Monday Lunch Live
31 March 2025 (Video recording below)
Lynch syndrome is the most common hereditary cancer syndrome affecting approximately 1 in 280 people. The current testing methods and triaging approach used to detect Lynch syndrome in colorectal or endometrial cancer-affected people still leaves many with uncertainty as to whether their cancer was inherited or had a sporadic aetiology, leaving patients in-limbo as to their diagnosis and risk of subsequent cancer.
This webinar discusses the research that has helped to uncover important causes of DNA mismatch repair deficiency including biallelic somatic mismatch repair gene mutations and post-zygotic mosaicism. It demonstrates the effectiveness of a tumour-focused testing approach, which reclassified >85% of suspected Lynch syndrome cases into clinically actionable subtypes.
Dr Walker will also share novel methods developed to classify variants of uncertain clinical significance in the DNA mismatch repair genes. Together, the research has improved the diagnosis of Lynch syndrome, enabling more personalised, risk appropriate clinical management for the patient and their family members.
Chair
A/Prof. Daniel D. Buchanan
Head of the Colorectal Oncogenomics Group
A/Prof Buchanan leads a multi-disciplinary research program focused on understanding the causes of colorectal cancer to inform precision prevention and early detection. The ANGELS and Genetics of Colonic Polyposis Studies use genomics to identify the aetiology of young-onset colorectal cancer, and idiopathic polyposis cases that remain a significant clinical challenge.
He is a senior member of the leading international colorectal cancer studies, the Colon Cancer Family Registry (CCFR), and the Genetic Epidemiology of Colorectal Cancer Consortium (GECCO). A/Prof Buchanan is also an NHMRC Emerging Leadership Investigator Fellow and a University of Melbourne Dame Kate Campbell Fellow. He holds an honorary appointment within the Genomic Medicine and Familial Cancer Centre at the Royal Melbourne Hospital, contributing to a multidisciplinary approach to the diagnosis and risk management of hereditary cancer and colonic polyposis. He is committed to the translation of research into clinical practice, as a member of the National eviQ Cancer Genetics Reference Committee. integration of irAE risk prediction into clinical cancer services.
Speaker
Dr Romy Walker
Research Fellow, Colorectal Oncogenomics Group, the University of Melbourne
Dr Walker is an Early Career Researcher (two years post-PhD) working in the Colorectal Oncogenomics Group in the Department of Clinical Pathology within the Collaborative Centre for Genomic Cancer Medicine. Her current research focuses on establishing novel diagnostic approaches for risk stratification of individuals with DNA mismatch repair-deficient cancer with the aim of translating high-impact research into clinical practice and patient care. She is passionate about the integration of genomic data into improving our understanding and treatment of bowel cancer.
Dr Walker is an active member of the ClinGen DNA mismatch repair gene Working Group providing expertise in biocuration of variants of unknown clinical significance. Since completion of her PhD in 2023, she was the recipient of several awards, including the University of Melbourne Early Career Researcher Grant, the Melbourne Medical School Publication Prize, the BGI Genomics ANZ Genetic Service Grant, HGSA COSA Cancer SIG Professional Development Grant, GESA AGW Poster of Merit, GeoMX DSP Grant, QIAseq UPX Research Award and recipient of several travel grants.
Resource details
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