UNSW Sydney (Garvan Institute of Medical Research at time of award)2015−2017
Using the latest approaches to genomic sequencing, Associate Professor Marcel Dinger and his team are working to identify genes that contribute to rare head and neck cancers. The gene panel they have developed will offer advanced diagnostic testing options for many patients and their families.
Thanks to extensive research efforts, our understanding of common cancers has grown over past decades. Diagnosis, treatment and outcomes have improved for diseases like breast and prostate cancer. Patients can even receive personalised care thanks to targeted gene testing, which is becoming a standard of clinical care for many people.
The picture is different for rare cancers, such as those that occur in the head and the neck. Because there are fewer people affected by these rare tumours, there is a lack of diagnostic and treatment options, leading to very poor patient outcomes.
If genetic testing that uses pre-selected sets of relevant genes (called ‘gene panels’) can be offered, doctors could deliver better preventative measures and get patients early treatment.
Associate Professor Dinger and his team have used cutting-edge genome sequencing techniques to identify genes that contribute to lesser-known cancers.
They have developed a new gene panel consisting of 452 genes, in rare head and neck cancers and additional cancers, that could be related to cancer development.
The researchers have screened the genomes of patients with pituitary tumours and have identified several mutations that appear to play a role in this disease.
Circulating tumour DNA (ctDNA) that is released from dead tumour cells can provide clinicians with real-time information about the tumour. Using their gene panel, the team used ctDNA from a patient who was in remission to identify the best treatment option if they were to relapse.
The launch of their gene panel can allow rapid diagnosis, identification, treatment options and prognoses for patients in a wide variety of cancers.
For patients at risk of rare cancers, such as aggressive tumours that can affect salivary glands, the oesophagus and the pituitary gland, having access to genetic testing would offer a chance of early intervention and potentially more individualised therapy. Having these advanced options holds potential to improve quality of life for many people with lesser-known cancers.
Associate Professor Marcel Dinger
(Garvan Institute of Medical Research at the time of award)
Professor Sandra O’Toole
Dr Ann McCormack
Dr Mark Cowley
Associate Professor Richard Harvey
Associate Professor Ruta Gupta
Dr Mark McCabe