Younger People With Merkel Cell Carcinoma Often Carry Genetic Risk Factors for Other Cancers

Description

Merkel cell carcinoma is an aggressive skin cancer that occurs when nerve-like cells that produce hormones (called neuroendocrine cells) grow out of control. The disease is rare in people under age 50. Genetic screenings of people with early onset Merkel cell carcinoma show that 19 percent (7/37) had well-described variants in genes associated with an increased likelihood of cancer development, including ATM, BRCA1, BRCA2, TP53, and MAGT1. In addition, more than half of these early onset participants had previously undescribed changes in genes responsible for fixing errors in DNA. These results suggest that people who develop Merkel cell carcinoma before age 50 should be referred for genetic counseling and testing to look for inherited cancer risk variants, as they and their families may be at an increased risk for other cancer types.

What is exciting about this article?

This is the first study to indicate that variants in certain DNA repair and cancer predisposition genes are associated with early onset Merkel cell carcinoma. The results suggest that patients with these well-defined variants in cancer-predisposition genes should be screened for early onset Merkel cell carcinoma. The connection between DNA repair gene variants and Merkel cell carcinoma risk remains to be explored.

Grant support 

ZIAAR041222