Bernard Pope

Somatic mutation landscape in a cohort of meningiomas that have undergone grade progression.

Sarah A Cain, Bernard Pope, Stefano Mangiola, Theo Mantamadiotis, Katharine J Drummond

Journal article  |  2023  |  BMC Cancer

BACKGROUND: A subset of meningiomas progress in histopathological grade but drivers of progression are poorly understood. We aimed..

Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.

Romy Walker, Peter Georgeson, Khalid Mahmood, Jihoon E Joo, Enes Makalic, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J Pope, Ryan A Hutchinson, Kais Kasem, Michael D Walsh, Finlay A Macrae, Aung K Win, John L Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M Sieber, Dylan E O'Sullivan, et al.

Journal article  |  2023  |  J Mol Diagn

Identifying tumor DNA mismatch repair deficiency (dMMR) is important for precision medicine. Tumor features, individually and in c..

A polygenic two-hit hypothesis for prostate cancer.

Kathleen E Houlahan, Julie Livingstone, Natalie S Fox, Natalie Kurganovs, Helen Zhu, Jocelyn Sietsma Penington, Chol-Hee Jung, Takafumi N Yamaguchi, Lawrence E Heisler, Richard Jovelin, Anthony J Costello, Bernard J Pope, Amar U Kishan, Niall M Corcoran, Robert G Bristow, Sebastian M Waszak, Joachim Weischenfeldt, Housheng H He, Rayjean J Hung, Christopher M Hovens, et al.

Journal article  |  2023  |  J Natl Cancer Inst

Prostate cancer is one of the most heritable cancers. Hundreds of germline polymorphisms have been linked to prostate cancer diagn..

Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to Prostatectomy.

Elizabeth Liow, Nicholas Howard, Chol-Hee Jung, Bernard Pope, Bethany K Campbell, Anne Nguyen, Michael Kerger, Jonathan B Ruddle, Angelyn Anton, Benjamin Thomas, Kevin Chu, Philip Dundee, Justin S Peters, Anthony J Costello, Andrew S Ryan, Christopher M Hovens, Ben Tran, Niall M Corcoran

Journal article  |  2022  |  Clin Genitourin Cancer

BACKGROUND: Disease recurrence is common following prostatectomy in patients with localised prostate cancer with high-risk feature..

VIVID A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses

Swapnil Tichkule, Yoochan Myung, Myo T Naung, Brendan RE Ansell, Andrew J Guy, Namrata Srivastava, Somya Mehra, Simone M Caccio, Ivo Mueller, Alyssa E Barry, Cock van Oosterhout, Bernard Pope, David B Ascher, Aaron R Jex

Journal article  |  2022  |  MOLECULAR BIOLOGY AND EVOLUTION

Large-scale comparative genomics- and population genetic studies generate enormous amounts of polymorphism data in the form of DNA..

Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study.

Daniel Burns, Ezequiel Anokian, Edward J Saunders, Robert G Bristow, Michael Fraser, Jüri Reimand, Thorsten Schlomm, Guido Sauter, Benedikt Brors, Jan Korbel, Joachim Weischenfeldt, Sebastian M Waszak, Niall M Corcoran, Chol-Hee Jung, Bernard J Pope, Chris M Hovens, Géraldine Cancel-Tassin, Olivier Cussenot, Massimo Loda, Chris Sander, et al.

Journal article  |  2022  |  Eur Urol

BACKGROUND: Germline variants explain more than a third of prostate cancer (PrCa) risk, but very few associations have been identi..

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Peter Georgeson, Tabitha A Harrison, Bernard J Pope, Syed H Zaidi, Conghui Qu, Robert S Steinfelder, Yi Lin, Jihoon E Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Efrat L Amitay, Sonja Berndt, Hermann Brenner, Peter T Campbell, Yin Cao, Andrew T Chan, Jenny Chang-Claude, Kimberly F Doheny, David A Drew, et al.

Journal article  |  2022  |  NATURE COMMUNICATIONS

Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal cancer. We test 5649 colorecta..

Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions

Rodrigo P Baptista, Yiran Li, Adam Sateriale, Mandy J Sanders, Karen L Brooks, Alan Tracey, Brendan RE Ansell, Aaron R Jex, Garrett W Cooper, Ethan D Smith, Rui Xiao, Jennifer E Dumaine, Peter Georgeson, Bernard J Pope, Matthew Berriman, Boris Striepen, James A Cotton, Jessica C Kissinger

Journal article  |  2022  |  GENOME RESEARCH

Cryptosporidiosis is a leading cause of waterborne diarrheal disease globally and an important contributor to mortality in infants..

Perish and publish: Dynamics of biomedical publications by deceased authors.

Chol-Hee Jung, Paul C Boutros, Daniel J Park, Niall M Corcoran, Bernard J Pope, Christopher M Hovens

Journal article  |  2022  |  PLoS One

The question of whether it is appropriate to attribute authorship to deceased individuals of original studies in the biomedical li..

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

Melissa C Southey, James G Dowty, Moeen Riaz, Jason A Steen, Anne-Laure Renault, Katherine Tucker, Judy Kirk, Paul James, Ingrid Winship, Nicholas Pachter, Nicola Poplawski, Scott Grist, Daniel J Park, Bernard J Pope, Khalid Mahmood, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Amanda Rewse, et al.

Journal article  |  2021  |  NPJ BREAST CANCER

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently..