Familial melanoma and multiple primary melanoma

Research output: Contribution to journalReview articlepeer-review

Abstract

Cutaneous melanoma (CM) has the highest mortality rates among the most common skin cancers, and its incidence is rising worldwide, thus representing a significant health care burden. CM is considered the most lethal skin cancer if not detected and treated during its early stages. Susceptibility to CM is also associated with an increased presence of atypical nevi and the occurrence of multiple primary melanoma. Personal history of CM increases the risk of developing a second melanoma by 5-8%. A family history of melanoma has also been strongly associated with an increased risk of melanoma. Approximately 5-10% of melanoma cases occur in a familial context. The main genes involved are CDKN2A, CDK4 and MC1R. The recent technological advances have allowed the identification of new genes involved in melanoma susceptibility: breast cancer 1(BRCA1), BRCA1-associated protein 1(BAP1), and telomerase reverse transcriptase (TERT).Tests on these genes allow to identify a larger number of high-risk individuals with a potential of developing familial melanoma and primary multiple melanomas. These patients also have a high risk of developing internal organ malignancies, especially pancreatic cancer. It is essential that these individuals receive adequate management along with frequent dermatological examinations, dermoscopic evaluation, genetic counselling and instrumental examinations aimed at the early identification of other tumors associated with CM.

Original languageEnglish
Pages (from-to)262-265
Number of pages4
JournalGiornale Italiano di Dermatologia e Venereologia
Volume152
Issue number3
DOIs
Publication statusPublished - Jun 2017

Keywords

  • BRCA1 genes
  • Cutaneous malignant melanoma
  • Cyclin-dependent kinase 4
  • Human tert protein
  • P16 genes

ASJC Scopus subject areas

  • Dermatology

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