Bryony Thompson

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..

Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families

Jun Li, Hongyan Li, Igor Makunin, Bryony A Thompson, Kayoko Tao, Erin L Young, Jacqueline Lopez, Nicola J Camp, Sean V Tavtigian, Esther M John, Irene L Andrulis, Kum Kum Khanna, David Goldgar, Georgia Chenevix-Trench

Journal article  |  2017  |  Breast Cancer Research and Treatment

Elucidating the molecular basis of MSH2-deficienttumors by combined germline and somatic analysis

Gardenia M Vargas-Parra, Maribel Gonzalez-Acosta, Bryony A Thompson, Carolina Gomez, Anna Fernandez, Estela Damaso, Tirso Pons, Monika Morak, Jesus del Valle, Silvia Iglesias, Angela Velasco, Ares Solanes, Xavier Sanjuan, Natalia Padilla, Xavier de la Cruz, Alfonso Valencia, Elke Holinski-Feder, Joan Brunet, Lidia Feliubadalo, Conxi Lazaro, et al.

Journal article  |  2017  |  International Journal of Cancer

In a proportion of patients presenting mismatch repair (MMR)-deficient tumors, no germline MMR mutations are identified, the so-ca..

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria

Maribel Gonzalez-Acosta, Jesus del Valle, Matilde Navarro, Bryony A Thompson, Silvia Iglesias, Xavier Sanjuan, Maria Jose Paules, Natalia Padilla, Anna Fernandez, Raquel Cuesta, Alex Teule, Guido Plotz, Juan Cadinanos, Xavier de la Cruz, Francesc Balaguer, Conxi Lazaro, Marta Pineda, Gabriel Capella

Journal article  |  2017  |  Familial Cancer

The clinical spectrum of germline mismatch repair (MMR) gene variants continues increasing, encompassing Lynch syndrome, Constitut..

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

Erin Young, Bryony Thompson, Deborah Neklason, Angela Snow, Matthew Firpo, Theresa Werner, Russell Bell, Nykole Sutherland, Ken Smith, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy Kohlmann, Leigh Neumayer, David Goldgar, Sean Mulvihill, Lisa Cannon-Albright, Sean Tavtigian

Journal article  |  2017

ABSTRACT Background and Aims Genes associated with hereditary breast and ovarian cancer (HBOC) and colorectal cancer (CRC) suscept..

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Rossella Tricarico, Mariann Kasela, Cristina Mareni, Bryony A Thompson, Aurelie Drouet, Lucia Staderini, Greta Gorelli, Francesca Crucianelli, Valentina Ingrosso, Jukka Kantelinen, Laura Papi, Maria De Angioletti, Margherita Berardi, Pascaline Gaildrat, Omar Soukarieh, Daniela Turchetti, Alexandra Martins, Amanda B Spurdle, Minna Nystrom, Maurizio Genuardi

Journal article  |  2017  |  Human Mutation

Pathogenicity assessment of DNA variants in disease genes to explain their clinical consequences is an integral component of diagn..

Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome

Qing Liu, Bryony A Thompson, Robyn L Ward, Luke B Hesson, Mathew A Sloane

Journal article  |  2016  |  Human Mutation

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

K Joeri van der Velde, Joel Kuiper, Bryony A Thompson, John-Paul Plazzer, Gert van Valkenhoef, Mark de Haan, Jan DH Jongbloed, Cisca Wijmenga, Tom J de Koning, Kristin M Abbott, Richard Sinke, Amanda B Spurdle, Finlay Macrae, Maurizio Genuardi, Rolf H Sijmons, Morris A Swertz

Journal article  |  2015  |  Human Mutation

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

Michael T Parsons, Phillip J Whiley, Jonathan Beesley, Mark Drost, Niels de Wind, Bryony A Thompson, Louise Marquart, John L Hopper, Mark A Jenkins, Melissa A Brown, Kathy Tucker, Linda Warwick, Daniel D Buchanan, Amanda B Spurdle

Journal article  |  2015  |  Molecular Carcinogenesis

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

Bryony A Thompson, Amanda B Spurdle

Journal article  |  2015  |  Genes

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors

M Pineda, M Gonzalez-Acosta, BA Thompson, R Sanchez, C Gomez, J Martinez-Lopez, J Perea, T Caldes, Y Rodriguez, S Landolfi, J Balmana, C Lazaro, L Robles, G Capella, D Rueda

Journal article  |  2015  |  Clinical Genetics

Lynch syndrome (LS) is an autosomal dominant cancer-susceptibility disease caused by inactivating germline mutations in mismatch r..

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

BA Thompson, A Martins, AB Spurdle

Journal article  |  2015  |  Clinical Genetics

Many mismatch repair (MMR) gene disease-causing mutations identified in cancer patients result in aberrant messenger RNA (mRNA) sp..

Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients

Mathew A Sloane, Luke B Hesson, Andrea C Nunez, Bryony A Thompson, Robyn L Ward

Journal article  |  2014  |  Clinical Epigenetics

Equality in Lynch Syndrome Screening: Why Should We Hold Patients With Endometrial Cancer to a Different Standard? Reply

Daniel D Buchanan, Yen Y Tan, Michael D Walsh, Mark Clendenning, Alexander M Metcalf, Kaltin Ferguson, Sven T Arnold, Bryony A Thompson, Felicity A Lose, Michael T Parsons, Rhiannon J Walters, Sally-Ann Pearson, Margaret Cummings, Martin K Oehler, Penelope B Blomfield, Michael A Quinn, Judy A Kirk, Colin J Stewart, Andreas Obermair, Joanne P Young, et al.

Journal article  |  2014  |  Journal of Clinical Oncology

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capella, Johan T den Dunnen, Desiree du Sart, Aurelie Fabre, Michael P Farrell, Susan M Farrington, Ian M Frayling, Thierry Frebourg, David E Goldgar, Christopher D Heinen, Elke Holinski-Feder, Maija Kohonen-Corish, et al.

Journal article  |  2014  |  Nature Genetics

Tumor Mismatch Repair Immunohistochemistry and DNA MLH1 Methylation Testing of Patients With Endometrial Cancer Diagnosed at Age Younger Than 60 Years Optimizes Triage for Population-Level Germline Mismatch Repair Gene Mutation Testing

Daniel D Buchanan, Yen Y Tan, Michael D Walsh, Mark Clendenning, Alexander M Metcalf, Kaltin Ferguson, Sven T Arnold, Bryony A Thompson, Felicity A Lose, Michael T Parsons, Rhiannon J Walters, Sally-Ann Pearson, Margaret Cummings, Martin K Oehler, Penelope B Blomfield, Michael A Quinn, Judy A Kirk, Colin J Stewart, Andreas Obermair, Joanne P Young, et al.

Journal article  |  2014  |  Journal of Clinical Oncology

The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

JP Plazzer, RH Sijmons, MO Woods, P Peltomaki, B Thompson, JT Den Dunnen, F Macrae

Journal article  |  2013  |  Familial Cancer

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Bryony A Thompson, Marc S Greenblatt, Maxime P Vallee, Johanna C Herkert, Chloe Tessereau, Erin L Young, Ivan A Adzhubey, Biao Li, Russell Bell, Bingjian Feng, Sean D Mooney, Predrag Radivojac, Shamil R Sunyaev, Thierry Frebourg, Robert MW Hofstra, Rolf H Sijmons, Ken Boucher, Alun Thomas, David E Goldgar, Amanda B Spurdle, et al.

Journal article  |  2013  |  Human Mutation

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

Bryony A Thompson, David E Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T Parsons, Michael D Walsh, Steven Gallinger, Robert W Haile, John L Hopper, Mark A Jenkins, Loic LeMarchand, Noralane M Lindor, Polly A Newcomb, Stephen N Thibodeau, Joanne P Young, Daniel D Buchanan, Sean V Tavtigian, Amanda B Spurdle

Journal article  |  2013  |  Human Mutation

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Amanda B Spurdle, Phillip J Whiley, Bryony Thompson, Bingjian Feng, Sue Healey, Melissa A Brown, Christopher Pettigrew, Christi J Van Asperen, Margreet GEM Ausems, Anna A Kattentidt-Mouravieva, Ans MW van den Ouweland, Annika Lindblom, Maritta H Pigg, Rita K Schmutzler, Christoph Engel, Alfons Meindl, Sandrine Caputo, Olga M Sinilnikova, Rosette Lidereau, Fergus J Couch, et al.

Journal article  |  2012  |  Journal of Medical Genetics

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification

Michael T Parsons, Daniel D Buchanan, Bryony Thompson, Joanne P Young, Amanda B Spurdle

Journal article  |  2012  |  Journal of Medical Genetics

Pancreatic Cancer and a Novel MSH2 Germline Alteration

Noralane M Lindor, Gloria M Petersen, Amanda B Spurdle, Bryony Thompson, David E Goldgar, Stephen N Thibodeau

Journal article  |  2011  |  Pancreas

Mutation deep within an intron of MSH2 causes Lynch syndrome

Mark Clendenning, Daniel D Buchanan, Michael D Walsh, Belinda Nagler, Christophe Rosty, Bryony Thompson, Amanda B Spurdle, John L Hopper, Mark A Jenkins, Joanne P Young

Journal article  |  2011  |  Familial Cancer

Splicing and Multifactorial Analysis of Intronic BRCA1 and BRCA2 Sequence Variants Identifies Clinically Significant Splicing Aberrations up to 12 Nucleotides from the Intron/Exon Boundary

Phillip J Whiley, Lucia Guidugli, Logan C Walker, Sue Healey, Bryony A Thompson, Sunil R Lakhani, Leonard M Da Silva, Sean V Tavtigian, David E Goldgar, Melissa A Brown, Fergus J Couch, Amanda B Spurdle

Journal article  |  2011  |  Human Mutation

Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity

Logan C Walker, Phillip J Whiley, Fergus J Couch, Daniel J Farrugia, Sue Healey, Diana M Eccles, Feng Lin, Samantha A Butler, Sheila A Goff, Bryony A Thompson, Sunil R Lakhani, Leonard M Da Silva, Sean V Tavtigian, David E Goldgar, Melissa A Brown, Amanda B Spurdle

Journal article  |  2010  |  Human Mutation

Use of DNA-Damaging Agents and RNA Pooling to Assess Expression Profiles Associated with BRCA1 and BRCA2 Mutation Status in Familial Breast Cancer Patients

Logan C Walker, Bryony A Thompson, Nic Waddell, Sean M Grimmond, Amanda B Spurdle

Journal article  |  2010  |  PLoS Genetics

Effects of BRCA1 Knockdown on CYP19a1/Aromatase and Steroid Receptor Expression in Ovarian and Tubal Cells

Jean S Fleming, Igor Ruza

Journal article  |  Journal of Molecular and Genetic Medicine