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Familial pancreatic cancer and hereditary syndromes: screening strategy for high-risk individuals

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Abstract

Globally, and almost evenly across nations, a familial disposition can be found in 4–10% of patients with pancreatic cancer (PC). A family history of PC is a risk for this disease and the risk level changes in correlation with the number of affected relatives. Several hereditary syndromes with potential germline mutation also have a high risk for PC; however, little is yet known regarding the genes responsible for familial pancreatic cancer (FPC). Characteristics of FPC cases are similar to those of other familial tumors, including younger onset than in sporadic cases and an ethnic difference (Ashkenazi Jewish > other Caucasian). Other risks resemble those of sporadic cases and include smoking and diabetes mellitus. People with several genetic syndromes, including Peutz–Jeghers syndrome, hereditary pancreatitis, breast-ovarian cancer syndrome, hereditary nonpolyposis colorectal cancer, and familial adenomatous polyposis also have an increased risk of PC. In many countries, but not yet in Japan, screening of these high-risk individuals is now ongoing for the detection of early PC under established familial pancreatic cancer registries. In addition to the ordinary risk factors, such as smoking, diabetes, pancreatitis, cysts, duct ectasia, and intraductal papillary mucinous neoplasm (IPMN), individuals with a family history of PC and hereditary syndromes are expected to be entered into the screening protocol.

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Abbreviations

PC:

Pancreatic cancer

SIR:

Standardized incidence rate

OR:

Odds ratio

IPMN:

Intraductal papillary mucinous neoplasm

FPC:

Familial pancreatic cancer

FDR:

First-degree relative

PJS:

Peutz–Jeghers syndrome

FAMMM:

Familial atypical multiple mole melanoma

HBOC:

Hereditary breast-ovarian cancer

RR:

Relative risk

PACGENE:

Pancreatic Cancer Genetic Epidemiology Consortium

NFPTR:

National Familial Pancreas Tumor Registry

SPC:

Sporadic pancreatic cancer

EUROPAC:

European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer

FaPaCa:

German National Case Collection for Familial Pancreatic Carcinoma

HNPCC:

Hereditary nonpolyposis colorectal cancer

FAP:

Familial adenomatous polyposis

MSI:

Microsatellite instability

PanIN:

Pancreatic intraepithelial neoplasia

PanScan:

Pancreatic Cancer Cohort Consortium

EUS:

Endoscopic ultrasonography

CT:

Computed tomography

MRI:

Magnetic resonance imaging

MRCP:

Magnetic resonance cholangiopancreatography

ERCP:

Endoscopic retrograde cholangiopancreatography

MCN:

Mucinous cystic neoplasm

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  1. Division of Endoscopy, Shizuoka Cancer Center, 1007 Shimonagakubo, Nagaizumi, Suntogun, Shizuoka, 411-8777, Japan

    Hiroyuki Matsubayashi

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Matsubayashi, H. Familial pancreatic cancer and hereditary syndromes: screening strategy for high-risk individuals. J Gastroenterol 46, 1249–1259 (2011). https://doi.org/10.1007/s00535-011-0457-z

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