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DNA Alterations in Lynch Syndrome Advances in molecular diagnosis and genetic counselling /

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,...

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Corporate Author: SpringerLink (Online service)
Other Authors: Vogelsang, Matjaž. (Editor, http://id.loc.gov/vocabulary/relators/edt)
Language:English
Published: Dordrecht : Springer Netherlands : Imprint: Springer, 2013.
Edition:1st ed. 2013.
Subjects:
Cancer research.
Human genetics.
Molecular biology.
Gastroenterology .
Oncology  .
Cancer Research.
Human Genetics.
Molecular Medicine.
Gastroenterology.
Oncology.
Online Access:https://doi.org/10.1007/978-94-007-6597-9
Table of 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.

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