DNA alterations in lynch syndrome: advances in molecular diagnosis and genetic counselling
Gespeichert in:
| Format: | Elektronisch E-Book |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Dordrecht
Springer Netherlands
2013
|
| Schlagworte: | |
| Online-Zugang: | FAN01 UBT01 Volltext Inhaltsverzeichnis Abstract |
| Beschreibung: | 1 Online-Ressource |
| ISBN: | 9789400765962 9789400765979 |
| DOI: | 10.1007/978-94-007-6597-9 |
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Datensatz im Suchindex
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| adam_text | DNA ALTERATIONS IN LYNCH SYNDROME
/
: 2013
TABLE OF CONTENTS / INHALTSVERZEICHNIS
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
DIESES SCHRIFTSTUECK WURDE MASCHINELL ERZEUGT.
DNA ALTERATIONS IN LYNCH SYNDROME
/
: 2013
ABSTRACT / INHALTSTEXT
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
DIESES SCHRIFTSTUECK WURDE MASCHINELL ERZEUGT.
|
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| spelling | DNA alterations in lynch syndrome advances in molecular diagnosis and genetic counselling Matjaž Vogelsang, ed. Dordrecht Springer Netherlands 2013 1 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Medizin Medicine Oncology Human genetics Gastroenterology Vogelsang, Matjaž Sonstige oth https://doi.org/10.1007/978-94-007-6597-9 Verlag Volltext Springer Fremddatenuebernahme application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026042168&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Springer Fremddatenuebernahme application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026042168&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Abstract |
| spellingShingle | DNA alterations in lynch syndrome advances in molecular diagnosis and genetic counselling Medizin Medicine Oncology Human genetics Gastroenterology |
| title | DNA alterations in lynch syndrome advances in molecular diagnosis and genetic counselling |
| title_auth | DNA alterations in lynch syndrome advances in molecular diagnosis and genetic counselling |
| title_exact_search | DNA alterations in lynch syndrome advances in molecular diagnosis and genetic counselling |
| title_full | DNA alterations in lynch syndrome advances in molecular diagnosis and genetic counselling Matjaž Vogelsang, ed. |
| title_fullStr | DNA alterations in lynch syndrome advances in molecular diagnosis and genetic counselling Matjaž Vogelsang, ed. |
| title_full_unstemmed | DNA alterations in lynch syndrome advances in molecular diagnosis and genetic counselling Matjaž Vogelsang, ed. |
| title_short | DNA alterations in lynch syndrome |
| title_sort | dna alterations in lynch syndrome advances in molecular diagnosis and genetic counselling |
| title_sub | advances in molecular diagnosis and genetic counselling |
| topic | Medizin Medicine Oncology Human genetics Gastroenterology |
| topic_facet | Medizin Medicine Oncology Human genetics Gastroenterology |
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