DNA Alterations in Lynch Syndrome

Advances in molecular diagnosis and genetic counselling

  • Matjaž Vogelsang

Table of contents

  1. Front Matter
    Pages i-x
  2. Henry T. Lynch, Stephen J. Lanspa, Carrie L. Snyder, Trudy G. Shaw, Patrick M. Lynch
    Pages 1-24
  3. Emile Coetzee, Ursula Algar, Paul Goldberg
    Pages 47-62
  4. Mala Pande, Jinyun Chen, Chongjuan Wei, Yu-Jing Huang, Marsha L. Frazier
    Pages 135-169
  5. Back Matter
    Pages 191-195

About this book

Introduction

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.

Keywords

DNA mismatch repair Ethics Genetic counselling Hereditary nonpolyposis colorectal cancer Lynch Syndrome

Editors and affiliations

  • Matjaž Vogelsang
    • 1
  1. 1., Laboratory for Molecular BiologyNational Institute of ChemistryLjubljanaSlovenia

Bibliographic information

  • DOI https://doi.org/10.1007/978-94-007-6597-9
  • Copyright Information Springer Science+Business Media Dordrecht 2013
  • Publisher Name Springer, Dordrecht
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-94-007-6596-2
  • Online ISBN 978-94-007-6597-9
  • About this book