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

by Matjaz Vogelsang

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.

Product Details

ISBN-13:	9789401784580
Publisher:	Springer Netherlands
Publication date:	06/23/2015
Edition description:	2013
Pages:	195
Product dimensions:	6.10(w) x 9.25(h) x (d)

Table of Contents

Preface. 1 Historical Development of Lynch Syndrome. 2 Molecular Mechanisms and Functions of DNA Mismatch Repair. 3 New Insights into Lynch Syndrome Diagnosis. 4 Genetic Testing, an Optimal Strategy for Lynch Syndrome Identification. 5 Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance. 6 The Role of Epimutations of the Mismatch Repair Genes in the Development of Lynch Syndrome Related Cancers. 7 Mutations in non-MMR Genes Modifying or Mimicking Lynch Syndrome Phenotype. 8 Lynch Syndrome: Genetic Counselling of at-risk Individuals and Families. Index.

Editorial 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 Publisher

Reviewer: Luis F Escobar, MD, MS (Peyton Manning Children's Hospital)
Description: This highly specialized book is an extensive, multiauthored discussion of Lynch syndrome.
Purpose: The editor notes in the preface that this detailed publication seeks to raise awareness in the medical community of the importance of the early detection, diagnosis, and clinical impact of Lynch syndrome in the general population. This is an understandable objective, as very few books deal with the specific concepts of Lynch syndrome (previously known as hereditary nonpolyposis colorectal cancer). The objective is met in this fascinating publication.
Audience: Because of the impact that colorectal cancer has on the general population, this is a book with a wide audience. 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.
Features: The book is well planned and the chapters follow a logical sequence that helps readers get comfortable with the subject. There are not many illustrations, but the detailed information the book offers compensates for this. Chapter 5 is of significant relevance as it discusses the clinical role of gene variants of uncertain significance. The final chapter dealing with counseling of at-risk individuals and families summarizes well the importance of the molecular and DNA findings in Lynch syndrome.
Assessment: 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.

Doody's Review Service