DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling

Author:   Matjaž Vogelsang
Publisher:   Springer
Edition:   2013 ed.
ISBN:  

9789400765962


Pages:   195
Publication Date:   25 May 2013
Format:   Hardback
Availability:   Manufactured on demand   Availability explained
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DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling


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Overview

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.

Full Product Details

Author:   Matjaž Vogelsang
Publisher:   Springer
Imprint:   Springer
Edition:   2013 ed.
Dimensions:   Width: 15.50cm , Height: 1.80cm , Length: 23.50cm
Weight:   4.757kg
ISBN:  

9789400765962


ISBN 10:   9400765967
Pages:   195
Publication Date:   25 May 2013
Audience:   College/higher education ,  Postgraduate, Research & Scholarly
Format:   Hardback
Publisher's Status:   Active
Availability:   Manufactured on demand   Availability explained
We will order this item for you from a manufactured on demand supplier.

Table of Contents

Preface.- Historical Development of Lynch Syndrome.- Molecular Mechanisms and Functions of DNA Mismatch Repair.- New Insights into Lynch Syndrome Diagnosis.- Genetic Testing, an Optimal Strategy for Lynch Syndrome Identification.- Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance.- The Role of Epimutations of the Mismatch Repair Genes in the Development of Lynch Syndrome Related Cancers.- Mutations in non-MMR Genes Modifying or Mimicking Lynch Syndrome Phenotype.- Lynch Syndrome: Genetic Counselling of at-risk Individuals and Families.- Index.

Reviews

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)


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)


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