Related Experiment Video
Updated: Aug 6, 2025
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
24.5K
Age-related next-generation sequencing mutational analysis in 1196 melanomas
Juan A Santamaria-Barria1, Chikako Matsuba2, Adam Khader3
1Division of Surgical Oncology, Department of Surgery, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Journal of Surgical Oncology
|March 20, 2023
Summary
Melanoma mutations show age-related differences, with increasing mutational burden in older patients. These findings highlight potential targetable mutations for personalized melanoma therapies.
Area of Science:
- Oncology
- Genetics
- Genomics
Background:
- Melanoma is characterized by a high mutational burden.
- Approximately 50% of melanoma cases harbor oncogenic BRAF mutations.
Purpose of the Study:
- To investigate age-related differences in melanoma mutational profiles.
- To identify potential targetable mutations across different age groups.
Main Methods:
- Analysis of melanoma samples from the Genomics Evidence Neoplasia Information Exchange database.
- Identification of targetable mutations using the Precision Oncology Knowledge Base (OncoKB).
Main Results:
- A cohort of 1194 patients with a common set of 30 mutated genes was analyzed.
- BRAF, TP53, and NRAS were among the top mutated genes, with varying frequencies across age groups (<40, 40-59, ≥60 years).
- Mutational burden increased significantly with age (p < 0.0001).
Conclusions:
- Melanoma exhibits distinct age-related mutational patterns.
- The study identified 10 targetable mutations, including BRAF, RET, KIT, NRAS, and TP53, offering potential for personalized melanoma treatments.
