EXPANDING DIAGNOSTIC APPROACHES FOR LYNCH SYNDROME
Grant number: 1125269 | Funding period: 2017 - 2019
Currently, there are ~1,000 families who have attended Family Cancer Clinics across Australia who have the hallmarks of having Lynch syndrome, a hereditary bowel cancer syndrome, but who have no gene defect identified, i.e. their cancer is unexplained. Clinicians are challenged by these “Lynch-like” patients as their family cancer risk is unknown. Our research has identified new gene defects in Lynch-like patients. Our aim is to optimise clinical testing approaches for Lynch-like patients.
Related publications (4)
“Left in limbo”: Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis
Nicole den Elzen, Sharelle L Joseland, Sibel Saya, Sowmya Jonnagadla, Joanne Isbister, Ingrid Winship, Daniel D Buchanan
<jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>A diagnosi..
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
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
Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or so..
Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening
Fleur Hammet, Khalid Mahmood, Thomas R Green, Nguyen-Dumont Tu, Melissa C Southey, Daniel D Buchanan, Andrew Lonie, Katherine L Nathanson, Fergus J Couch, Bernard J Pope, Daniel J Park
We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencing libraries that offers a low-..