DNA Alterations in Lynch Syndrome
Advances in molecular diagnosis and genetic counselling
Editors: Vogelsang, Matjaž (Ed.)
Free Preview- Historical development of Lynch syndrome
- Comprehensive review on DNA mismatch repair pathway
- New insights into Lynch syndrome manifestation
- Genetic counselling of Lynch syndrome patients and related ethical issues
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- About this book
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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.
- Reviews
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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)
- Table of contents (8 chapters)
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Historical Development of Lynch Syndrome
Pages 1-24
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Molecular Mechanisms and Functions of DNA Mismatch Repair
Pages 25-45
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New Insights into Lynch Syndrome Diagnosis
Pages 47-62
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Genetic Testing, an Optimal Strategy for Lynch Syndrome Identification
Pages 63-83
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Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance
Pages 85-100
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Table of contents (8 chapters)
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Bibliographic Information
- Bibliographic Information
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- Book Title
- DNA Alterations in Lynch Syndrome
- Book Subtitle
- Advances in molecular diagnosis and genetic counselling
- Editors
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- Matjaž Vogelsang
- Copyright
- 2013
- Publisher
- Springer Netherlands
- Copyright Holder
- Springer Science+Business Media Dordrecht
- eBook ISBN
- 978-94-007-6597-9
- DOI
- 10.1007/978-94-007-6597-9
- Hardcover ISBN
- 978-94-007-6596-2
- Softcover ISBN
- 978-94-017-8458-0
- Edition Number
- 1
- Number of Pages
- X, 195
- Topics
