A small retrospective study has identified a typical genetic variant of a certain pancreatic cancer. Some patients with a particular pancreatic duct lesion have the same hereditary mutation. Researchers believe this variant could contribute to the development of the tumor. Consequently, by identifying it in time, we could intervene with much more specific treatments.

The discovery comes from the team of Dr. Nicholas Roberts, of the Johns Hopkins University School of Medicine. The aim was to verify the presence of inherited mutations among those at risk of cancer. Thus the role of genetics in the development of a specific type of pancreatic cancer, pancreatic ductal adenocarcinoma has emerged. The form of cancer studied is the third most lethal in the United States. The 5-year survival rate is around 8% and tumors develop from non-invasive lesions. In particular, about 70% of the pancreatic duct lessons become malignant, but how it is still unclear.

According to the study, about 5% of patients with these lesions are carriers of the same genetic mutation. The team of researchers examined the DNA of non-tumor duct lesions, taking the tissue from 315 patients. They have sequenced 94 genes in search of mutations associated with cancer risk. Of the patients, 23 had the same mutation in one or two genes; 9 patients had the mutation in a gene linked to pancreatic cancer.

Comparing the data with those of the incidence of the tumor, it was found that the mutation in three specific genes is linked to a higher rate of pancreatic ductal adenocarcinoma. Patients with this hereditary mutation are more likely to get sick than those who do not.

Source: hopkinsmedicine.org