DNA Alterations in Lynch Syndrome : Advances in molecular diagnosis and genetic counselling / edited by Matjaž Vogelsang.

Format:

Book

Contributor:

Vogelsang, Matjaž, editor.

SpringerLink (Online service)

Series:

Biomedical and Life Sciences (Springer-11642)

Language:

English

Subjects (All):

Cancer--Research.

Cancer.

Human genetics.

Molecular biology.

Gastroenterology.

Oncology.

Cancer Research.

Human Genetics.

Molecular Medicine.

Local Subjects:

Cancer Research.

Human Genetics.

Molecular Medicine.

Gastroenterology.

Oncology.

Physical Description:

1 online resource (X, 195 pages)

Edition:

First edition 2013.

Contained In:

Springer eBooks

Place of Publication:

Dordrecht : Springer Netherlands : Imprint: Springer, 2013.

System Details:

text file PDF

Summary:

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.

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.

Other Format:

Printed edition:

ISBN:

978-94-007-6597-9

9789400765979

Access Restriction:

Restricted for use by site license.