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Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer

1
Laboratory of Clinical Genomics, National Cancer Center Research Institute, Tokyo 1040045, Japan
2
Department of Cancer Genome Informatics, Graduate School of Medicine/Faculty of Medicine, Osaka University, Osaka 5650871, Japan
3
Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital, Tokyo 1040045, Japan
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(3), 561; https://doi.org/10.3390/ijms20030561
Received: 26 December 2018 / Revised: 25 January 2019 / Accepted: 28 January 2019 / Published: 29 January 2019
(This article belongs to the Special Issue Cell and Molecular Biology of Pancreatic Disorders 2019)
Pancreatic cancer (PC) is one of the most devastating malignancies; it has a 5-year survival rate of only 9%, and novel treatment strategies are urgently needed. While most PC cases occur sporadically, PC associated with hereditary syndromes or familial PC (FPC; defined as an individual having two or more first-degree relatives diagnosed with PC) accounts for about 10% of cases. Hereditary cancer syndromes associated with increased risk for PC include Peutz-Jeghers syndrome, hereditary pancreatitis, familial atypical multiple mole melanoma, familial adenomatous polyposis, Lynch syndrome and hereditary breast and ovarian cancer syndrome. Next-generation sequencing of FPC patients has uncovered new susceptibility genes such as PALB2 and ATM, which participate in homologous recombination repair, and further investigations are in progress. Previous studies have demonstrated that some sporadic cases that do not fulfil FPC criteria also harbor similar mutations, and so genomic testing based on family history might overlook some susceptibility gene carriers. There are no established screening procedures for high-risk unaffected cases, and it is not clear whether surveillance programs would have clinical benefits. In terms of treatment, poly (ADP-ribose) polymerase inhibitors for BRCA-mutated cases or immune checkpoint inhibitors for mismatch repair deficient cases are promising, and clinical trials of these agents are underway. View Full-Text
Keywords: hereditary cancer syndrome; Lynch syndrome; familial pancreatic cancer; next-generation sequencing; germline mutation; surveillance; PARP inhibitor; immune checkpoint inhibitor hereditary cancer syndrome; Lynch syndrome; familial pancreatic cancer; next-generation sequencing; germline mutation; surveillance; PARP inhibitor; immune checkpoint inhibitor
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Ohmoto, A.; Yachida, S.; Morizane, C. Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer. Int. J. Mol. Sci. 2019, 20, 561.

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