Arch Iran Med. 2018;21(6):228-233.
PMID: 29940740
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Original Article

Mutations in Known and Novel cancer Susceptibility Genes in Young Patients with Pancreatic Cancer

Sahar Alimirzaie 1, Ashraf Mohamadkhani 2, Sahar Masoudi 3, Erin Sellars 4, Paolo Boffetta 5, Reza Malekzadeh 2,3, Mohammad R. Akbari 6, Akram Pourshams 2,3 *

1 Faculty of Arts & Science, University of Toronto, Toronto, Canada
2 Liver and Pancreatobiliary Diseases Research Center, Digestive Disease Research Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran,
3 Digestive Oncology Research Center, Digestive Disease Research Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
4 Women’s College Research Institute, University of Toronto, Toronto, Canada
5 Tisch Cancer Institute, Mount Sinai School of Medicine, New York, USA
6 Dalla Lana School of Public Health, University of Toronto, Toronto, Canada
*Corresponding Author: Akram Pourshams, MD, MPH; Digestive Oncology Research Center, Digestive Disease Research Institute, Tehran University of Medical Sciences, Shariati Hospital, North Kargar Ave, P. O. Box: 1411713135, Tehran, Iran. Tel: +98-21-82415140, Fax: +98-21-82415400, Email: Email: akrampourshams@ gmail.com

Article

Background: Pancreatic cancer is the fourth most common cause of mortality due to cancer, globally. It has a poor prognosis and is usually diagnosed at later stages when tumor resection is not possible. Heritability for pancreatic cancer is relatively high and clinically significant.

Methods: A group of 24 pancreatic cancer patients with young age at onset, from a referral hospital in Tehran University of Medical Sciences were screened for mutations in 710 cancer relevant genes using next generation sequencing technology.

Results: Two patients had pathogenic mutations in known pancreatic cancer susceptibility genes, BRCA1/2. Two other patients also had potentially pathogenic mutations in 2 novel candidate genes including PARP4 and EXO1.

Conclusion: BRCA1/2 genes are the most commonly mutated pancreatic cancer susceptibility genes that should be considered in all pancreatic cancer cases with young age at onset or a family history of cancer. PARP4 and EXO1 also are potential candidate genes for susceptibility to pancreatic cancer. Identifying the hereditary cases of pancreatic cancer will help to offer more targeted treatments to the patients and also to prevent cancer in family members who might be a mutation carrier.

Cite this article as: Alimirzaie S, Mohamadkhani A, Masoudi S, Sellars E, Boffetta P, Malekzadeh R, et al. Mutations in known and novel cancer susceptibility genes in young patients with pancreatic cancer. Arch Iran Med. 2018;21(6):228–233.
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Submitted: 27 Jan 2018
Accepted: 25 Apr 2018
First published online: 01 Jun 2018
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