Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition.

ABSTRACT:

Introduction

Approximately 20%-45% of familial melanoma (FM) cases are associated with genetic predisposition.

Objectives

This single-center retrospective study aimed to assess the frequency of pathogenic variants (PV) in the main melanoma-predisposing genes in patients with cutaneous melanoma and investigate the clinical predictors of genetic predisposition.

Methods

Patients included were those diagnosed with cutaneous melanoma at the Dermatology Unit of the University Hospital of Verona, Italy, from 2000 to 2022, presenting at least one of the followings: multiple melanomas (≥ 3); personal/family history of pancreatic cancer (PC) (up to 2^nd-degree relatives); ≥ 2 1^st-degree relatives with melanoma; ≥ 1 1^st-degree relatives with early

SUBMITTER: Ferrara G 

PROVIDER: S-EPMC11314473 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature