Genetic Variants Linked to Multiple Non-melanoma Skin Cancers: A Study of 19 SNPs in an Italian Population - Report - MDSpire

Genetic Variants Linked to Multiple Non-melanoma Skin Cancers: A Study of 19 SNPs in an Italian Population

  • By

  • Irene Campana

  • Ylenia Aura Minafò

  • Giovanni Luca Scaglione

  • Giulia Giovanardi

  • Terenzio Cosio

  • Caterina Lanna

  • Fabio Artosi

  • Sara Lambiase

  • Carola Valente

  • Valeria Bartolocci

  • Martina Morelli

  • Cristina Albanesi

  • Enzo Palese

  • Marilena Minieri

  • Alfredo Giovannelli

  • Daniele Avitabile

  • Nidia Margot Salcedo

  • Simona Mastroeni

  • Cinzia Mazzanti

  • Damiano Abeni

  • Elena Campione

  • Luca Fania

  • Elena Dellambra

  • April 11, 2026

  • 0 min

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Clinical Report: Genetic Variants Linked to Multiple Non-melanoma Skin Cancers

Overview

This study identifies 19 genetic variants associated with the risk of developing multiple non-melanoma skin cancers (NMSCs) in an Italian population. The findings suggest that these variants, particularly in the NFKBIA and ERCC6 genes, may influence tumor susceptibility through mechanisms related to inflammation and DNA repair.

Background

Non-melanoma skin cancers (NMSCs) are the most prevalent malignancies in fair-skinned populations, with significant implications for public health. Understanding the genetic factors that contribute to NMSC susceptibility can enhance risk stratification and inform prevention strategies. This study aims to elucidate the role of specific genetic variants in the development of multiple NMSCs.

Data Highlights

The study analyzed 219 patients with NMSC, identifying 19 significant genetic variants associated with tumor multiplicity.

Key Findings

  • 19 genetic variants were significantly associated with the multiplicity of NMSCs.
  • Most variants are located in regulatory regions affecting gene expression rather than protein structure.
  • Variants in the NFKBIA gene may increase susceptibility to tumors through inflammatory pathways.
  • ERCC6 gene variants are linked to impaired DNA repair mechanisms, contributing to cancer risk.
  • Integrating genetic and environmental factors may enhance personalized prevention strategies for high-risk individuals.

Clinical Implications

The identification of genetic variants associated with NMSC multiplicity underscores the potential for personalized risk assessment in clinical practice. Incorporating genetic testing into routine evaluations may improve prevention strategies for individuals at higher risk of developing multiple NMSCs.

Conclusion

This study highlights the importance of genetic factors in the development of multiple NMSCs, paving the way for enhanced risk stratification and targeted prevention efforts.

References

  1. Acta Neuropathologica, 2018 -- Genetic Risk Loci Linked to Diffuse Gliomas Based on 1p/19q Co-deletion, TERT Promoter, and IDH Mutation Status
  2. Blood Cancer Journal, 2025 -- Association between Cancer Predisposition Genes and the Risk of Lymphoid Malignancies
  3. The ASCO Post, 2014 -- Study Finds New Genetic Risk Markers in Pancreatic Cancer
  4. Blood Cancer Journal, 2021 -- Analysis of uncommon germline mutations in familial cases of multiple myeloma
  5. NCCN -- National Comprehensive Cancer Network®NCCN Cl
  6. Adjuvant Cemiplimab or Placebo in High-Risk Cutaneous Squamous-Cell Carcinoma - PubMed
  7. Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma - PMC
  8. NCCN National Comprehensive Cancer Network®NCCN Cl
  9. Adjuvant Cemiplimab or Placebo in High-Risk Cutaneous Squamous-Cell Carcinoma - PubMed
  10. Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma - PMC

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