About neglected cancers

Cancer is usually considered a disease of older people, with diagnosis increasing with age for most cancers. Uncommon cancers, however, occur more frequently for younger people, and in every age group – from Baby Boomers to Millennials and even children – they are the most common cause of disease-related death in Australia.

Using whole-genome sequencing to research deeply into our DNA has led to the discovery that all cancers are linked to harmful genetic variants, so that instead of treating disease symptoms, we can now target the genetic variants causing them.

Recent research has shown that if a person carries two or more rare mutations their risk of cancer increases.

The landscape of cancer risk is far more complex than we had previously imagined. We can now see that the risk for developing a cancer may be due to the combined effect of multiple genes, and that the more mutations you carry, the earlier the onset of cancer.

The better we understand the genetic drivers that give a person an increased risk of cancer, the more precisely we can match individuals with the best possible treatment for them.

While major advances in screening, diagnosis and treatment have been made for common cancers, this isn’t the case for uncommon cancers, which continue to present diagnostic and therapeutic challenges.

Our clinical ability to recognise new patients when they present with an uncommon cancer remains limited. As a result, these patients are commonly misdiagnosed and may face long delays before receiving the correct diagnosis and the most appropriate treatment from among the limited treatment options.

Unfortunately, this usually leads to a very poor prognosis.

This content is provided for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. If you have any concerns or questions about your health, please consult a suitably qualified healthcare professional.

Deaths from common cancers have fallen over the last two decades, but the incidence and mortality from uncommon cancers are actually rising. Difficulties with diagnoses, less effective standard treatments, and reduced access to new therapies mean a patient with an uncommon cancer is almost twice as likely to die as a patient with a common cancer.

With recent advances in genomics (the study of the interplay between all our genes together and with our habits and our environment), we can now identify the genetic changes responsible for cancer growth, and molecular information from tumours can be used to match individual patients with targeted treatments. The arrival of cancer immunotherapies that harness the body’s own cancer-killing processes has further increased the range of therapeutic options available.

There is excellent evidence to show that participation in clinical trials is associated with better outcomes for people with uncommon cancers, with governments also using the information from trials in their decisions to fund new drugs. Until now it has not been feasible to run clinical trials for the small numbers of people with one uncommon cancer, forcing many patients to self-fund expensive medical treatments.

At Garvan, Professor David Thomas, Director of The Kinghorn Cancer Centre and Head of the Genomic Cancer Medicine Laboratory, and his colleagues, are devising new types of clinical trials and other innovative studies to try to improve the treatment options for people with less common, high-mortality cancers.