Inherited Gastrointestinal Cancers: Identification, Management and the Role of Genetic Evaluation and Testing, An Issue of Gastrointestinal Endoscopy Clinics

1st Edition, Volume 32-1 - November 22, 2021
Editor: Fay Kastrinos
Language: English
Hardback ISBN:
9 7 8 - 0 - 3 2 3 - 8 4 9 5 8 - 6
eBook ISBN:
9 7 8 - 0 - 3 2 3 - 8 4 9 5 9 - 3

This issue of Gastrointestinal Endoscopy Clinics provides a multidisciplinary approach to the evaluation and care of individuals with inherited gastrointestinal cancer conditions.… Read more

Inherited Gastrointestinal Cancers: Identification, Management and the Role of Genetic Evaluation and Testing, An Issue of Gastrointestinal Endoscopy Clinics

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This issue of Gastrointestinal Endoscopy Clinics provides a multidisciplinary approach to the evaluation and care of individuals with inherited gastrointestinal cancer conditions. With the many recent advances made in genomic medicine and the potential impact on medical management, the articles in this issue disseminate new knowledge on the identification and management of individuals and families with a genetic susceptibility to the development of gastrointestinal cancers, including the genetic basis and cancer risks associated with inherited cancer syndromes and integrated familial cancer risk assessment; genetic testing approaches; and incorporating genetic risk counseling into routine medical care. The goal is to improve detection of GI cancer syndromes, understand related cancer risks, and optimize strategies for the prevention and early detection of cancers to minimize morbidity and mortality. Integrating genetic assessment into gastrointestinal cancer care is highly relevant across the cancer care spectrum and gastroenterologists will come away with the most current evidence to enhance and improve their clinical practice.

Cover image
Title page
Table of Contents
Copyright
Contributors
Forthcoming Issues
Foreword
Preface
Familial Predisposition and Genetic Risk Factors Associated with Pancreatic Cancer
Key points
Introduction
Familial pancreatic cancer
Inherited cancer syndromes with increased risk of PDAC
Genetic conditions and related pathogenic variants associated with pancreatic cancer
Novel inherited susceptibility gene
Genetic risk assessment and testing for inherited pancreatic cancer
Genome-wide association studies and polygenic risk scores
Rationale for PDAC screening in HRIs
Future considerations
Summary
Clinics care points
Pancreatic Cancer Surveillance and Novel Strategies for Screening
Key points
Introduction
Definitions
Discussion
Summary
Clinics care points
Genetic Evaluation of Pancreatitis
Key points
Introduction
Overall epidemiology
Germline variants
Additional genes associated with pancreatitis
Pancreatic cancer
Evaluation
Management
Summary
Clinics care points
Disclosures
Identification of Lynch Syndrome
Key points
Introduction
History of Lynch syndrome
Pathogenesis
Diagnosis of Lynch syndrome
Lynch syndrome mimics
Future directions
Summary
Clinics care points
Colorectal Cancer Screening Recommendations and Outcomes in Lynch Syndrome
Key points
Introduction
Colorectal cancer screening guidelines in Lynch syndrome
Outcomes of colorectal cancer screening for Lynch syndrome
Colorectal cancer screening modalities in Lynch syndrome
Colorectal cancer screening adherence in Lynch syndrome
Unanswered questions and future directions in colorectal cancer screening for Lynch syndrome
Clinics care points
Lynch Syndrome-Associated Cancers Beyond Colorectal Cancer
Key points
Introduction
Lynch syndrome-associated gynecologic cancers
Lynch syndrome-associated gastrointestinal cancers
Lynch syndrome-associated genitourinary cancers
Other lynch syndrome-associated malignancies
Breast cancer and lynch syndrome – a controversial link
Summary
Clinics care points
Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon
Key points
Introduction
Differential diagnosis of colonic adenomatous polyposis
Referral indications for genetic evaluation and testing for adenomatous polyposis
Genetic testing considerations for adenomatous polyposis
Genetic testing outcomes in adenomatous polyposis
Management of adenomatous polyposis
Summary
Clinics care points
Endoscopic Management and Surgical Considerations for Familial Adenomatous Polyposis
Key points
Introduction
Discussion
Summary
Clinics care points
Disclosures
Chemoprevention Considerations in Patients with Hereditary Colorectal Cancer Syndromes
Key points
Introduction
Familial adenomatous polyposis
Lynch syndrome
Summary
Clinics care points
Genetic Syndromes Associated with Gastric Cancer
Key points
Introduction
Lynch syndrome
Familial adenomatous polyposis
Gastric adenocarcinoma and proximal polyposis of the stomach
Li-Fraumeni syndrome
Peutz–Jeghers syndrome
Juvenile polyposis syndrome
Emerging germline genetic associations with gastric cancer
Summary
Clinics care points
Disclosure
Surveillance and Surgical Considerations in Hereditary Diffuse Gastric Cancer
Key points
Introduction
Identification of individuals at risk for hereditary diffuse gastric cancer
Frequency of CDH1 detection and associated gastric cancer risk
Clinical management of carriers with pathogenic CDH1 gene variants
Gastric cancer surveillance
Surgical management
Summary
Clinics care points

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Inherited Gastrointestinal Cancers: Identification, Management and the Role of Genetic Evaluation and Testing, An Issue of Gastrointestinal Endoscopy Clinics

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Fay Kastrinos