Cargando…

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,...

Descripción completa

Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Vogelsang, Matjaž (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Dordrecht : Springer Netherlands : Imprint: Springer, 2013.
Edición:1st ed. 2013.
Temas:
Acceso en línea:Texto Completo

MARC

LEADER 00000nam a22000005i 4500
001 978-94-007-6597-9
003 DE-He213
005 20220124181706.0
007 cr nn 008mamaa
008 130508s2013 ne | s |||| 0|eng d
020 |a 9789400765979  |9 978-94-007-6597-9 
024 7 |a 10.1007/978-94-007-6597-9  |2 doi 
050 4 |a RC261-271 
072 7 |a MJCL  |2 bicssc 
072 7 |a MED062000  |2 bisacsh 
072 7 |a MJCL  |2 thema 
082 0 4 |a 571.978  |2 23 
082 0 4 |a 616.994  |2 23 
245 1 0 |a DNA Alterations in Lynch Syndrome  |h [electronic resource] :  |b Advances in molecular diagnosis and genetic counselling /  |c edited by Matjaž Vogelsang. 
250 |a 1st ed. 2013. 
264 1 |a Dordrecht :  |b Springer Netherlands :  |b Imprint: Springer,  |c 2013. 
300 |a X, 195 p.  |b online resource. 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
338 |a online resource  |b cr  |2 rdacarrier 
347 |a text file  |b PDF  |2 rda 
505 0 |a 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. 
520 |a 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, 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 |a Cancer. 
650 0 |a Medical genetics. 
650 0 |a Medicine-Research. 
650 0 |a Biology-Research. 
650 0 |a Gastroenterology. 
650 0 |a Oncology. 
650 1 4 |a Cancer Biology. 
650 2 4 |a Medical Genetics. 
650 2 4 |a Biomedical Research. 
650 2 4 |a Gastroenterology. 
650 2 4 |a Oncology. 
700 1 |a Vogelsang, Matjaž.  |e editor.  |4 edt  |4 http://id.loc.gov/vocabulary/relators/edt 
710 2 |a SpringerLink (Online service) 
773 0 |t Springer Nature eBook 
776 0 8 |i Printed edition:  |z 9789400765986 
776 0 8 |i Printed edition:  |z 9789401784580 
776 0 8 |i Printed edition:  |z 9789400765962 
856 4 0 |u https://doi.uam.elogim.com/10.1007/978-94-007-6597-9  |z Texto Completo 
912 |a ZDB-2-SBL 
912 |a ZDB-2-SXB 
950 |a Biomedical and Life Sciences (SpringerNature-11642) 
950 |a Biomedical and Life Sciences (R0) (SpringerNature-43708)