Exploring the Common Mutational Landscape in Cutaneous Melanoma and Pancreatic Cancer

Area of Science:

• Oncology
• Genetics
• Cancer Research

Background:

• Cutaneous melanoma (CM) and pancreatic cancer are aggressive malignancies with increasing incidence.
• Familial forms of both cancers often share the mutated CDKN2A gene, linked to familial atypical multiple mole and melanoma syndrome (FAMMM).
• Sporadic forms of these cancers exhibit distinct key-driven genes.

Purpose of the Study:

• To provide a comprehensive description of the mutational landscape in CM and pancreatic cancer.
• To identify similarities in the genetic underpinnings of these two distinct cancers.
• To explore common mutated genes and copy number alterations using cBioPortal.

Main Methods:

• Literature review focusing on mutational landscape similarities between CM and pancreatic cancer.
• Utilized the cBioPortal database to analyze common mutations and copy number alterations.
• Investigated genes mutated in at least 5% of patients and copy number alterations in at least 3%.

Main Results:

• Identified 18 commonly mutated genes and 3 copy number alterations in both CM and pancreatic cancer.
• Found a pathogenic variant in the BRCA2 gene in two patients who developed both cancers.
• Highlighted CDKN2A as a common mutated gene in familial forms of both diseases.

Conclusions:

• Shared genetic factors contribute to the development of CM and pancreatic cancer.
• BRCA2 mutations may indicate a predisposition to developing both malignancies.
• Further research into genetic biomarkers is crucial for risk identification, screening, and clinical management.