Familial Pancreatic Cancer

Introduction

Pancreatic cancer (PC) is the fourth common cause of cancer death in the United States with an overall 5-year survival of less than 5%. In the few patients who had a “curative” resection, the best 5-year survival is around 20% with chemotherapy.

Abstract

Pancreatic cancer is an extraordinarily deadly disease with a median survival of a few months after diagnosis. Studies over the past three decades have shown that 10% of patients with pancreatic ductal adenocarcinoma have a family history of the disease. A number of distinct genetic syndromes are associated with a greater risk of pancreatic cancer. These include familial atypical multiple mole melanoma, Peutz–Jeghers syndrome, hereditary nonpolyposis colorectal cancer, familial adenomatous polyposis, hereditary breast ovarian cancer, and hereditary pancreatitis. These syndromes arise as a result of germline mutations in a cancer-causing gene. Different national registries were created in order to identify and develop new approaches in screening high-risk individuals for precancerous pancreatic lesions. The study of these individuals has increased our understanding of the pathogenesis of this lethal disease and can be used to improve the diagnosis of more common “sporadic” forms of pancreatic cancer.

Keywords

familial pancreatic cancer, pancreatic cancer, cancer predisposition syndromes, germline mutations, risk factors, screening