Familial melanoma syndrome - phenotypic characterization and comparison with sporadic melanoma and healthy individuals – A Brazilian study

Moredo Lf,Duprat Jp,De Ávila Alr,Soares De Sá Bc,Landman G

doi:10.15761/crr.1000219

Abstract

Familial melanoma syndrome - phenotypic characterization and comparison with sporadic melanoma and healthy individuals – A Brazilian study

Highlights

The Familial Melanoma Syndrome (FMS) can be characterized by families with multiple members affected with melanoma at the same branch of the family and patients with multiple primary melanomas (2 or more) [1,2]
On FMS group most of the patients had high-density freckles (61%), phototype I or II (83%), dark eyes and dark hair (53%) and history of sunburn (66%), while 58% of the individuals had less than 50 nevi
Phenotypic characteristics related to CDKN2A mutation status on FMS group are described on Table 1

Summary

Introduction

The Familial Melanoma Syndrome (FMS) can be characterized by families with multiple members affected with melanoma at the same branch of the family and patients with multiple primary melanomas (2 or more) [1,2]. Many genes associated to familial melanoma have been described and can be tested nowadays, such as CDK4, BAP1, TERT, TERF2IP, CXC, ACD or POT1 [4] they represent less than 3% of all familial cases [4], the most studied and relevant is CDKN2A. Mutations on this gene has, so far, been found to confer a higher risk for developing melanoma and occurs in about 20 to 40% of familial melanoma cases [5,6,7]. Multiple members affected (at the same branch) and/or multiple primary melanomas (2 or more) may characterize Familial Melanoma Syndrome (FMS)

Objectives

Methods

Results

Conclusion