Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

ABSTRACT:

Introduction

Multiple primary melanomas (MPM) occur up to 8% of patients with cutaneous malignant melanoma (CMM). They are often sporadic harbouring several somatic mutations, but also familial cases harbouring a CDKN2A germline mutation have been describe in Caucasian populations. The aim of this study was to investigate the incidence, the distribution patterns and the impact of known and unknown germline and somatic mutations in patients with MPM from Italy.

Materials and methods

One-hundred and two MPM patients were enrolled for germline mutation analysis, and five patients with at least four MPMs were identified for somatic mutation analysis. The demographic, pathologic and clinical features were retrieved from medical records. Molecular analysis for both germline and so

SUBMITTER: Casula M 

PROVIDER: S-EPMC6683413 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature