Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers


  • Martinez Emmanuelle
  • Silvy Françoise
  • Fina Fréderic
  • Bartoli Marc
  • Krahn Martin
  • Barlesi Fabrice
  • Figarella-Branger Dominique
  • Iovanna Juan
  • Laugier René
  • Ouaissi Mehdi
  • Lombardo Dominique
  • Mas Eric


  • SNP
  • Rs488087
  • Pancreatic cancer

document type



Pancreatic cancer (PC) is a devastating disease progressing asymptomatically until death within months after diagnosis. Defining at-risk populations should promote its earlier diagnosis and hence also avoid its development. Considering the known involvement in pancreatic disease of exon 11 of the bile salt-dependent lipase (BSDL) gene that encodes variable number of tandem repeat (VNTR) sequences, we hypothesized upon the existence of a genetic link between predisposition to PC and mutations in VNTR loci.To test this, BSDL VNTR were amplified by touchdown-PCR performed on genomic DNA extracted from cancer tissue or blood samples from a French patient cohort and amplicons were Sanger sequenced. A robust method using probes for droplet digital (dd)-PCR was designed to discriminate the C/C major from C/T or T/T minor genotypes.We report that the c.1719C > T transition (SNP rs488087) present in BSDL VNTR may be a useful marker for defining a population at risk of developing PC (occurrence: 63.90% in the PC versus 27.30% in the control group). The odds ratio of 4.7 for the T allele was larger than those already determined for other SNPs suspected to be predictive of PC. Further studies on tumor pancreatic tissue suggested that a germline T allele may favor Kras G12R/G12D somatic mutations

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