Multiple Genetic Changes Linked to Increased Pancreatic Cancer Risk

A genome-wide association study, believed to be the largest of its kind, has uncovered four regions in the human genome where changes may increase the risk of pancreatic cancer.

Patients with pancreatic cancer are also often diagnosed at late stages of the disease, making it tougher to identify genetic risk factors, even though it is the fourth leading cause of cancer death in the USA, but it is not as commonly diagnosed as other cancers, such as breast or colorectal cancer.


A large team of international scientists led by those associated with Johns Hopkins School of Public Health (Baltimore, MD, USA) performed a genome-wide association study on 9,925 pancreatic cancer cases and 11,569 controls, including 4,164 newly genotyped cases and 3,792 controls in nine studies from North America, Central Europe and Australia. Genotyping results were inspected for quality by assessing the missing call rate, allelic imbalance, heterozygosity, discordance in reported versus genotyped sex, relatedness, ancestry, and chromosomal anomalies.

The team identified genetic variants are located at several positions on human chromosomes, including position 17q25.1, which may increase cancer risk by 38% for each copy that is present in the genome; position 7p13, which may increase the risk by 12%; and position 3q29, which may increase the risk by 16%. Position 2p13.3, another genetic region pinpointed in the study, was previously linked with pancreatic cancer risk in a study of Han Chinese people, and the current study provides more definitive evidence of different genetic changes in that region believed to increase pancreatic cancer risk by 14%.

Alison Klein, PhD, an associate professor of oncology and co-author of the study, said, “These variants are common in the population, and most individuals who have these variants will never develop pancreatic cancer in their lifetime. However, identifying and understanding these changes can lead to a better understanding of why some people develop pancreatic cancer. If we combine this information with data on other pancreatic cancer risk factors, we may be able to identify and one day screen high-risk groups. If we can identify high-risk populations, we can eventually get to the point where we can detect pancreatic cancer early, when the disease is most treatable, and save lives.” The study was published on June 22, 2015, in the journal Nature Genetics.

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