Julia Como

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..

Quantitative Pathologic Analysis of Digitized Images of Colorectal Carcinoma Improves Prediction of Recurrence-Free Survival.

Reetesh K Pai, Imon Banerjee, Sameer Shivji, Suchit Jain, Douglas Hartman, Daniel D Buchanan, Mark A Jenkins, David F Schaeffer, Christophe Rosty, Julia Como, Amanda I Phipps, Polly A Newcomb, Andrea N Burnett-Hartman, Loic Le Marchand, Niloy J Samadder, Bhavik Patel, Carol Swallow, Noralane M Lindor, Steven J Gallinger, Robert C Grant, et al.

Journal article  |  2022  |  Gastroenterology

BACKGROUND & AIMS: To examine whether quantitative pathologic analysis of digitized hematoxylin and eosin slides of colorectal car..

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer

James M Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Romy Walker, Julia Como, Jihoon E Joo, Susan Preston, Ryan A Hutchinson, Bernard J Pope, Andrew Metz, Catherine Beard, Rebecca Purvis, Julie Arnold, Varnika Vijay, Galina Konycheva, Nathan Atkinson, Susan Parry, Mark A Jenkins, et al.

Journal article  |  2021  |  FAMILIAL CANCER

Germline loss-of-function variants in AXIN2 are associated with oligodontia and ectodermal dysplasia. The association between colo..

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

Peter Georgeson, Bernard J Pope, Christophe Rosty, Mark Clendenning, Khalid Mahmood, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Susan Preston, Julia Como, Sharelle Joseland, Aung Ko Win, Finlay A Macrae, John L Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M Sieber, Dylan E O'Sullivan, Darren R Brenner, Steve Gallinger, et al.

Journal article  |  2021  |  GUT

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene MUTYH un..

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome

Bernard J Pope, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Harindra Jayasekara, Sharelle Joseland, Julia Como, Susan Preston, Amanda B Spurdle, Finlay A Macrae, Aung K Win, John L Hopper, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan

Journal article  |  2021  |  JOURNAL OF MOLECULAR DIAGNOSTICS

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or so..