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?

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

Risultato della ricerca: Article

7 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

Fingerprint

Adenocarcinoma
Genes
DNA
Pancreatic Neoplasms
Amplification
Alleles
RNA Helicases
DNA Helicases
Gene encoding
Gene Dosage
Assays
Gene Expression
Neoplasms
Therapeutics

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Pharmacology
  • Drug Discovery
  • Clinical Biochemistry

Cita questo

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

In: Expert Opinion on Therapeutic Targets, Vol. 18, 2014, pag. 841-850.

Risultato della ricerca: Article

@article{8a06786e371145c8b2bf61887cf9379b,
title = "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?",
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.",
author = "Antonio Russo and Viviana Bazan and Giuseppe Bronte and Giuseppe Cicero and Daniele Fanale and Christian Rolfo and Pascal Belleau and Patrice Berthezene and Dagorn, {Jean Charles} and Iovanna, {Juan Lucio} and Calvo, {Ezequiel Luis} and Daniele Santini",
year = "2014",
language = "English",
volume = "18",
pages = "841--850",
journal = "Expert Opinion on Therapeutic Targets",
issn = "1472-8222",
publisher = "Informa Healthcare",

}

TY - JOUR

T1 - 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?

AU - Russo, Antonio

AU - Bazan, Viviana

AU - Bronte, Giuseppe

AU - Cicero, Giuseppe

AU - Fanale, Daniele

AU - Rolfo, Christian

AU - Belleau, Pascal

AU - Berthezene, Patrice

AU - Dagorn, Jean Charles

AU - Iovanna, Juan Lucio

AU - Calvo, Ezequiel Luis

AU - Santini, Daniele

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

UR - http://hdl.handle.net/10447/99243

M3 - Article

VL - 18

SP - 841

EP - 850

JO - Expert Opinion on Therapeutic Targets

JF - Expert Opinion on Therapeutic Targets

SN - 1472-8222

ER -