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nexusstc/DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling/6ecb7871f4113097860b906eea7977e2.pdf
DNA Alterations in Lynch Syndrome : Advances in Molecular Diagnosis and Genetic Counselling 🔍
Henry T. Lynch, Stephen J. Lanspa, Carrie L. Snyder (auth.), Matjaž Vogelsang (eds.) Springer Netherlands, 1, 2013
英语 [en] · PDF · 4.2MB · 2013 · 📘 非小说类图书 · 🚀/lgli/lgrs/nexusstc/scihub/zlib · Save
描述
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.
Erscheinungsdatum: 25.05.2013
备用文件名
lgli/10.1007%2F978-94-007-6597-9.pdf
备用文件名
lgrsnf/10.1007%2F978-94-007-6597-9.pdf
备用文件名
scihub/10.1007/978-94-007-6597-9.pdf
备用文件名
zlib/Medicine/Henry T. Lynch, Stephen J. Lanspa, Carrie L. Snyder (auth.), Matjaž Vogelsang (eds.)/DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling_2089400.pdf
备选作者
Vogelsang, Matjaž
备选作者
Matjaz Vogelsang
备用出版商
Springer Science + Business Media BV
备用出版商
Springer London, Limited
备用版本
Springer Nature, Dordrecht, 2013
备用版本
Dordrecht ; New York, ©2013
备用版本
Netherlands, Netherlands
备用版本
Dordrecht, cop. 2013
元数据中的注释
sm22963184
元数据中的注释
{"edition":"1","isbns":["9400765967","9400765975","9789400765962","9789400765979"],"last_page":195,"publisher":"Springer Netherlands"}
备用描述
Front Matter....Pages i-x
Historical Development of Lynch Syndrome....Pages 1-24
Molecular Mechanisms and Functions of DNA Mismatch Repair....Pages 25-45
New Insights into Lynch Syndrome Diagnosis....Pages 47-62
Genetic Testing, an Optimal Strategy for Lynch Syndrome Identification....Pages 63-83
Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance....Pages 85-100
The Role of Epimutations of the Mismatch Repair Genes in the Development of Lynch Syndrome Related Cancers....Pages 101-133
Mutations in Non-MMR Genes Modifying or Mimicking Lynch Syndrome Phenotype....Pages 135-169
Lynch Syndrome: Genetic Counselling of At-Risk Individuals and Families....Pages 171-190
Back Matter....Pages 191-195
开源日期
2013-07-21
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