DNA Alterations in Lynch Syndrome

1. Front Matter

   Pages i-x

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2. Historical Development of Lynch Syndrome

   • Henry T. Lynch, Stephen J. Lanspa, Carrie L. Snyder, Trudy G. Shaw, Patrick M. Lynch

   Pages 1-24

3. Molecular Mechanisms and Functions of DNA Mismatch Repair

   • Hui Geng, Peggy Hsieh

   Pages 25-45

4. New Insights into Lynch Syndrome Diagnosis

   • Emile Coetzee, Ursula Algar, Paul Goldberg

   Pages 47-62

5. Genetic Testing, an Optimal Strategy for Lynch Syndrome Identification

   • Petra Hudler

   Pages 63-83

6. Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance

   • Minna Nyström, Minttu Kansikas

   Pages 85-100

7. The Role of Epimutations of the Mismatch Repair Genes in the Development of Lynch Syndrome Related Cancers

   • Megan P. Hitchins

   Pages 101-133

8. Mutations in Non-MMR Genes Modifying or Mimicking Lynch Syndrome Phenotype

   • Mala Pande, Jinyun Chen, Chongjuan Wei, Yu-Jing Huang, Marsha L. Frazier

   Pages 135-169

9. Lynch Syndrome: Genetic Counselling of At-Risk Individuals and Families

   • Zandrè Bruwer, Raj Ramesar

   Pages 171-190

10. Back Matter

    Pages 191-195

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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.

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

From the reviews:

“This highly specialized book is an extensive, multiauthored discussion of Lynch syndrome. … From health professionals implementing general health surveillance to oncologists and geneticists dealing with populations at risk of Lynch syndrome, this is a must-have book. Cancer genetics clinics should count this as part of their resources to provide accurate information to their patients. … There are no comparable publications. This book is unique in its concentration on a single disorder, and it achieves its goals with outstanding writing and planning.” (Luis F. Escobar, Doody’s Book Reviews, October, 2013)

• , Laboratory for Molecular Biology, National Institute of Chemistry, Ljubljana, Slovenia

  Matjaž Vogelsang

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