Cancer
Refined Clinical Criteria Needed for Attenuated Li-Fraumeni Syndrome Phenotypes
Li-Fraumeni syndrome, a hereditary cancer syndrome associated with TP53 gene mutations, poses a challenge in classification due to disease-causing variants with lower than average penetrance. Research conducted to identify TP53 variants flagged as having reduced penetrance by genetic testing laboratories and analyzed their functional, bioinformatic, frequency, and clinical features. The