Bryony Thompson

PanelApp: accelerating international consensus on virtual gene panels through collaboration on a federated open platform

Z Stark, RE Foulger, E Williams, B Thompson, C Patel, IUS Leong, LC Daugherty, S Leigh, C Snow, C Boustred, O Niblock, A Rueda-Martin, O Gerasimenko, E Ivanov, K Savage, W Bellamy, V San Kho Lin, R Valls, L Gordon, H Brittain, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

FANCM c5791C > T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor

Lisa A Cannon-Albright, Craig C Teerlink, Jeffrey Stevens, Angela K Snow, Bryony A Thompson, Russell Bell, Kim N Nguyen, Nykole R Sargent, Wendy K Kohlmann, Deborah W Neklason, Sean Tavtigian

Journal article  |  2020  |  Molecular Genetics and Genomic Medicine

PURPOSE: While familial aggregation of colorectal cancer (CRC) is recognized, the majority of the germline predisposition factors ..

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

BA Thompson, R Walters, MT Parsons, T Dumenil, M Drost, Y Tiersma, NM Lindor, SV Tavtigian, N de Wind, AB Spurdle

Journal article  |  2020  |  Frontiers in Genetics

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

Estela Damaso, Maribel Gonzalez-Acosta, Gardenia Vargas-Parra, Matilde Navarro, Judith Balmana, Teresa Ramon y Cajal, Noemi Tuset, Bryony A Thompson, Fatima Marin, Anna Fernandez, Carolina Gomez, Angela Velasco, Ares Solanes, Silvia Iglesias, Gisela Urgel, Consol Lopez, Jesus del Valle, Olga Campos, Maria Santacana, Xavier Matias-Guiu, et al.

Journal article  |  2020  |  Cancers

The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains unknown. Our aim was to elucidate the constitu..

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals

Paul Lacaze, Robert Sebra, Moeen Riaz, Jane Tiller, Jerico Revote, James Phung, Emily J Parker, Suzanne G Orchard, Jessica E Lockery, Rory Wolfe, Maya Strahl, Ying C Wang, Rong Chen, Daniel Sisco, Todd Arnold, Bryony A Thompson, Daniel D Buchanan, Finlay A Macrae, Paul A James, Walter P Abhayaratna, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly individ..

Association of preoperative anaemia with cardiopulmonary exercise capacity and postoperative outcomes in noncardiac surgery: a substudy of the Measurement of Exercise Tolerance before Surgery (METS) Study.

J Bartoszko, KE Thorpe, A Laupacis, DN Wijeysundera, undefined METS Study Investigators, undefined International and National Coordinators, undefined Central Project Office Operations Committee, undefined CPET Methods Committee, undefined Outcome Adjudication Committee, undefined International Steering Committee

Journal article  |  2019  |  British Journal of Anaesthesia

BACKGROUND: Preoperative anaemia is associated with elevated risks of postoperative complications. This association may be explain..

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.

Mark Drost, Yvonne Tiersma, Bryony A Thompson, Jane H Frederiksen, Guido Keijzers, Dylan Glubb, Scott Kathe, Jan Osinga, Helga Westers, Lisa Pappas, Kenneth M Boucher, Siska Molenkamp, José B Zonneveld, Christi J van Asperen, David E Goldgar, Susan S Wallace, Rolf H Sijmons, Amanda B Spurdle, Lene J Rasmussen, Marc S Greenblatt, et al.

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: To enhance classification of variants of uncertain significance (VUS) in the DNA mismatch repair (MMR) genes in the cance..

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.

Bryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, Deborah I Ritter, Maegan E Roberts, Ryan J Schmidt, Bryony A Thompson, Sharisse Jimenez, Mackenzie Trapp, Kristy Lee, Sharon E Plon, Kenneth Offit, Zsofia K Stadler, Liying Zhang, Marc S Greenblatt, Matthew J Ferber

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using th..

Using the 6-minute walk test to predict disability-free survival after major surgery

MA Shulman, BH Cuthbertson, DN Wijeysundera, RM Pearse, B Thompson, E Torres, A Ambosta, S Wallace, C Farrington, PS Myles

Journal article  |  2019  |  British Journal of Anaesthesia

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Erin L Young, Bryony A Thompson, Deborah W Neklason, Matthew A Firpo, Theresa Werner, Russell Bell, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K Kohlmann, Leigh Neumayer, David E Goldgar, Sean J Mulvihill, Lisa A Cannon-Albright, Sean V Tavtigian

Journal article  |  2018  |  BMC Cancer

BACKGROUND: Genes associated with hereditary breast and ovarian cancer (HBOC) and colorectal cancer (CRC) predisposition have been..