Title DNA alterations in Lynch Syndrome : advances in molecular diagnosis and genetic counselling / Matjaž Vogelsang, editor

Published Dordrecht ; New York : Springer, ©2013

Click on the following:
Springer eBooks
Springer Biomedical and Life Sciences eBooks

Copies

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 Oncology Human genetics Gastroenterology Biomedicine Cancer Research Molecular Medicine geneeskunde biomedische wetenschappen neoplasms spijsverteringsstelsel digestive system oncologie 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 9400765975

  Permalink