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DNA alterations in Lynch Syndrome : advances in molecular diagnosis and genetic counselling

Autor: Matjaž Vogelsang
Editora: Dordrecht ; New York : Springer, ©2013.
Edição/Formato   e-book : Documento : InglêsVer todas as edições e formatos
Base de Dados:WorldCat
Resumo:
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  Ler mais...
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Detalhes

Gênero/Forma: Electronic books
Tipo de Material: Documento, Recurso Internet
Tipo de Documento: Recurso Internet, Arquivo de Computador
Todos os Autores / Contribuintes: Matjaž Vogelsang
ISBN: 9789400765979 9400765975
Número OCLC: 843753219
Descrição: 1 online resource.
Conteúdos: Historical Development of Lynch Syndrome / Henry T. Lynch, Stephen J. Lanspa, Carrie L. Snyder --
Molecular Mechanisms and Functions of DNA Mismatch Repair / Hui Geng, Peggy Hsieh --
New Insights into Lynch Syndrome Diagnosis / Emile Coetzee, Ursula Algar, Paul Goldberg --
Genetic Testing, an Optimal Strategy for Lynch Syndrome Identification / Petra Hudler --
Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance / Minna Nyström, Minttu Kansikas --
The Role of Epimutations of the Mismatch Repair Genes in the Development of Lynch Syndrome Related Cancers / Megan P. Hitchins --
Mutations in Non-MMR Genes Modifying or Mimicking Lynch Syndrome Phenotype / Mala Pande, Jinyun Chen, Chongjuan Wei, Yu-Jing Huang --
Lynch Syndrome: Genetic Counselling of At-Risk Individuals and Families / Zandrè Bruwer, Raj Ramesar.
Responsabilidade: Matjaž Vogelsang, editor.
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Resumo:

This book surveys the genetic and epigenetic basis of Lynch syndrome, evaluating its clinical features and analyzing molecular tools for identifying mutations responsible for the syndrome; includes  Ler mais...

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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 Ler mais...

 
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schema:description"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."
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