Genetic Profiling of Skin Cancers: Implications for Targeted Therapies

Abstract

Skin cancer is a common and growing global health problem that has many different subtypes, each of which has its own aetiology and genetic makeup. The three most common kinds of skin cancer are melanoma, squamous cell carcinoma (SCC), and basal cell carcinoma (BCC), and new genetic research has revealed a spectrum of genetic variants underpinning their genesis and spread. BRAF and NRAS mutations play major roles in melanoma, activating important carcinogenic pathways and offering important therapeutic targets. The development of immune checkpoint inhibitors and BRAF inhibitors has altered melanoma treatment paradigms, improving patient outcomes. SCC has unique genetic characteristics that promote unchecked cell proliferation and differentiation, including TP53 and NOTCH1 mutations. Immune checkpoint inhibitors like pembrolizumab and treatments that modulate the NOTCH pathway have potential for the treatment of SCC. The PTCH1 and SMO gene mutations that activate the Hedgehog pathway and create the distinctive genomic landscape of BCC. The therapy of BCC has been transformed by hedgehog pathway inhibitors like vismodegib, which provide a personalised method based on genetic profiles. Our understanding of the molecular pathways behind skin malignancies has grown thanks to genetic profiling, which also has implications for early detection and prognosis evaluation. Genetic markers support accurate diagnosis, aid in risk assessment, and direct individualised treatment plans. There are still difficulties including intra-tumoral heterogeneity and resistance to targeted therapy. The dynamic science of genetics is still developing, giving rise to optimism for more individualised and efficient ways to treat skin cancers and, ultimately, lessening the burden of these malignancies.