Limit search to available items
Book Cover

Title DNA alterations in Lynch Syndrome : advances in molecular diagnosis and genetic counselling / Matjaž Vogelsang, editor
Published Dordrecht ; New York : Springer, ©2013


Description 1 online resource
Contents Historical Development of Lynch Syndrome / Henry T. Lynch, Stephen J. Lanspa, Carrie L. Snyder -- Molecular Mechanisms and Functions of DNA Mismatch Repair / Hui Geng, Peggy Hsieh -- New Insights into Lynch Syndrome Diagnosis / Emile Coetzee, Ursula Algar, Paul Goldberg -- Genetic Testing, an Optimal Strategy for Lynch Syndrome Identification / Petra Hudler -- Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance / Minna Nyström, Minttu Kansikas -- The Role of Epimutations of the Mismatch Repair Genes in the Development of Lynch Syndrome Related Cancers / Megan P. Hitchins -- Mutations in Non-MMR Genes Modifying or Mimicking Lynch Syndrome Phenotype / Mala Pande, Jinyun Chen, Chongjuan Wei, Yu-Jing Huang -- Lynch Syndrome: Genetic Counselling of At-Risk Individuals and Families / Zandrè Bruwer, Raj Ramesar
Summary Lynch syndrome (LS) is the most common cause of inherited colorectal cancer, a disease with a high mortality rate. An estimated 37,000 of diagnosed colorectal cancer cases worldwide are attributed to Lynch syndrome each year. Intensive cancer screening, with early initiation and frequent follow-up, can reduce colorectal cancer incidence and mortality in LS patients. This book provides an up-to-date overview on the genetic and epigenetic basis of Lynch syndrome. It evaluates clinical features of the disease and critically comments on molecular tools available for identifying mutations responsible for Lynch syndrome; in addition the importance of functional assays that can help clarify the clinical nature of identified mutations is also discussed. The book also focuses on challenges in genetic counselling of at-risk individuals and discusses related ethical issues. The purpose of the book is to give a concise knowledge base for the broader scientific and medical community, including genetic counselors, in order to improve awareness on the potential impact that the diagnosis of LS has on treatment, management and surveillance of LS patients
Analysis Medicine
Human genetics
Cancer Research
Molecular Medicine
biomedische wetenschappen
digestive system
humane genetica
Medicine (General)
Geneeskunde (algemeen)
Bibliography Includes bibliographical references and index
Subject Colon (Anatomy) -- Cancer -- Genetic aspects
Colon (Anatomy) -- Cancer -- Molecular aspects
Rectum -- Cancer -- Genetic aspects
Rectum -- Cancer -- Molecular aspects
Genetic counseling.
Colorectal Neoplasms, Hereditary Nonpolyposis -- diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis -- genetics
Genetic Counseling
HEALTH & FITNESS -- Diseases -- Cancer.
MEDICAL -- Oncology.
Genetic counseling
Colon (Anatomy) -- Cancer -- Genetic aspects
Colon (Anatomy) -- Cancer -- Molecular aspects
Rectum -- Cancer -- Genetic aspects
Rectum -- Cancer -- Molecular aspects
Form Electronic book
Author Vogelsang, Matjaž
ISBN 9789400765979