LEADER 03478nam 2200589Ia 450 001 9910437829503321 005 20200520144314.0 010 $a94-007-6597-5 024 7 $a10.1007/978-94-007-6597-9 035 $a(CKB)2670000000372388 035 $a(EBL)1592018 035 $a(OCoLC)843753219 035 $a(SSID)ssj0000894327 035 $a(PQKBManifestationID)11468832 035 $a(PQKBTitleCode)TC0000894327 035 $a(PQKBWorkID)10840768 035 $a(PQKB)11494756 035 $a(DE-He213)978-94-007-6597-9 035 $a(MiAaPQ)EBC1592018 035 $a(PPN)170494950 035 $a(EXLCZ)992670000000372388 100 $a20130522d2013 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aDNA alterations in Lynch Syndrome $eadvances in molecular diagnosis and genetic counselling /$fMatjaz Vogelsang, editor 205 $a1st ed. 2013. 210 $aDordrecht ;$aNew York $cSpringer$d2013 215 $a1 online resource (202 p.) 300 $aDescription based upon print version of record. 311 $a94-017-8458-2 311 $a94-007-6596-7 320 $aIncludes bibliographical references and index. 327 $aPreface -- 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. 330 $aLynch 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. 606 $aMolecular diagnosis 606 $aGenetic counseling 606 $aSyndromes 615 0$aMolecular diagnosis. 615 0$aGenetic counseling. 615 0$aSyndromes. 676 $a614.5999 701 $aVogelsang$b Matjaz$01761216 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910437829503321 996 $aDNA alterations in Lynch Syndrome$94200520 997 $aUNINA