CDKN2A and cancer: Some of these include a novel missense mutation (p.G32R) in the BRAF gene, suggesting dysregulation of the MAPK pathway, stop-gain mutations in key genes (ARID1A, NRBPI, AKT3), known mutations in cancer-related genes GATA3 and CDKN2A and a nonsense mutation in the gene XPC (RAD4) involved in NER, indicating a defect in DNA repair.