Lynch / Tautu Recent Progress in the Genetic Epidemiology of Cancer

Erscheinungsjahr 2012
ISBN: 978-3-642-75993-2
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 162 Seiten, eBook

The discipline of genetic epidemiology pertains to the vertical transmission of the susceptibility (predisposition) to a complex disease in a structured population. This statement meets halfway 1 the broad definitiongiven by N. E. Morton and S. c. Chung in 1978 2 and the concise one given by M. -C. King et al. in 1984. 1t pinpoints the fundamental genetic hypothesis, namely, the existence of an inherited condition that predisposes an individual to a specific disease, and the corresponding subject ofinvestigation, the family. Thus, the genetic epidemiological situation consists of three basic elements: (l) the genealogical structure, (2) the mode of inherit ance (i. e. , the "genetic model") for the trait of interest, and (3) the observable phenotypes of susceptibility. It is clear that genetic epidemiology is a research field posi tioned at the intersection of molecular genetics, population gen etics, and clinical genetics. Perhaps the genealogical tree should be its central element: it evidences something forgotten in mole cular genetics, namely the relationships, and associations with probabilistic and statistical concepts from population genetics. It offers a structure and a "history" for those clinicians studying familial diseases who are searching for genetic determinants of susceptibility. The genetic epidemiologist begins his analysis with a point on this genealogical tree, namely the proband, and attempts to carry out (nonrandom) "ascertainment sampling" by using a strategy that depends on the form and dimension (extended pedigrees versus nuclear families) of the tree.

Zielgruppe

Research

Autoren/Hrsg.

Lynch, Henry T.

Tautu, Petre

Inhaltsverzeichnis

I. Introduction.- Genetics of Common Tumors.- Pitfalls and Prospects in Genetic Epidemiology of Cancer.- II. Studies on Genetic Epidemiology.- Familial Susceptibility to Breast Cancer.- Linkage Mapping of Cancer Susceptibility Genes.- Genetic Epidemiology of Retinoblastoma.- Genetic Epidemiology of Cancer and Predisposing Lesions.- Search for Genetic Factors in the Etiology of Breast Cancer.- Molecular, Cytogenetic and Linkage Analysis of Chromosome 11p Regions Involved in Wilms’ Tumour and Associated Congenital Diseases.- Analysis of Association in Nuclear Families.- Ascertainment Problems in Family Data: Methodological Aspects.- Polygenic vs Monogenic Inheritance of Dysplastic Nevi and Malignant Melanoma: Yesterday’s Debate or the Answer of Tomorrow?.- Genetic Epidemiology and the Familial Atypical Multiple Mole Melanoma Syndrome.- III. Computer Applications.- Computer Simulation Methods in Human Linkage Analysis.- Computer Programs for Linkage Analysis.- A Comprehensive Pedigree Analysis Tool: FAP (Family Analysis Package).- List of Abbreviations.- Subjeet Index.