Wednesday 27 March 2019 | Melbourne
This UMCCR seminar by Dr Ian Frayling, Consultant in Genetic Pathology, Institute of Medical Genetics, University Hospital of Wales, will be held on Wednesday 27 March 2019 at the Victorian Comprehensive Cancer Centre from 10.30–11.30 am.
For more details and to register, visit the event web page.
The value in looking for and observing patterns is obvious to all regardless of their discipline. However, while there is value in individual observations, seeing patterns across many observations can add considerably to our understanding and thus benefit patients. There is particular value in studying those individuals who are especially prone to cancer as this tells us important things about both them and cancer in general.
Nearly 20 years ago it was shown that there was an extra facet to Knudson’s simple two-hit loss-of-function model of tumour suppressor genes. Study of patients with Familial Adenomatous Polyposis showed a genotype-phenotype relationship: that the position within the gene of their inherited mutation was a strong determinant in where the second (or even third) somatic mutation occurred, and was thus a major determinant/modifier of FAP severity. More recently, we have shown that Neurofibromatosis type 1 patients who develop breast cancer are more likely to have inherited mutations which confer a gain of function on the neurofibromin protein, and conversely, patients with whole or even partial gene deletions have a low risk of breast cancer. Thus, in these two tumour suppressors, at least, gain-of-function applies as much as loss, and the implications of this in other cancer genetic conditions will be discussed.
Lamlum H, et al. (1999) Nature Medicine 5:1071-1075.
Frayling IM, et al. (2018) Journal of Medical Genetics doi: 10.1136/jmedgenet-2018-105599
Dr Ian Frayling qualified in Clinical Medicine at Cambridge. He is the only Genetic Pathologist in NHS service.
In 1993 he established gene and tumour testing for hereditary bowel cancer at St Mark’s Hospital. He now concentrates on gene variant interpretation, genotype-phenotype correlations, and systematic testing of incident cancers to identify hereditary cases. He is an Honorary Senior Clinical Research Fellow in the Inherited Tumour Syndromes Research Group at Cardiff University, and an Honorary Medical Adviser to Lynch Syndrome UK, as well as a member of InSiGHT Council, and a Visiting Chief Investigator at Cancer Council New South Wales.
Ian has been conferred with Honorary Fellowship of the Faculty of Pathology of the Royal College of Physicians of Ireland, and is a recipient of both the Association of Clinical Pathologists Dyke Foundation Medal and the Pathological Society of Great Britain and Ireland’s Goudie Medal for his “seminal contribution to the science of pathology.”