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Genome-Wide Association Study Finds New Genetic Risk Markers in Pancreatic Cancer

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Key Points

  • A genome-wide association study confirmed the presence of four risk-associated SNPs that had been previously identified and discovered five new risk markers.
  • The risks linked to each SNP were largely independent and additive, so that they may have utility in future attempts to identify individuals in the general population at higher risk for pancreatic cancer.
  • The long-term goal of the study is to create a risk stratification tool that could be used to identify individuals who should undergo screening for pancreatic cancer.

A large DNA analysis of people with and without pancreatic cancer has identified several new genetic markers that signal increased risk of developing the highly lethal disease, reported scientists from Dana-Farber Cancer Institute. The study by Wolpin et al was published in Nature Genetics.

The markers are variations in the inherited DNA code at particular locations along chromosomes. Several of these variations in the DNA code were identified that influence an individual’s risk for pancreatic cancer.

Potential for New Pancreatic Cancer Screening Strategies

The discovery of these markers—along with four that were previously identified is important for several reasons, said Brian Wolpin, MD, MPH, first author of the report.One is that further study of these DNA variants may help explain on the molecular level why some people are more or less susceptible to pancreatic cancer than the average person. A second is the potential to identify people at increased risk who then might be candidates to undergo MRI or ultrasound scanning to look for early, treatable pancreatic tumors.

“Currently there is no population screening program for pancreatic cancer, which in 80% of cases is discovered when it’s too late to allow curative surgery—the cancer has already spread,” said Dr. Wolpin.

The only healthy individuals currently screened for pancreatic cancer are members of high-risk families due to multiple family members with pancreatic cancer. “But the field has been struggling to find factors that can identify people at highest risk in the general population, when a strong family history is not present,” Dr. Wolpin said.

Study Details

The study findings represent analyses of DNA from 7,683 patients with pancreatic cancer and 14,397 control patients, all of European descent, from the United States, Europe, Canada, and Australia. The scientists used sequencing technology to examine more than 700,000 sites of the genome known to have single nucleotide polymorphisms (SNPs). These variations can alter the expression of a gene or the content of its message, and the researchers looked for variants that were associated with the risk of having pancreatic cancer in a genome-wide association study.

Dr. Wolpin said the results confirmed the presence of four risk-associated SNPs that had been identified in a previous, smaller genome-wide association study. In addition, five new risk markers were discovered and a sixth that was of borderline statistical significance.

The risks linked to each SNP or marker were largely independent and additive, so that they may have utility in future attempts to identify individuals in the general population at higher risk for pancreatic cancer. The average lifetime risk of pancreatic cancer is 1.5%.

The long-term goal is to create a risk stratification tool that could be used in primary care practice to identify individuals who should undergo screening for pancreatic cancer with tests such as ultrasound or MRI.

Rachael S. Stolzenberg-Solomon, PhD, MPH, RD, and Laufey T. Amundadottir, PhD, of the National Cancer Institute, are the corresponding authors for the Nature Genetics article.

The project was funded in part by the National Cancer Institute of the National Institutes of Health and the Lustgarten Foundation.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.


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