Germline copy number variation in the YTHDC2 gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcinoma susceptibility?

Daniele Fanale, Antonio Russo, Giuseppe Cicero, Giuseppe Bronte, Viviana Bazan, Christian Rolfo, Pascal Belleau, Patrice Berthezene, Jean Charles Dagorn, Juan Lucio Iovanna, Ezequiel Luis Calvo, Daniele Santini

Risultato della ricerca: Articlepeer review

12 Citazioni (Scopus)

Abstract

Objective: The vast majority of pancreatic cancers occurs sporadically. Thediscovery of frequent variations in germline gene copy number can significantlyinfluence the expression levels of genes that predispose to pancreaticadenocarcinoma. We prospectively investigated whether patients withsporadic pancreatic adenocarcinoma share specific gene copy numbervariations (CNVs) in their germline DNA.Patients and methods: DNA samples were analyzed from peripheralleukocytes from 72 patients with a diagnosis of sporadic pancreatic adenocarcinomaand from 60 controls using Affymetrix 500K array set. Multiplexligation-dependent probe amplification (MLPA) assay was performed usinga set of self-designed MLPA probes specific for seven target sequences.Results: We identified a CNV-containing DNA region associated with pancreaticcancer risk. This region shows a deletion of 1 allele in 36 of the 72 analyzedpatients but in none of the controls. This region is of particular interest since itcontains the YTHDC2 gene encoding for a putative DNA/RNA helicase, suchprotein being frequently involved in cancer susceptibility. Interestingly,82.6% of Sicilian patients showed germline loss of one allele.Conclusions: Our results suggest that the YTHDC2 gene could be a potentialcandidate for pancreatic cancer susceptibility and a useful marker for earlydetection as well as for the development of possible new therapeutic strategies.
Lingua originaleEnglish
pagine (da-a)841-850
Numero di pagine10
RivistaExpert Opinion on Therapeutic Targets
Volume18
Stato di pubblicazionePublished - 2014

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Pharmacology
  • Drug Discovery
  • Clinical Biochemistry

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