Novel genetic risk markers identified in pancreatic cancer

Pancreatic cancer is one of the most causes of cancer-related death in the United States. While there has been minimal progress regarding cancer-specific outcomes in recent decades, effective biomarkers are a promising tool that will undoubtedly have an important role in the management of patients with pancreatic cancer.

As reported, a large DNA analysis of people with and without pancreatic cancer has identified several novel genetic markers that reflect increased risk of suffering the highly lethal disease. The discovery of these markers is important in identifying people at risk and in interpreting susceptibility to pancreatic cancer.

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 Explore disease-causing gene mutations

Investigators used sequencing technology to examine more than 700,000 sites of the genome known to have single nucleotide polymorphisms (SNPs). They then looked for variants that are likely to be associated with the alteration of gene expression, and found 5 new risk markers, along with 4 risk-associated SNPs identified previously.

Previously approved by the Food and Drug Administration, serum CA-19-9 (carbohydrate antigen 19-9) is utilized for pancreatic cancer as a prognostic marker and as a marker of disease recurrence.

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.

Reference:

Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Nature Genetics, 2014

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