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

Milena CasulaPanagiotis PaliogiannisFabrizio AyalaVincenzo De GiorgiIgnazio StanganelliMario MandalàMaria ColombinoAntonella MancaMaria Cristina SiniCorrado CaracòPaolo Antonio AsciertoRosanna Rita Sattanull nullAmelia LissiaAntonio CossuGiuseppe Palmierinull null
Published in: BMC cancer (2019)
CDNK2A mutation is the most relevant susceptibility mutation in Italian patients with MPM, especially those with a family history for CMM. The prevalence of this mutation and other sequence variants identified in this study varies among specific sub-populations. Furthermore, some heterogeneity in driver somatic mutations between sporadic MPMs has been observed, as well as in a number of associated sequence variants the clinical impact of which needs to be further elucidated.
Keyphrases
  • copy number
  • risk factors
  • dna methylation
  • circulating tumor