Hereditary Pancreatic and Hepatobiliary Cancers

Ashraf Haddad,Steven C Cunningham,Timothy M Pawlik,Gopal C Kowdley

doi:10.1155/2011/154673

Ashraf Haddad, Steven C Cunningham + Show 2 more

Open Access

https://doi.org/10.1155/2011/154673

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Abstract

Hereditary etiologies of pancreatic and hepatobiliary cancers are increasingly recognized. An estimated >10% of pancreatic and increasing number of hepatobiliary cancers are hereditary. The cumulative risk of hereditary pancreatic cancer ranges from measurable but negligible in cystic fibrosis to a sobering 70% in cases of hereditary pancreatitis. Candidates for pancreatic cancer surveillance are those with a risk pancreatic cancer estimated to be >10-fold that of the normal population. Screening for pancreatic cancer in high-risk individuals is typically performed by endoscopic ultrasound and should begin at least 10 years prior to the age of the youngest affected relative. Disease states known to be associated with increased risk of hepatocellular cancer include hereditary hemochromatosis, autoimmune hepatitis, porphyria, and α1-antitrypsin deficiency, with relative risks as high as 36-fold. Although much less is known about hereditary bile-duct cancers, Muir-Torre syndrome and bile salt export pump deficiency are diseases whose association with hereditary carcinogenesis is under investigation.

Highlights

Hereditary etiologies of carcinogenesis have been increasingly recognized over the past century
pancreatic cancer (PC) (HPC), the vast majority of which is pancreatic ductal adenocarcinoma (PDAC), is generally accepted to be defined as PC occurring in families with ≥2 first-degree relatives (FDRs) [6]
Known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant condition associated with mutations in DNA mismatch repair (MMR) genes including MLH1, MSH2, MSH6, PMS2, and others

Summary

Introduction

Hereditary etiologies of carcinogenesis have been increasingly recognized over the past century. In 1889, Billroth was one of the first to recognize the occurrence of multiple primary malignant neoplasms [1] and Lynch et al in 1967 one of the first to draw attention to the etiologic role of hereditary factors in their occurrence [2]. At least 78 identified genetic syndromes of hereditary cancer have been described [3] and many more syndromes undoubtedly remain to be identified. Recent molecular and genetic advancements have brought international attention to pancreatic cancer (PC), with an estimated >10% of cases being hereditary in etiology. Less common hereditary PC, hereditary hepatobiliary cancers are increasingly recognized

Pancreas Cancer

Findings

Specific Diseases with Inherited Predisposition for Pancreatic Cancer

Hepatobiliary Cancers

Summary