A3 Refereed book chapter or chapter in a compilation book
Genomic Diagnostics in Precision Skin Cancer Treatment
Authors: Verma, Ashish; Sunita; Sharma, Akhil; Sharma, Shaweta; Singh, Pankaj Kumar; Sharma, Akanksha
Editors: Sharma, Akhil; Sharma, Shaweta; Fuloria, Shivkanya; Kumar, Sudhir
Publisher: BENTHAM SCIENCE PUBLISHERS
Publication year: 2025
Book title : AI and IoT-Enhanced Skin Cancer Detection and Care (Part 2)
First page : 69
Last page: 103
ISBN: 979-8-89881-199-0
eISBN: 979-8-89881-198-3
DOI: https://doi.org/10.2174/9798898811983125010006
Publication's open availability at the time of reporting: No Open Access
Publication channel's open availability : No Open Access publication channel
Web address : https://doi.org/10.2174/9798898811983125010006
Skin cancer is the most common type of cancer, whereby genomic alterations contribute to both its pathogenesis and evolution as well as its response to treatment. Genomic diagnostics play a crucial role in aiding the precise management of skin cancers based on the detection of mutations or genomic alterations that guide targeted treatment. The chapter outlines the clinical presentation of these skin cancers and their genomic landscape, highlighting important genotype-specific alterations such as BRAE NRAS and CDKN2A mutations in melanoma, PTCH1, SMO, and TP53 mutations in BCC and HRAS, NOTCH1, and combined gene inactivation in SCC. It also reviews copy number variations (CNVs) closely related to the development of different skin cancers. The area of genomic profiling has advanced over the years, with techniques such as next-generation sequencing (NGS), liquid biopsies, and targeted gene panels that are able to provide a comprehensive look into informative genetic alterations non-invasively. The technologies allow for early detection, quantitating response to systemic therapy, and uncovering mechanisms of resistance, which altogether can promote better therapeutic success. Genomic diagnostics play a pivotal role in the treatment of personalized strategies based on genome markers; nowadays, doctors can make therapies according to genetic profiles. Molecular profiling enhances early detection and diagnosis, which results in timely interventions and better prognoses. By sequencing treatment response and resistance mechanisms, we gain realtime insight into the evolution of tumor behavior and can develop adaptive therapeutic strategies that respond to those changes. Genomic diagnostics have an important role to play both in risk assessment and prognosis of diseases by detecting the presence or absence of genetic markers associated with aggressive behavior, which can then be used to classify patients according to their risk profile.
