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Melanoma: a genetics guide for surgeons.

Ferdia J Browne1, Stephanie M Bollard2, Patrick Ormond3

  • 1Department of Plastic and Reconstructive Surgery, Mater Misericordiae University Hospital.

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|February 15, 2026
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Summary
This summary is machine-generated.

Genetic predisposition significantly impacts melanoma risk, influencing diagnosis and treatment. Understanding genetic variants and cancer syndromes aids surgeons in early detection and personalized patient care.

Keywords:
cancer surveillancecancer syndromesgenetic predispositiongenetic testinginherited cancer riskmelanoma

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Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • Melanoma is a lethal skin cancer, often linked to UV radiation, but genetic factors are crucial.
  • Genetic predisposition plays a key role in melanoma development and can be associated with other cancers, forming cancer syndromes.
  • Surgeons must understand genetic predisposition for effective melanoma diagnosis and management.

Purpose of the Study:

  • To outline the contribution of pathogenic variants to melanoma and other cancers.
  • To describe the management of individuals carrying these high-risk variants.
  • To highlight indications for genetic screening in melanoma patients.

Main Methods:

  • Review of genetic variants associated with melanoma and other cancers.
  • Description of melanoma-dominant (e.g., CDKN2A, CDK4, POT1) and melanoma-subordinate syndromes.
  • Discussion of clinical management and genetic screening guidelines.

Main Results:

  • Identified numerous pathogenic variants increasing melanoma risk.
  • Highlighted that these variants are often linked to multiple cancer types, forming syndromes.
  • Emphasized the need for surgeons to consider non-melanoma cancers in genetically predisposed patients.

Conclusions:

  • Genetic insights are vital for personalized melanoma care.
  • Surgeons should integrate knowledge of genetic predisposition and cancer syndromes into clinical practice.
  • Targeted surveillance and timely intervention for high-risk individuals can reduce melanoma morbidity and mortality.