David E. Goldgar, Irene L. Andrulis, Rita K. Schmutzler, Douglas F. Easton, MK Schmidt, Eric Hahnen, Jacques Simard. DOI 10.3390/cancers14143363

Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention Current Oncology, 2022/06. Lauren C. Tindale, Almira Zhantuyakova, Stephanie Lam, Michelle Woo, Janice S. Kwon, Gillian E. Hanley, Bartha Knoppers, Kasmintan Schrader, Stuart J. Peacock, Aline Talhouk, Trevor Dummer, Kelly Metcalfe, Nora Pashayan, William D. Foulkes, Ranjit Manchanda, David Huntsman, Gavin Stuart, Jacques Simard, Lesa Dawson. DOI 10.3390/curroncol29070368

A genome-wide gene-based gene-environment interaction study of breast cancer in more than 90,000 women. Cancer research communications, 2022/04/08. Wang X, Chen H, Middha Kapoor P, Su YR, Bolla MK, Dennis J, Dunning AM, Lush M, Wang Q, Kyriaki Michailidou, Pharoah PDP, Hopper JL, Southey MC, Koutros S, Beane Freeman LE, Stone J, Rennert G, Shibli R, Murphy RA, Aronson K, Guénel P, Truong T, Teras LR, Hodge JM, Canzian F, Kaaks R, Brenner H, Arndt V, Hoppe R, Lo WY, Behrens S, Mannermaa A, Kosma VM, Jung A, Becher H, Giles GG, Haiman CA, Maskarinec G, Scott C, Winham S, Simard J, Goldberg MS, Zheng W, Long J, Troester MA, Love MI, Peng C, Tamimi R, Eliassen H, Montserrat Garcia-Closas, Figueroa J. DOI 10.1158/2767-9764.crc-21-0119

Polygenic risk modeling for prediction of epithelial ovarian cancer risk European Journal of Human Genetics, 2022/03. Eileen O. Dareng, Jonathan Tyrer, Daniel Barnes, Michelle R. Jones, Xin Yang, Katja K. H. Aben, Muriel A. Adank, Simona Agata, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Gerasimos Aravantinos, Banu K. Arun, Annelie Augustinsson, Judith Balmaña, Elisa V. Bandera, Rosa B. Barkardottir, Daniel Barrowdale, Matthias W. Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Marina Bermisheva, Marcus Q. Bernardini, Line Bjorge, Amanda Black, Natalia V. Bogdanova, Bernardo Bonanni, Ake Borg, James D. Brenton, Agnieszka Budzilowska, Ralf Butzow, Saundra S. Buys, Hui Cai, Maria A. Caligo, Ian Campbell, Rikki Cannioto, Hayley Cassingham, Jenny Chang-Claude, Stephen Chanock, Kexin Chen, Yoke-Eng Chiew, Wendy K. Chung, Kathleen Claes, Sarah Colonna, Fabienne Lesueur, Noura Mebirouk, Christoph Engel, Rita K. Schmutzler, Daniel Barrowdale, Eleanor Davies, Diana M. Eccles. DOI 10.1038/s41431-021-00987-7

Rare germline copy number variants (CNVs) and breast cancer risk. Communications biology, 2022/01/18. Joe Dennis, Jonathan Tyrer, Logan Walker, Kyriaki Michailidou, Dorling L, Bolla MK, Qin Wang, Ahearn TU, Irene L. Andrulis, Anton-Culver H, Antonenkova NN, Volker Arndt, Kristan Aronson, Freeman LEB, Beckmann MW, Sabine Behrens, Benitez J, Bermisheva M, Bogdanova NV, Stig Bojesen, Hermann Brenner, Jose E Castelao, Chang-Claude J, Chenevix-Trench G, Clarke CL, NBCS Collaborators, Collée JM, CTS Consortium, Couch FJ, Angela Cox, Cross SS, Czene K, Devilee P, Thilo Dörk, Laure Dossus, Eliassen AH, mikael eriksson, Gareth Evans, Fasching PA, Jonine Figueroa, Fletcher O, Flyger H, Lin Fritschi, Marike Gabrielson, Gago-Dominguez M, Montserrat Garcia-Closas, Graham Giles, González-Neira A, Pascal Guenel, Hahnen E, Haiman CA. DOI 10.1038/s42003-021-02990-6

Polygenic risk scores for prediction of breast cancer risk in Asian populations. Genetics in medicine : official journal of the American College of Medical Genetics, 2021/12/15. Ho WK, Tai MC, Dennis J, Shu X, Li J, Ho PJ, Millwood IY, Lin K, Jee YH, Lee SH, Mavaddat N, Bolla MK, Wang Q, Kyriaki Michailidou, Long J, Wijaya EA, Hassan T, Rahmat K, Tan VKM, Tan BKT, Tan SM, Tan EY, Lim SH, Gao YT, Zheng Y, Kang D, Choi JY, Han W, Lee HB, Kubo M, Okada Y, Shinichi Namba, BioBank Japan Project, Park SK, Kim SW, CHEN-YANG SHEN, Wu PE, Park B, Muir KR, Lophatananon A, Wu AH, Tseng CC, Matsuo K, Ito H, Kwong A, Chan TL, John EM, Allison Kurian, Iwasaki M, Yamaji T, Kweon SS. DOI 10.1016/j.gim.2021.11.008

Women's Views on Multifactorial Breast Cancer Risk Assessment and Risk-Stratified Screening: A Population-Based Survey from Four Provinces in Canada J Pers Med, 2021. DOI 10.3390/jpm11020095

Toward a Population-Based Breast Cancer Risk Stratification Approach? The Needs and Concerns of Healthcare Providers J Pers Med, 2021. DOI 10.3390/jpm11060540

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant Genet Med, 2021. DOI 10.1038/s41436-021-01198-7

Should Age-Dependent Absolute Risk Thresholds Be Used for Risk Stratification in Risk-Stratified Breast Cancer Screening? J Pers Med, 2021. DOI 10.3390/jpm11090916

Risk-Stratified Approach to Breast Cancer Screening in Canada: Women's Knowledge of the Legislative Context and Concerns about Discrimination from Genetic and Other Predictive Health Data J Pers Med, 2021. DOI 10.3390/jpm11080726

Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries Int J Epidemiol, 2021. DOI 10.1093/ije/dyab036

Potential of polygenic risk scores for improving population estimates of women's breast cancer genetic risks Genet Med, 2021. DOI 10.1038/s41436-021-01258-y

Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer HGG Adv, 2021. DOI 10.1016/j.xhgg.2021.100042

Personalizing Breast Cancer Screening Based on Polygenic Risk and Family History J Natl Cancer Inst, 2021. DOI 10.1093/jnci/djaa127

Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I) J Pers Med, 2021. DOI 10.3390/jpm11060511

PALB2 Variants: Protein Domains and Cancer Susceptibility Trends Cancer, 2021. DOI 10.1016/j.trecan.2020.10.002

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study Am J Obstet Gynecol, 2021. DOI 10.1016/j.ajog.2021.01.014

Mendelian randomisation study of smoking exposure in relation to breast cancer risk Br J Cancer, 2021. DOI 10.1038/s41416-021-01432-8

Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals HGG Adv, 2021. DOI 10.1016/j.xhgg.2021.100041

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element Am J Hum Genet, 2021. DOI 10.1016/j.ajhg.2021.05.013

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects NPJ Breast Cancer, 2021. DOI 10.1038/s41523-021-00255-3

CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers Br J Cancer, 2021. DOI 10.1038/s41416-020-01185-w

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores J Natl Cancer Inst, 2021. DOI 10.1093/jnci/djab147

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women N Engl J Med, 2021. DOI 10.1056/NEJMoa1913948

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers Nat Commun, 2021. DOI 10.1038/s41467-021-23162-4

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers Nat Commun, 2021. DOI 10.1038/s41467-020-20496-3

A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study Cancers (Basel), 2021. DOI 10.3390/cancers13112729

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status Genet Epidemiol, 2020. DOI 10.1002/gepi.22288

Survey of primary care physicians' views about breast and ovarian cancer screening for true BRCA1/2 non-carriers J Community Genet, 2020. DOI 10.1007/s12687-019-00438-3

Sequence kernel association test for survival outcomes in the presence of a non-susceptible fraction Biostatistics, 2020. DOI 10.1093/biostatistics/kxy075

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers Breast Cancer Res, 2020. DOI 10.1186/s13058-020-1247-4

Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement Nat Rev Clin Oncol, 2020. DOI 10.1038/s41571-020-0412-0

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants Genet Med, 2020. DOI 10.1038/s41436-020-0862-x

Personalized early detection and prevention of breast cancer: ENVISION consensus statement Nat Rev Clin Oncol, 2020. DOI 10.1038/s41571-020-0388-9

Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants Nat Commun, 2020. DOI 10.1038/s41467-020-15046-w

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk Sci Rep, 2020. DOI 10.1038/s41598-020-65665-y

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses Nat Genet, 2020. DOI 10.1038/s41588-020-0609-2

Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk: Data From 228 951 Women of European Descent J Natl Cancer Inst, 2020. DOI 10.1093/jnci/djz109

Functional characterization of 84 PALB2 variants of uncertain significance Genet Med, 2020. DOI 10.1038/s41436-019-0682-z

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes Nat Genet, 2020. DOI 10.1038/s41588-019-0537-1

Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk Int J Cancer, 2020. DOI 10.1002/ijc.32542

European polygenic risk score for prediction of breast cancer shows similar performance in Asian women Nat Commun, 2020. DOI 10.1038/s41467-020-17680-w

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers Breast Cancer Res, 2020. DOI 10.1186/s13058-020-01259-w

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) JAMA Oncol, 2020. DOI 10.1001/jamaoncol.2020.2134

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer NPJ Breast Cancer, 2020. DOI 10.1038/s41523-020-00185-6

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness Cancer Res, 2020. DOI 10.1158/0008-5472.Can-19-1840

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers Nat Commun, 2020. DOI 10.1038/s41467-020-16483-3

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium Cancer Epidemiol Biomarkers Prev, 2020. DOI 10.1158/1055-9965.Epi-19-0546

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis Nat Commun, 2020. DOI 10.1038/s41467-019-14100-6

A Mendelian randomization analysis of circulating lipid traits and breast cancer risk Int J Epidemiol, 2020. DOI 10.1093/ije/dyz242

Two truncating variants in FANCC and breast cancer risk Sci Rep, 2019. DOI 10.1038/s41598-019-48804-y

The association between weight at birth and breast cancer risk revisited using Mendelian randomisation Eur J Epidemiol, 2019. DOI 10.1007/s10654-019-00485-7

The Tumor Suppressor PALB2: Inside Out Trends Biochem Sci, 2019. DOI 10.1016/j.tibs.2018.10.008

The Passing of Dr. Fernand Labrie (1937-2019): The legacy of excellence in science J Steroid Biochem Mol Biol, 2019. DOI 10.1016/j.jsbmb.2019.02.005

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer NPJ Breast Cancer, 2019. DOI 10.1038/s41523-019-0127-5

Shared heritability and functional enrichment across six solid cancers Nat Commun, 2019. DOI 10.1038/s41467-018-08054-4

Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry EBioMedicine, 2019. DOI 10.1016/j.ebiom.2019.09.006

Publisher Correction: Shared heritability and functional enrichment across six solid cancers Nat Commun, 2019. DOI 10.1038/s41467-019-12095-8

Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort Int J Cancer, 2019. DOI 10.1002/ijc.31841

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes Am J Hum Genet, 2019. DOI 10.1016/j.ajhg.2018.11.002

Organizational challenges to equity in the delivery of services within a new personalized risk-based approach to breast cancer screening New Genet Soc, 2019.

Open science precision medicine in Canada: Points to consider Facets (Ott), 2019.

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers Br J Cancer, 2019. DOI 10.1038/s41416-019-0492-8

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study J Natl Cancer Inst, 2019. DOI 10.1093/jnci/djy132

Health professionals' perspectives on breast cancer risk stratification: understanding evaluation of risk versus screening for disease Public Health Rev, 2019. DOI 10.1186/s40985-019-0111-5

Genome-wide association study of germline variants and breast cancer-specific mortality Br J Cancer, 2019. DOI 10.1038/s41416-019-0393-x

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer Nat Commun, 2019. DOI 10.1038/s41467-018-08053-5

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2 Nat Commun, 2019. DOI 10.1038/s41467-019-13194-2

Functional Analysis of Promoter Variants in Genes Involved in Sex Steroid Action, DNA Repair and Cell Cycle Control Genes (Basel), 2019. DOI 10.3390/genes10030186

Envisioning Implementation of a Personalized Approach in Breast Cancer Screening Programs: Stakeholder Perspectives Healthc Policy, 2019. DOI 10.12927/hcpol.2019.26072

DSNetwork: An Integrative Approach to Visualize Predictions of Variants' Deleteriousness Front Genet, 2019. DOI 10.3389/fgene.2019.01349

Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors Genet Med, 2019. DOI 10.1038/s41436-019-0459-4

Body mass index and the association between low-density lipoprotein cholesterol as predicted by HMGCR genetic variants and breast cancer risk Int J Epidemiol, 2019. DOI 10.1093/ije/dyz047

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors Genet Med, 2019. DOI 10.1038/s41436-018-0406-9

Authors' response: Associations of obesity and circulating insulin and glucose with breast cancer risk Int J Epidemiol, 2019. DOI 10.1093/ije/dyz015

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis Int J Epidemiol, 2019. DOI 10.1093/ije/dyy201

A response to "Personalised medicine and population health: breast and ovarian cancer" Hum Genet, 2019. DOI 10.1007/s00439-019-01984-z

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor Nucleic Acids Res, 2019. DOI 10.1093/nar/gkz780