Hereditary Gastric and Breast Cancer Syndrome: CDH1: One Genotype with Multiple Phenotypes

ISBN-13: 9783031213168 / Angielski / Twarda / 2023 / 453 str.

Giovanni Corso; Paolo Veronesi; Franco Roviello

Opis

In this book the editors and authors provide a comprehensive overview on basic research and clinical aspects of hereditary breast and gastric tumors. In particular, this updated editorial work aims to suggest guidelines for the clinical management of patients with hereditary diffuse gastric and lobular breast cancer. Special attention is given to E-cadherin (CDH1 gene) germline mutations, genetic screening approaches, the underlying molecular mechanisms and pathological and microscopic features. In addition, the book aims to define clinical criteria for genetic screening, and highlights current surgical treatment and clinical approaches for asymptomatic mutation carriers. Other inherited predispositions involving gastric and breast carcinoma are discussed as well. Divided into eight sections, the book starts by providing an epidemiological overview of gastric and breast cancers, followed by a section dealing with new descriptions of genetic pathways in hereditary cancer predispositions. The third section focuses on pathological features of the diseases, in an effort to bridge the gap between discovery and cancer therapy development. Subsequent sections of the book are dedicated to endoscopy and breast imaging, as well as risk-reducing surgeries to curb the risk of developing cancer. The sixth section focuses on the generation of ideas for the identification of targets and novel treatment strategies. Finally, in the seventh section the authors share the story of two patients and their experiences with the diagnosis and treatment of hereditary cancer.This multidisciplinary book brings together multiple disciplines in science and technology; specifically, medicine, surgery and biology. The majority of authors are members of the International Gastric Cancer Linkage Consortium (IGCLC) and of the European Cancer Prevention Organization (EJCPO), with relevant experience in this context. Offering in-depth insights into hereditary cancers, this book represents essential reading for students, researchers, and specialists who want to extend their knowledge on hereditary gastric and breast cancers.   

Spis treści

Part I. Epidemiology.- Family History and the Risk of Breast and Gastric Cancer.- Worldwide CDH1 Germline Mutation Frequency and the Transhormesis Hypothesis.- Hereditary Lobular Breast Cancer: A Newly Defined Syndrome.- Part II. Genetics.- Genetic Counseling and Prevention in Families at High Risk for HDGC and Other Hereditary Syndromes.- CTNNA1, a New HDGC Gene: Inactivating Mechanisms and Driven Phenotypes.- Revisiting the Biological and Clinical Impact of CDH1 Missense Variants.- Other Syndromes and Genes Associated with Gastric Cancer Predisposition.- Computer-Assisted Interpretation of Cancer-Predisposing Variants.- Part III. Pathology.- Histopathology of Hereditary Diffuse Gastric Cancer: From Grossing and 3D Microscopy to Immunophenotypic and Molecular Profiling.- HER2 Testing in Breast and Gastric Cancer with CDH1 Germline Mutations.- Pathology and Somatic Alterations in Hereditary Lobular Breast Cancers.- Part IV. Endoscopy and Imaging.- Endoscopy: Is there Anything New?.- Endoscopic Surveillance and Pathology of Biopsies in CDH1, CTNNA1 and HDGC-Like Families.- Lobular Carcinoma of the Breast: Spectrum of Imaging Findings and New Emerging Technologies on the Horizon.- Part V. Surgery.- Prophylactic Total Gastrectomy: Techniques.- Prophylactic Total Gastrectomy: How Many?.- Hereditary Lobular Breast Cancer Syndrome: Role of Surgery.- Breast Reconstruction.- Part VI. New Issues.- Psychological Burden and Preferences in CDH1 Mutation Carriers: Beyond the Cancer Diagnosis.- Drug Repurposing in Gastric Cancer: Current Status and Future Perspectives.- The Chemoprevention of Hereditary Diffuse Gastric Cancer.- Malformations and Malformative Syndromes Associated with CDH1.- Hereditary Breast Cancer Non-CDH1 Associated.- Part VII. Patient Advocacy.- My Hereditary Gastric Cancer.- Hereditary Breast Cancer Syndrome, My Experience.- Part VIII. Miscellaneous.- β-Hemoglobinopathies and Early Onset of Cancers in Adulthood. Epidemiology in Southeastern Asia & Brunei with Emphasis for Prevention and Treatment.

O autorze

Giovanni Corso MD, PhD

Breast surgeon at the European Institute of Oncology in Milan, Italy, and senior researcher at the University of Milan, Italy. Elected president of the European Cancer Prevention Organization (ECPO), and next editor-in-chief of the European Journal of Cancer Prevention.

Paolo Veronesi, MD

Director of the Breast Surgery Division at the European Institute of Oncology in Milan, Italy, and full professor in surgery at the University of Milan, Italy. President of the Umberto Veronesi Foundation (FUV).

Franco Roviello, MD

Director of the Surgical Oncology Unit at the Hospital “Le Scotte” in Siena, Italy, and full professor in surgery at the University of Siena, Italy. President of the Italian Society of Surgical Oncology (SICO).