000			03333nam a22004815i 4500
001			978-94-007-6597-9
003			DE-He213
005			20140220082943.0
007			cr nn 008mamaa
008			130508s2013 ne | s |||| 0|eng d
020			_a9789400765979 _9978-94-007-6597-9
024	7		_a10.1007/978-94-007-6597-9 _2doi
050		4	_aRC261-271
072		7	_aMJCL _2bicssc
072		7	_aMED062000 _2bisacsh
082	0	4	_a614.5999 _223
100	1		_aVogelsang, Matjaž. _eeditor.
245	1	0	_aDNA Alterations in Lynch Syndrome _h[electronic resource] : _bAdvances in molecular diagnosis and genetic counselling / _cedited by Matjaž Vogelsang.
264		1	_aDordrecht : _bSpringer Netherlands : _bImprint: Springer, _c2013.
300			_aX, 195 p. 17 illus., 10 illus. in color. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_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.
520			_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.
650		0	_aMedicine.
650		0	_aOncology.
650		0	_aHuman genetics.
650		0	_aGastroenterology.
650	1	4	_aBiomedicine.
650	2	4	_aCancer Research.
650	2	4	_aHuman Genetics.
650	2	4	_aMolecular Medicine.
650	2	4	_aGastroenterology.
650	2	4	_aOncology.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9789400765962
856	4	0	_uhttp://dx.doi.org/10.1007/978-94-007-6597-9
912			_aZDB-2-SBL
999			_c99930 _d99930