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Genetic Evaluation of Pancreatitis
Hereditary pancreatitis (HP) is a rare inherited chronic pancreatitis (CP) with strong genetic associations, with estimated prevalence ranging from 0.3 to 0.57 per 100,000 across Europe, North America, and East Asia. Apart from the most well-described genetic variants are PRSS1, SPINK1, and CFTR, many other genes, such as CTRC, CPA1, and CLDN2 and CEL have been found to associate with HP, typically in one of the 3 main mechanisms such as altered trypsin activity, pancreatic ductal cell secretion, and calcium channel regulation. The current mainstay of management for patients with HP comprises genetic testing for eligible i...
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: Yichun Fu, Aimee L. Lucas Source Type: research

Endoscopic Management and Surgical Considerations for Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP) is the development of many adenomatous colorectal polyps. Colonoscopy is recommended to start at age 10 to 12  years at intervals of 1 to 2 years. Colectomy is clearly indicated for malignancy or significant colorectal symptoms. After colectomy, endoscopic surveillance is still critical. Duodenal and gastric polyposis is also found in almost all patients with FAP. Screening with upper endoscopy and ampull ary visualization is recommended, generally determined by age and staging of duodenal polyposis, but guidelines are increasingly factoring in ampullary and gastric manifestations. Su...
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: Peter P. Stanich, Brian Sullivan, Alex C. Kim, Matthew F. Kalady Source Type: research

Pancreatic Cancer Surveillance and Novel Strategies for Screening
Individuals with a genetic susceptibility to pancreatic ductal adenocarcinoma (PDAC) may benefit from surveillance to increase the likelihood of early detection. Currently, candidates for surveillance are identified based on genetic test results and family history of PDAC, and surveillance is accomplished through imaging of the pancreas (endoscopic ultrasound or MRI). Novel methods that incorporate personalized risk, biomarkers, and radiomics are being investigated in an attempt to improve identification of at-risk individuals and to increase detection of precursor and early-stage lesions. (Source: Gastrointestinal Endosco...
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: Beth Dudley, Randall E. Brand Source Type: research

Surveillance and Surgical Considerations in Hereditary Diffuse Gastric Cancer
Inactivating germline variants in the CDH1 tumor suppressor gene cause the hereditary diffuse gastric cancer syndrome. Total gastrectomy is recommended for prevention, although it is associated with adverse outcomes and chronic health risks. Gastric cancer surveillance is an alternative to surgery; however, upper gastrointestinal endoscopy is limited by poor sensitivity. Cancer surveillance requires accurate detection of early carcinoma and patient-specific disease penetrance estimates. Current clinical care should incorporate up-to-date information on variable disease penetrance, which does not seem to correlate with CDH1...
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: Lauren A. Gamble, Jeremy L. Davis Source Type: research

Familial Predisposition and Genetic Risk Factors Associated with Pancreatic Cancer
Pancreatic cancer (PC) is a highly lethal cancer and projected to be the second leading cause of cancer death by 2030. Multigene panel testing has facilitated the identification of germline variants associated with an increased risk of PC. Precision treatment has led to improved outcomes for patients with these findings. Because of these improved outcomes as well as the implications for at-risk family members who may benefit from additional cancer screening, the NCCN recommends universal genetic testing for newly diagnosed PC patients. This review describes the most common heritable conditions associated with PC and those ...
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: Sheila D. Rustgi, Kimberly J. Hilfrank, Fay Kastrinos Source Type: research

Identification of Lynch Syndrome
Lynch syndrome (LS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic germline variants (PGV) in any of the 4 DNA mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, or deletions in EPCAM. LS leads to an increased risk of intestinal and extraintestinal cancers, of which colorectal and endometrial cancers are the most common. Individuals at risk for LS can be identified by using clinical criteria, prediction models, and universal tumor testing. Understanding each of these tools, including limitations and mimics of LS, is essential to the early identification of at-risk individuals. (Source: Gastr...
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: Jennifer K. Maratt, Elena Stoffel Source Type: research

Inherited Gastrointestinal Cancers and the Role of Genetic Evaluation and Testing
Genetic evaluation and testing for familial risk of gastrointestinal cancers have rapidly evolved over recent decades. Advancements in DNA-sequencing technologies have allowed for more consistent use of tumor testing to determine therapeutic selection and germline testing to assess for the inherited risk of cancer. Traditionally, the decision to pursue germline genetic testing involved a detailed review of personal and family cancer history and the use of clinical criteria that relied heavily on cancer burden and young ages of cancer diagnoses in families. (Source: Gastrointestinal Endoscopy Clinics of North America)
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: Fay Kastrinos Tags: Preface Source Type: research

Inherited Gastrointestinal Cancer in the New Era of Genetic Testing
Gastrointestinal (GI) endoscopists are usually at the front line in the tissue diagnosis of malignancies involving the GI tract. Based on careful evaluation of family history and often early onset of these cancers, an inherited predilection may be suspected. In the modern age of personalized or precision medicine, the cancer tissue itself is often tested for somatic genetic mutations that may be a pathway for specific new oncology therapies. When inherited syndromes are a concern, with all body cells affected, germline genetic analysis can be carried out usually using blood or cheek mucosa cells to identify genetic mutatio...
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: Charles J. Lightdale Tags: Foreword Source Type: research

Inherited Gastrointestinal Cancers: Identification, Management, and the Role of Genetic Evaluation and Testing
GASTROINTESTINAL ENDOSCOPY CLINICS OF NORTH AMERICA (Source: Gastrointestinal Endoscopy Clinics of North America)
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Authors: FAY KASTRINOS Source Type: research

Copyright
ELSEVIER (Source: Gastrointestinal Endoscopy Clinics of North America)
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Source Type: research

Contributors
CHARLES J. LIGHTDALE, MD (Source: Gastrointestinal Endoscopy Clinics of North America)
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Source Type: research

Contents
Charles J. Lightdale (Source: Gastrointestinal Endoscopy Clinics of North America)
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Source Type: research

Forthcoming Issues
Colorectal Polyps (Source: Gastrointestinal Endoscopy Clinics of North America)
Source: Gastrointestinal Endoscopy Clinics of North America - November 17, 2021 Category: Gastroenterology Source Type: research

Optimizing Endoscopic Operations
GASTROINTESTINAL ENDOSCOPY CLINICS OF NORTH AMERICA (Source: Gastrointestinal Endoscopy Clinics of North America)
Source: Gastrointestinal Endoscopy Clinics of North America - September 17, 2021 Category: Gastroenterology Authors: SUNGUK N. JANG, JOHN J. VARGO Source Type: research

Copyright
ELSEVIER (Source: Gastrointestinal Endoscopy Clinics of North America)
Source: Gastrointestinal Endoscopy Clinics of North America - September 17, 2021 Category: Gastroenterology Source Type: research