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

著者: Matjaž Vogelsang
出版: Dordrecht ; New York : Springer, ©2013.
エディション/フォーマット:   電子書籍 : Document : Englishすべてのエディションとフォーマットを見る
データベース:WorldCat
概要:
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  続きを読む
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ジャンル/形式: Electronic books
資料の種類: Document, インターネット資料
ドキュメントの種類: インターネットリソース, コンピューターファイル
すべての著者/寄与者: Matjaž Vogelsang
ISBN: 9789400765979 9400765975
OCLC No.: 843753219
物理形態: 1 online resource.
コンテンツ: 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.
責任者: Matjaž Vogelsang, editor.

概要:

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  続きを読む

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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 続きを読む

 
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