St. Jude scientists have discovered new germline variations in a tumor suppressor gene called TP53. Children with these variants are at risk of developing leukemia. They also have a one-in-four chance of developing another cancer later in life.
Germline variations are carried in the DNA of every cell, not just in the DNA of tumor cells.
“These germline variations are a double whammy for carriers,” said Jun J. Yang, PhD, of the St. Jude departments of Pharmaceutical Sciences and Oncology. “Not only is their risk of developing leukemia very high, they are also more likely to relapse or develop another cancer subsequently.”
The association between the high-risk variants and second cancers is so significant that researchers are exploring how to help patients and families manage their risk.
A report on this study appeared in the Journal of Clinical Oncology.