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

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Vogelsang, Matjaž (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Dordrecht : Springer Netherlands : Imprint: Springer, 2013.
• Θέματα: Medicine.; Cancer research.; Human genetics.; Molecular biology.; Gastroenterology.; Oncology.; Biomedicine.; Cancer Research.; Human Genetics.; Molecular Medicine.

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,...

Πίνακας περιεχομένων:

• 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.