Using a two-stage genome-wide association study of pancreatic cancer, researchers have now identified four regions in the human genome where changes may increase the risk of pancreatic cancer.

The newly identified genetic variants are located at several positions on human chromosomes and now point the way to potential new avenues of treatment. In addition, these new findings could lead to new methods of early detection screening.

“By better understanding the etiology of pancreatic cancer we can develop treatments or chemo[therapy] prevention agents to target these pathways,” said study investigator Alison Klein, PhD, who is an associate professor of oncology at the Johns Hopkins University School of Medicine in Baltimore, MD.

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She said by combining these new genetic findings with data for other pancreatic cancer risk factors it may become possible to identify and screen high-risk groups.

Results of the genomic analysis, which were published online in Nature Genetics, included genetic information from 9,925 patients with pancreatic cancer and 11,569 healthy individuals.1

Some of the samples were newly genotyped and others were analyzed from already published data. The newly genotyped blood samples were obtained over a period of 4 years from eight medical centers in North America, central Europe, and Australia.

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The researchers identified genetic variants located on several chromosomes including position 17q25.1, which may increase cancer risk by 38% for each copy that is present in the genome. The researchers reported that position 7p13 may increase the risk by 12% and position 3q29 may increase the risk by 16%.

The researchers also pinpointed position 2p13.3, which was previously linked with pancreatic cancer risk in a study of Han Chinese people. The current study provides more definitive evidence that position 2p13.3 may increase pancreatic cancer risk by as much as 14%.  

Dr. Klein and colleagues noted a connection between pancreatic cancer risk and variation in the TP63 gene. Other studies have suggested the TP63 variations are related to lung and bladder cancers as well as other cancers.

Dr. Klein said the large number of pancreatic cancers in the current analysis gave the study more power to find more novel genes.

“Our work adds to a growing body of evidence suggesting inherited variation in p63 is important in cancer risk. Further studies are needed to understand the mechanism underlying this association.

However, understanding how this variation in p63 acts to increase cancer risk could lead to better treatments or prevention,” Dr. Klein told Cancer Therapy Advisor.