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1

Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity

Li, Shuwei, Qian, Dajun, Thompson, Bryony A, Gutierrez, Stephanie, Wu, Sitao, Pesaran, Tina, LaDuca, Holly, Lu, Hsiao-Mei, Chao, Elizabeth C, Black, Mary Helen

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 372 KB

2020

2

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

Tricarico, Rossella, Kasela, Mariann, Mareni, Cristina, Thompson, Bryony A., Drouet, Aurélie, Staderini, Lucia, Gorelli, Greta, Crucianelli, Francesca, Ingrosso, Valentina, Kantelinen, Jukka, Papi, La

Journal:

Year:

2016

Language:

english

File:

PDF, 1.10 MB

english, 2016

3

Elucidating the molecular basis of msh2-deficient tumors by combined germline and somatic analysis

Vargas-Parra, Gardenia M., González-Acosta, Maribel, Thompson, Bryony A., Gómez, Carolina, Fernández, Anna, Dámaso, Estela, Pons, Tirso, Morak, Monika, del Valle, Jesús, Iglesias, Silvia, Velasco, Àng

Journal:

International Journal of Cancer

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

4

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

CannonâAlbright, Lisa A., Teerlink, Craig C., Stevens, Jeffrey, Snow, Angela K., Thompson, Bryony A., Bell, Russell, Nguyen, Kim N., Sargent, Nykole R., Kohlmann, Wendy K., Neklason, Deborah W., Tav

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 521 KB

2020

5

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

Journal:

Year:

2010

Language:

english

File:

PDF, 450 KB

english, 2010

6

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, kConFab Investigators, Sean V. Tavtigian, David E. Goldgar, Melissa A. Brown,

Journal:

Year:

2011

Language:

english

File:

PDF, 293 KB

english, 2011

7

Mutation deep within an intron ofMSH2causes 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:

Familial Cancer

Year:

2011

Language:

english

File:

PDF, 320 KB

english, 2011

8

Characterisation of molecular alterations in microdissected archival gliomas

Carol Walker, Kathryn A. Joyce, Joanne Thompson-Hehir, Michael P. A. Davies, Fiona E. M. Gibbs, Nigel Halliwell, Bryony H. Lloyd, Yvonne Machell, Margaret M. Roebuck, Jean Salisbury, David R. Sibson,

Journal:

Acta Neuropathologica

Year:

2001

Language:

english

File:

PDF, 371 KB

english, 2001

9

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

Thompson, Bryony A., Goldgar, David E., Paterson, Carol, Clendenning, Mark, Walters, Rhiannon, Arnold, Sven, Parsons, Michael T., Michael D., Walsh, Gallinger, Steven, Haile, Robert W., Hopper, John L

Journal:

Year:

2013

Language:

english

File:

PDF, 361 KB

english, 2013

10

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

Thompson, Bryony A., Greenblatt, Marc S., Vallee, Maxime P., Herkert, Johanna C., Tessereau, Chloe, Young, Erin L., Adzhubey, Ivan A., Li, Biao, Bell, Russell, Feng, Bingjian, Mooney, Sean D., Radivoj

Journal:

Year:

2013

Language:

english

File:

PDF, 273 KB

english, 2013

11

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

Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree,

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 663 KB

english, 2013

12

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

Parsons, Michael T., Whiley, Phillip J., Beesley, Jonathan, Drost, Mark, de Wind, Niels, Thompson, Bryony A., Marquart, Louise, Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tucker, Kathy, War

Journal:

Molecular Carcinogenesis

Year:

2015

Language:

english

File:

PDF, 321 KB

english, 2015

13

Su1086 Classification of Discordant Variants in the Mismatch Repair Genes

Plazzer, John-Paul, Spurdle, Amanda, Thompson, Bryony A., Greenblatt, Marc S., Macrae, Finlay A., Genuardi, Maurizio

Journal:

Gastroenterology

Year:

2013

Language:

english

File:

PDF, 118 KB

english, 2013

14

Abstracts

Lamb, Bryony, Thompson, Anne

Journal:

Journal of Interprofessional Care

Year:

2009

Language:

english

File:

PDF, 149 KB

english, 2009

15

Nucleosome positioning is unaltered atMLH1splice site mutations in cells derived from Lynch syndrome patients

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

Journal:

Clinical Epigenetics

Year:

2014

Language:

english

File:

PDF, 1.53 MB

english, 2014

16

Abstracts

Lamb, Bryony, Thompson, Anne

Journal:

Journal of Interprofessional Care

Year:

2007

Language:

english

File:

PDF, 60 KB

english, 2007

17

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

Walker, Logan C., Thompson, Bryony A., Waddell, Nic, Investigators, kConFab, Grimmond, Sean M., Spurdle, Amanda B., Stranger, Barbara E.

Journal:

Year:

2010

Language:

english

File:

PDF, 380 KB

english, 2010

18

Meaningful health outcomes for paediatric neurodisability: Stakeholder prioritisation and appropriateness of patient reported outcome measures

Morris, Christopher, Janssens, Astrid, Shilling, Valerie, Allard, Amanda, Fellowes, Andrew, Tomlinson, Richard, Williams, Jane, Thompson Coon, Jo, Rogers, Morwenna, Beresford, Bryony, Green, Colin, Je

Journal:

Health and Quality of Life Outcomes

Year:

2015

Language:

english

File:

PDF, 993 KB

english, 2015

19

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

van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John-Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke,

Journal:

Year:

2015

Language:

english

File:

PDF, 430 KB

english, 2015

20

Pancreatic Cancer and a Novel MSH2 Germline Alteration

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

Journal:

Year:

2011

Language:

english

File:

PDF, 270 KB

english, 2011

21

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

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

Journal:

Year:

2016

Language:

english

File:

PDF, 632 KB

english, 2016

22

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

González-Acosta, Maribel, del Valle, Jesús, Navarro, Matilde, Thompson, Bryony A., Iglesias, Sílvia, Sanjuan, Xavier, Paúles, María José, Padilla, Natàlia, Fernández, Anna, Cuesta, Raquel, Teulé, Àlex

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 940 KB

english, 2017

23

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

Li, Jun, Li, Hongyan, Makunin, Igor, Thompson, Bryony A., Tao, Kayoko, Young, Erin L., Lopez, Jacqueline, Camp, Nicola J., Tavtigian, Sean V., John, Esther M., Andrulis, Irene L., Khanna, Kum Kum, Gol

Journal:

Breast Cancer Research and Treatment

Year:

2017

Language:

english

File:

PDF, 552 KB

english, 2017

24

Pancreatic cancer as a sentinel for hereditary cancer predisposition

Young, Erin L., Thompson, Bryony A., Neklason, Deborah W., Firpo, Matthew A., Werner, Theresa, Bell, Russell, Berger, Justin, Fraser, Alison, Gammon, Amanda, Koptiuch, Cathryn, Kohlmann, Wendy K., Neu

Journal:

Year:

2018

Language:

english

File:

PDF, 991 KB

english, 2018

25

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

Shamsani, Jannah, Kazakoff, Stephen H, Armean, Irina M, McLaren, Will, Parsons, Michael T, Thompson, Bryony A, O’Mara, Tracy A, Hunt, Sarah E, Waddell, Nicola, Spurdle, Amanda B, Berger, Bonnie

Journal:

Year:

2018

Language:

english

File:

PDF, 349 KB

english, 2018

26

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

Drost, Mark, Tiersma, Yvonne, Thompson, Bryony A., Frederiksen, Jane H., Keijzers, Guido, Glubb, Dylan, Kathe, Scott, Osinga, Jan, Westers, Helga, Pappas, Lisa, Boucher, Kenneth M., Molenkamp, Siska,

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.91 MB

english, 2018

27

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

Thompson, Bryony, Spurdle, Amanda

Journal:

Year:

2015

Language:

english

File:

PDF, 2.68 MB

english, 2015

28

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

Seifert, Bryce A., McGlaughon, Jennifer L., Jackson, Sarah A., Ritter, Deborah I., Roberts, Maegan E., Schmidt, Ryan J., Thompson, Bryony A., Jimenez, Sharisse, Trapp, Mackenzie, Lee, Kristy, Plon, Sh

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 665 KB

english, 2018

29

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Drost, Mark, Tiersma, Yvonne, Glubb, Dylan, Kathe, Scott, van Hees, Sandrine, CallÃ©ja, Fabienne, Zonneveld, JosÃ© B. M., Boucher, Kenneth M., Ramlal, Renuka P. E., Thompson, Bryony A., Rasmussen, Len

Journal:

Genetics in Medicine

Year:

2020

Language:

english

File:

PDF, 1.73 MB

english, 2020

30

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis

Thompson, Bryony A., Snow, Angela K., Koptiuch, Cathryn, Kohlmann, Wendy K., Mooney, Ryan, Johnson, Sara, Huff, Chad D., Yu, Yao, Teerlink, Craig C., Feng, BingâJian, Neklason, Deborah W., Cannonâ

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 485 KB

2020

31

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Baderna, Valentina, Schultz, Joshua, Kearns, Lisa S., Fahey, Michael, Thompson, Bryony A., Ruddle, Jonathan B., Huq, Aamira, Maltecca, Francesca

Journal:

Acta Neuropathologica Communications

Year:

2020

File:

PDF, 4.52 MB

2020

32

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

DÃ¡maso, Estela, GonzÃ¡lez-Acosta, Maribel, Vargas-Parra, Gardenia, Navarro, Matilde, BalmaÃ±a, Judith, Ramon y Cajal, Teresa, Tuset, NoemÃ, Thompson, Bryony A., MarÃn, FÃ¡tima, FernÃ¡ndez, Anna, GÃ

Journal:

Year:

2020

File:

PDF, 1.79 MB

2020

33

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Thompson, Bryony A., Walters, Rhiannon, Parsons, Michael T., Dumenil, Troy, Drost, Mark, Tiersma, Yvonne, Lindor, Noralane M., Tavtigian, Sean V., de Wind, Niels, Spurdle, Amanda B.

Journal:

Frontiers in Genetics

Year:

2020

File:

PDF, 2.26 MB

2020