Individuals may face a higher hereditary risk for developing pancreatic cancer if they carry abnormalities in the so-called “ATM” (ataxia telangiestasia mutated) gene, new research reveals.

Researchers from Johns Hopkins University and Mayo Clinic in the USA used whole-genome and whole exome analyses to isolate ATM gene mutations from individuals affected by pancreatic cancer who had at least three family members who had also had the disease.

The finding, reported in a recent issue of Cancer Discovery [1], stems from genetic-sequencing work conducted among 166 pancreatic cancer patients. For comparative purposes, 190 other individuals who did not have pancreatic cancer also underwent sequencing.

Hereditary pancreatic cancer occurs in around 5 to 10 per cent of all pancreatic cancer cases but the hereditary predisposition in the vast majority of cases is unknown. This is the first study to show a heritable trait partly responsible for this predisposition. Other mutations in the BRCA2, PALB2, CDKN2A and STK11 genes have previously been identified in the minority of cases of familial pancreatic cancer [2]

In a press release from the American Association for Cancer Research the scientist leading the study, Dr Alison Klein said, “there was significant reason to believe this clustering was due to genetics.” But she added that no previous effort had “been able to find the causative genes that explained the cluster of pancreatic cancer for a majority of these families.”

Among the pancreatic cancer patients examined, four were found to have the ATM gene mutation. By contrast, none of the healthy individuals who were sequenced carried the abnormality, according to the report.

Ultimately, the finding could lead to the development of a new screening option for pancreatic cancer. However currently there is no screening method for pancreatic cancer although endoscopy is being evaluated as a screening tool in clinical trials.

[1] Roaberts et al., (2011) ATM Mutations in Patients with Hereditary Pancreatic Cancer. Cancer Research 2 (1) OF1-OF6

[2] Shi et al., (2009) Familial Pancreatic Cancer. Arch Pathol Lab Med vol 133 pp 365-74