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

Auteur: Matjaž Vogelsang
Uitgever: Dordrecht ; New York : Springer, ©2013.
Editie/Formaat:   eBoek : Document : EngelsAlle edities en materiaalsoorten bekijken.
Database:WorldCat
Samenvatting:
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  Meer lezen...
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Genre/Vorm: Electronic books
Genre: Document, Internetbron
Soort document: Internetbron, Computerbestand
Alle auteurs / medewerkers: Matjaž Vogelsang
ISBN: 9789400765979 9400765975
OCLC-nummer: 843753219
Beschrijving: 1 online resource.
Inhoud: 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.
Verantwoordelijkheid: Matjaž Vogelsang, editor.

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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  Meer lezen...

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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 Meer lezen...

 
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