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

作者: Mohammad R. Akbari , Sahar Masoudi , Sahar Alimirzaie , Erin Sellars , Akram Pourshams

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摘要: Background: Pancreatic cancer is the fourth most common cause of mortality due to cancer, globally. It has a poor prognosis and usually diagnosed at later stages when tumor resection not possible. Heritability for pancreatic relatively high clinically significant. Methods: A group 24 patients with young age onset, from referral hospital in Tehran University Medical Sciences were screened mutations 710 relevant genes using next generation sequencing technology. Results: Two had pathogenic known susceptibility genes, BRCA1/2. other also potentially 2 novel candidate including PARP4 EXO1. Conclusion: BRCA1/2 are commonly mutated that should be considered all cases onset or family history cancer. EXO1 potential Identifying hereditary will help offer more targeted treatments prevent members who might mutation carrier.

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