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008			130508s2013 ne | s |||| 0|eng d
020			_a9789400765979
024	7		_a10.1007/978-94-007-6597-9 _2doi
040			_dES-MaUEC
050		4	_aRC280.C6 _bV644 2013
100	1		_aVogelsang, MatjaÅ{uE7E5}editor. _eeditor literario _986148 _0Local
245	1	0	_aDNA Alterations in Lynch Syndrome : _bAdvances in molecular diagnosis and genetic counselling _cedited by MatjaÅ{u05AF}gelsang.
260			_aDordrecht, Netherlands _bSpringer International Publishing _c2013
300			_a1 recurso en línea (X, 195 p.) _b17 ilustraciones, 10 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
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		7	_2embne _9182269 _aColon _xCáncer
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-94-007-6597-9 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907			_a.b12824380 _b10-10-17 _c01-10-14
942			_2lcc _cLE
945			_aRC280.C6 V644 2013 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11553595 _z06-04-17
988			_aEBSPRINGER
998			_am _a_alco _a_vill _b - - _cm _dz _e- _feng _gne _h0