Journal articles
Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers
Abstract : 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
https://hal-amu.archives-ouvertes.fr/hal-01480288
Contributor : Eric Mas <>
Submitted on : Wednesday, March 1, 2017 - 11:43:51 AM
Last modification on : Wednesday, August 19, 2020 - 12:08:25 PM
Long-term archiving on: : Friday, June 2, 2017 - 12:30:48 PM
Contributor : Eric Mas <>
Submitted on : Wednesday, March 1, 2017 - 11:43:51 AM
Last modification on : Wednesday, August 19, 2020 - 12:08:25 PM
Long-term archiving on: : Friday, June 2, 2017 - 12:30:48 PM
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