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Exome sequencing reveals a potential mutational trajectory and treatments for a specific pancreatic cancer patient

Authors Cotterell J

Received 15 March 2013

Accepted for publication 4 October 2013

Published 3 May 2014 Volume 2014:7 Pages 655—662

DOI https://doi.org/10.2147/OTT.S45232

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3


James Cotterell1,2

1
Center for Genomic Regulation, Barcelona, Spain; 2Garvan Institute for Medical Research, Sydney, NSW, Australia

Abstract: Pancreatic cancer is the fourth biggest killer, and has one of the worst prognoses, of any cancer type. Approximately 95% of patients diagnosed with pancreatic cancer will not survive beyond 5 years post diagnosis, and these statistics have barely improved in over 40 years. Here, genomic changes in one particular patient with stage IV metastatic pancreatic cancer were explored to suggest a potential personalized treatment. In particular, exome sequencing of genomic DNA extracted from blood and the cancer biopsy was utilized with the aim of identifying mutational drivers of the cancer. This analysis revealed a splice site mutation in RBCK1 as the most promising driver of the cancer and a therapy based on a pan-cyclin-dependent kinase (pan-CDK) inhibitor, flavopiridol. This study suggests that drugs whose effectiveness is unclear for general populations of cancer sufferers should possibly be reconsidered for specific patients where the drug could be rationally argued to improve outcome.

Keyword: personalized medicine, driver mutation identification, next generation sequencing

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