Mark Clendenning

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..

Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study.

Emma Anthony, Jeanette C Reece, Elasma Milanzi, Jihoon E Joo, Sharelle Joseland, Mark Clendenning, Amanda Whelan, Susan Parry, Julie Arnold, Varnika Vijay, Nathan Atkinson, John L Hopper, Aung K Win, Mark A Jenkins, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Daniel D Buchanan, undefined Australasian Coloretal Cancer Family Registry, undefined Family Cancer Clinics of Australia, et al.

Journal article  |  2022  |  BMC Gastroenterol

OBJECTIVE: The unknown aetiology of Serrated Polyposis Syndrome (SPS) impedes risk prediction and prevention. We investigated risk..

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..

Informed choice and attitudes regarding a genomic test to predict risk of colorectal cancer in general practice

Sibel Saya, Jennifer G McIntosh, Ingrid M Winship, Shakira Milton, Mark Clendenning, Mary Kyriakides, Jasmeen Oberoi, Daniel D Buchanan, Mark A Jenkins, Jon D Emery

Journal article  |  2022  |  PATIENT EDUCATION AND COUNSELING

OBJECTIVE: A genomic test to predict personal risk of colorectal cancer (CRC) that targets screening and could be feasibly impleme..

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..

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Mark A Jenkins

Journal article  |  2021  |  LANCET ONCOLOGY

BACKGROUND: Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome..

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..

Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer

Mark A Jenkins, Daniel D Buchanan, John Lai, Enes Makalic, Gillian S Dite, Aung K Win, Mark Clendenning, Ingrid M Winship, Richard B Hayes, Jeroen R Huyghe, Ulrike Peters, Steven Gallinger, Loic Le Marchand, Jane C Figueiredo, Rish K Pai, Polly A Newcomb, James M Church, Graham Casey, John L Hopper

Journal article  |  2021  |  JNCI CANCER SPECTRUM

It was not known whether the polygenic risk scores (PRSs) that predict colorectal cancer could predict colorectal cancer for peopl..