The Resource DNA Alterations in Lynch Syndrome : Advances in molecular diagnosis and genetic counselling, edited by Matjaž Vogelsang, (electronic resource)

DNA Alterations in Lynch Syndrome : Advances in molecular diagnosis and genetic counselling, edited by Matjaž Vogelsang, (electronic resource)

Label
DNA Alterations in Lynch Syndrome : Advances in molecular diagnosis and genetic counselling
Title
DNA Alterations in Lynch Syndrome
Title remainder
Advances in molecular diagnosis and genetic counselling
Statement of responsibility
edited by Matjaž Vogelsang
Contributor
Editor
Editor
Subject
Language
  • eng
  • eng
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
Dewey number
614.5999
http://bibfra.me/vocab/relation/httpidlocgovvocabularyrelatorsedt
KvH0yhX_WoI
Language note
English
LC call number
RC261-271
Literary form
non fiction
Nature of contents
dictionaries
http://library.link/vocab/relatedWorkOrContributorName
Vogelsang, Matjaž.
http://library.link/vocab/subjectName
  • Oncology
  • Human genetics
  • Medicine
  • Gastroenterology
  • Oncology
  • Cancer Research
  • Human Genetics
  • Molecular Medicine
  • Gastroenterology
  • Oncology
Label
DNA Alterations in Lynch Syndrome : Advances in molecular diagnosis and genetic counselling, edited by Matjaž Vogelsang, (electronic resource)
Instantiates
Publication
Note
Description based upon print version of record
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Content category
text
Content type code
  • txt
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
Dimensions
unknown
Edition
1st ed. 2013.
Extent
1 online resource (202 p.)
Form of item
online
Isbn
9789400765979
Media category
computer
Media type code
  • c
Other control number
10.1007/978-94-007-6597-9
Specific material designation
remote
System control number
  • (CKB)2670000000372388
  • (EBL)1592018
  • (OCoLC)843753219
  • (SSID)ssj0000894327
  • (PQKBManifestationID)11468832
  • (PQKBTitleCode)TC0000894327
  • (PQKBWorkID)10840768
  • (PQKB)11494756
  • (DE-He213)978-94-007-6597-9
  • (MiAaPQ)EBC1592018
  • (EXLCZ)992670000000372388
Label
DNA Alterations in Lynch Syndrome : Advances in molecular diagnosis and genetic counselling, edited by Matjaž Vogelsang, (electronic resource)
Publication
Note
Description based upon print version of record
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Content category
text
Content type code
  • txt
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
Dimensions
unknown
Edition
1st ed. 2013.
Extent
1 online resource (202 p.)
Form of item
online
Isbn
9789400765979
Media category
computer
Media type code
  • c
Other control number
10.1007/978-94-007-6597-9
Specific material designation
remote
System control number
  • (CKB)2670000000372388
  • (EBL)1592018
  • (OCoLC)843753219
  • (SSID)ssj0000894327
  • (PQKBManifestationID)11468832
  • (PQKBTitleCode)TC0000894327
  • (PQKBWorkID)10840768
  • (PQKB)11494756
  • (DE-He213)978-94-007-6597-9
  • (MiAaPQ)EBC1592018
  • (EXLCZ)992670000000372388

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