Finding better ways to test for rare cancers

Background

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.

The research

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.