A breakthrough in an Australian-led international cancer research effort offers new hope in identifying those at risk of developing neuroendocrine pancreatic cancer.
The study involved researchers carrying out genome sequencing of tumours from 100 Australian patients through the Australian Pancreatic Cancer Genome Initiative (APCGI).
Professor Sean Grimmond, the University of Melbourne's Bertalli Chair of Cancer Medicine, said that its findings marked the final chapter as a part of a larger international effort in which an atlas was being created of the mutations responsible for causing each and every major type of pancreatic cancer.
"Neuroendocrine cancer is a sub-type which occurs in the pancreas -- a very complicated organ -- with a number of roles," Grimmond told The Huffington Post Australia.
"[The] tumours arise in a variety of cells within the pancreas that are involved in making hormones like insulin as well as a wide variety of factors."
Out of the 3000 cases of pancreatic cancer diagnosed in Australia each year, pancreatic neuroendocrine tumours (PanNETs) account for 2 percent.
Grimmond noted that the study found that as many as one in five patients with PanNETs had a clearly identified genetic predisposition for the cancer, without there having been any history of the disease in their family.
Most surprising was the discovery that these genes, which were previously known to predispose individuals to breast and rare forms of colon cancer, were also present in the DNA of patients with neuroendocrine pancreatic cancer.
"We found that the MUTYH and BRCA2 gene mutations, normally associated with colon and breast cancers, also appear to play an important role in PanNETs," he said.
"For this rare cancer we now have a good blue print and, to our surprise, found one in five patients had inherited a mutation in their DNA -- it's in every one of their cells -- and we have evidence it is predisposing them to the development of their tumour.
"This raises exciting possibilities for how we treat this disease in the future.
"Once you have a predisposition gene, it is very valuable to understand which tissues are vulnerable to getting a tumour."
While patients with PanNETs often have a better prognosis than those diagnosed with other forms of pancreatic cancer, this particular group of tumours is highly volatile, according APCGI's senior research officer, Amber Johns.
"Doctors currently face the challenge of being unable to tell apart patients who would benefit from early aggressive therapy from those who might be spared harsh treatment for less invasive cancers," she said.
The research is the product of Australia's latest contribution to the International Cancer Genome Consortium, formulating atlases of each cancer type and mapping out all of the mutations which lead to cancer development in hundreds of thousands of patients.Suggest a correction