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Australian researchers identify genetic mutation responsible for rare pancreatic cancer

Xinhua, February 16, 2017 Adjust font size:

Australian researchers have discovered that genetic changes usually linked to breast, ovarian and colon cancer can also cause a rare type of pancreatic cancer.

The study, published by the University of Melbourne on Thursday, found that as many as one in five patients with pancreatic neuroendocrine tumors (PanNETs) had a genetic predisposition for their cancers despite having no family history.

Sean Grimmond, the co-leader of the study from the University of Melbourne and Chair of cancer Medicine at the university, said the discovery offered hope of one day being able to identify people at risk of contracting those cancers.

The breakthrough is the result of a collaboration between the University of Melbourne, Garvan Institute of Medical Research, QIMR Berghofer Medical Research Institute, the University of Queensland and the Childrens Medical Research Institute as well as teams from Europe and the United States.

They carried out genome sequencing of tumors from 100 Australian patients recruited through the Australian Pancreatic Cancer Genome Initiative (APGI).

Grimmond said the team was surprised to find similarities between the genetic drivers of PanNETs and other cancers.

"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," Grimmond said in a media release on Thursday.

"This raises exciting possibilities for how we treat this disease in the future."

Nicola Waddell, the leader of Queensland's QIMR Berghofer's contribution to the study, said that people without a family history of cancer could still carry the faulty gene that increases the risk of developing PanNETs.

"The genetic variants we've identified may help to predict how aggressive each patient's tumor is and what sort of treatment they're likely to benefit from," she said.

"In the future, patients at risk of this rare pancreatic cancer could be identifiable through genetic screening."

PanNETs account for two per cent of the 3000 cases of pancreatic cancer diagnosed in Australia every year. Endit