ArticleHPB : the official journal of the International Hepato Pancreato Biliary Association2009
Single nucleotide polymorphism in RECQL and survival in resectable pancreatic adenocarcinoma.
Article in HPB : the official journal of the International Hepato Pancreato Biliary Association, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- RECQ1 A159C Polymorphism Is Associated With Overall Survival of Patients With Resected Pancreatic Cancer: A Replication Study in NRG Oncology Radiation Therapy Oncology Group 9704.International journal of radiation oncology, biology, physics · 2016Trial
- Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.Hereditary cancer in clinical practice · 2020Article
- Genomic profiling guides the choice of molecular targeted therapy of pancreatic cancer.Cancer letters · 2015Review
- Haplotype analysis of RECQL5 gene and laryngeal cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- RECQL1 and WRN DNA repair helicases: potential therapeutic targets and proliferative markers against cancers.Frontiers in genetics · 2014Review
- Identification of RECQ1-regulated transcriptome uncovers a role of RECQ1 in regulation of cancer cell migration and invasion.Cell cycle (Georgetown, Tex.) · 2014Article
- An appraisal of RECQ1 expression in cancer progression.Frontiers in genetics · 2014Article
- A replication study and genome-wide scan of single-nucleotide polymorphisms associated with pancreatic cancer risk and overall survival.Clinical cancer research : an official journal of the American Association for Cancer Research · 2012Article
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRECQL is a DNA helicase involved in DNA mismatch repair. The RECQL polymorphism, 3' untranslated region (UTR) A159C, was previously associated with overall survival of patients with resectable pancreatic adenocarcinoma treated with neoadjuvant chemoradiation. In the present study, we examined RECQL for somatic mutations and other polymorphisms and compared these findings with the outcome in patients who received adjuvant or neoadjuvant chemoradiation. We hypothesized that RECQL (i) would be mutated in cancer, (ii) would have polymorphisms linked to the 3'UTR A159C and that either or both events would affect function. We also hypothesized that (iii) these changes would be associated with survival in both cohorts of patients. MATERIAL AND
methodsWe sequenced RECQL's 15 exons and surrounding sequences in paired blood and tumour DNA of 39 patients. The 3'UTR A159C genotype was determined in blood DNA samples from 176 patients with resectable pancreatic adenocarcinoma treated with adjuvant (53) or neoadjuvant (123) chemoradiation. Survival was calculated using the Kaplan-Meier method, with log rank comparisons between groups. The relative impact of genotype on time to overall survival was performed using the Cox proportional hazards model.
resultsSomatic mutations were found in UTRs and intronic regions but not in exonic coding regions of the RECQL gene. Two single nucleotide polymorphisms (SNPs), located in introns 2 and 11, were found to be part of the same haplotype block as the RECQL A159C SNP and showed a similar association with overall survival. No short-term difference in survival between treatment strategies was found. We identified a subgroup of patients responsive to neoadjuvant therapy in which the 159 A allele conferred strikingly improved long-term survival. DISCUSSION: The RECQL 3'UTR A159C SNP is not linked with other functional SNPs within RECQL but may function as a site for regulatory molecules. The mechanism of action needs to be clarified further.
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