COL2A1 and Cowden syndrome 1: However, recent advances in genomic and epigenomic profiling have uncovered recurrent genetic alterations in CS, including copy number variations (CNVs) involving MYC, CDK4, and CDKN2A; mutations in IDH1/2, TP53, and COL2A1; and fusion genes such as HEY1-NCOA2 and IRF2BP2-CDX1, alongside key epigenetic and metabolic changes.