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Article

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

BMC cancer - 5 Aug 2019

Casula Milena, Paliogiannis Panagiotis, Ayala Fabrizio, De Giorgi Vincenzo, Stanganelli Ignazio, Mandalà Mario, Colombino Maria, Manca Antonella, Sini Maria Cristina, Caracò Corrado, Ascierto Paolo Antonio, Satta Rosanna Rita, Lissia Amelia, Cossu Antonio, Palmieri Giuseppe

Abstract excerpt

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...

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Source

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Identifiers

PMID: 31382929
DOI: 10.1186/s12885-019-5984-7
PMCID: PMC6683413

Genes

CDKN2A
APC
ATM
BAP1
ERBB4
JAK3
KDR
KIT
MC1R
MET
NRAS
PIK3CA
TP53

Provenance

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