A collaborative work between researchers from the Medical College of Wisconsin (MCW) and the Genetic Epidemiology of Lung Cancer Consortium (GELCC) identified a gene that links early-onset Parkinson’s disease and familial lung cancer. The study entitled “A Recurrent Mutation in PARK2 Is Associated with Familial Lung Cancer” was published in American Journal of Human Genetics.
Lung cancer is responsible for 17% of all cancer-related deaths worldwide. The malignancy has a very poor prognosis and its incidence and death rates are around 5 million cases per year. Cancer cells acquire genetic defects that induce uncontrolled cell growth and ultimately lead to cellular invasion to different areas of the body (metastases).
The research team performed whole exome sequencing, a technique that sequences all protein-coding genes in the genome (exomes), and identified a link between a mutation in the parkin RBR E3 ubiquitin protein ligase (PARK2) gene and familial lung cancer. Researchers sequenced the exomes from a family with several cases of lung cancer and studied the PARK2 gene in other families with lung cancer. PARK2 is associated with early-onset Parkinson’s disease and acts as a tumor suppressor gene in human malignancies. The results showed a heritable mutation in the PARK2 gene in a family with eight cases of lung cancer.
Study author Dr. Donghai Xiong explained in a news release that this specific mutation found in families with several cases of lung cancer is very uncommon in the general population.
Dr. Ming You, Director of the MCW Cancer Center and co-author of the study, said that these findings suggest a heritable PARK2 mutation as a genetic susceptibility factor for lung cancer. He added that this data could be the starting point for further studies focusing on the development of targeted therapies against lung cancer in subjects carrying PARK2 genetic variants.
