Khalid Mahmood

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..

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Munoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocana, Marcos Diaz-Gay, Sebastia Franch-Exposito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernandez, Aranzazu Diaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris BAW te Paske, Yasmijn J van Herwaarden, Antoni Castells, et al.

Journal article  |  2022  |  JOURNAL OF MEDICAL GENETICS

BACKGROUND: Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for..

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..

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

Claire Palles, Hannah D West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E Grolleman, Erik AM Jansen, Helen Curley, Laura Chegwidden, Edward H Arbe-Barnes, Nicola Lander, Rebekah Truscott, Judith Pagan, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg, et al.

Journal article  |  2022  |  AMERICAN JOURNAL OF HUMAN GENETICS

We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline varian..

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..

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..

DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer

Jihoon E Joo, Mark Clendenning, Ee Ming Wong, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Ingrid M Winship, Susan G Preston, Aung Ko Win, Pierre-Antoine Dugue, Harindra Jayasekara, Dallas English, Finlay A Macrae, John L Hopper, Mark A Jenkins, Roger L Milne, Graham G Giles, Melissa C Southey, Daniel D Buchanan

Journal article  |  2021  |  CANCERS

We investigated aberrant DNA methylation (DNAm) changes and the contribution of ageing-associated methylomic drift and age acceler..

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..

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

Fadwa A Elsayed, Judith E Grolleman, Abiramy Ragunathan, Daniel D Buchanan, Tom van Wezel, Richarda M de Voer

Journal article  |  2020  |  GASTROENTEROLOGY