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Discovery of Cancer Susceptibility Genes: Study Designs, Analytic Approaches, and Trends in Technology

Discovery of Cancer Susceptibility Genes: Study Designs, Analytic Approaches, and Trends in... Determining the genetic causes of cancers has immense public health benefits, ranging from prevention to earlier detection and treatment of disease. Although a number of cancer susceptibility genes have been successfully identified, design and analytic issues remain that challenge the current paradigm of gene discovery. Some examples are the definition and measurement of cancer phenotype, the use of intermediate end points, the choice of sample (e.g., affected relative pairs versus large extended pedigrees), the choice of analytic method (e.g., parametric logarithm of the odds (LOD) score method versus model-free methods), and the influence of gene-environment interaction on linkage analysis. Furthermore, association methods, based on either the traditional case-control study design or family-based controls, are popular choices to evaluate candidate genes or screen for linkage disequilibrium. Finally, the study design and analytic methods for gene discovery are determined to some extent by what genomic technology is feasible within the laboratory. Many of the main issues related to gene discovery, as well as trends in genomic technology that will impact on gene discovery, are discussed from the perspective of their strengths and weaknesses, pointing to areas in need of further work. Oxford University Press « Previous | Next Article » Table of Contents This Article J Natl Cancer Inst Monogr (1999) 1999 (26): 1-16. This article appears in: Innovative Study Designs and Analytic Approaches to the Genetic Epidemiology of Cancer » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications I. 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Search this journal: Advanced » Current Issue May 2015 2015 (51) Alert me to new issues The Journal About this journal Rights & Permissions We are mobile – find out more Journals Career Network Editor-in-Chief Carmen J. Allegra View the JNCI editorial board For Authors Instructions to authors Author Self Archiving Policy Alerting Services Email table of contents CiteTrack XML RSS feed Corporate Services Advertising sales Reprints var taxonomies = ("MED00300"); Most Most Read Clinical Practice Guidelines on the Use of Integrative Therapies as Supportive Care in Patients Treated for Breast Cancer Descriptive Review of the Literature on Breast Cancer Outcomes: 1990 Through 2000 Prevalence of Depression in Patients With Cancer Biology of Oral Mucosa and Esophagus Chapter 6: Estrogen Metabolism by Conjugation » View all Most Read articles Most Cited Chapter 1: Human Papillomavirus and Cervical Cancer--Burden and Assessment of Causality Chapter 4: Estrogens as Endogenous Genotoxic Agents--DNA Adducts and Mutations Prevalence of Depression in Patients With Cancer Preoperative Chemotherapy in Patients With Operable Breast Cancer: Nine-Year Results From National Surgical Adjuvant Breast and Bowel Project B-18 Overview of the Randomized Trials of Radiotherapy in Ductal Carcinoma In Situ of the Breast » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. 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Discovery of Cancer Susceptibility Genes: Study Designs, Analytic Approaches, and Trends in Technology

Discovery of Cancer Susceptibility Genes: Study Designs, Analytic Approaches, and Trends in Technology

JNCI Monographs , Volume 1999 (26) – Dec 1, 1999

Abstract

Determining the genetic causes of cancers has immense public health benefits, ranging from prevention to earlier detection and treatment of disease. Although a number of cancer susceptibility genes have been successfully identified, design and analytic issues remain that challenge the current paradigm of gene discovery. Some examples are the definition and measurement of cancer phenotype, the use of intermediate end points, the choice of sample (e.g., affected relative pairs versus large extended pedigrees), the choice of analytic method (e.g., parametric logarithm of the odds (LOD) score method versus model-free methods), and the influence of gene-environment interaction on linkage analysis. Furthermore, association methods, based on either the traditional case-control study design or family-based controls, are popular choices to evaluate candidate genes or screen for linkage disequilibrium. Finally, the study design and analytic methods for gene discovery are determined to some extent by what genomic technology is feasible within the laboratory. Many of the main issues related to gene discovery, as well as trends in genomic technology that will impact on gene discovery, are discussed from the perspective of their strengths and weaknesses, pointing to areas in need of further work. Oxford University Press « Previous | Next Article » Table of Contents This Article J Natl Cancer Inst Monogr (1999) 1999 (26): 1-16. This article appears in: Innovative Study Designs and Analytic Approaches to the Genetic Epidemiology of Cancer » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications I. GENE DISCOVERY PANEL Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Schaid, D. J. Articles by Dahl, C. Search for related content PubMed PubMed citation Articles by Schaid, D. J. Articles by Buetow, K. Articles by Weeks, D. E. Articles by Wijsman, E. Articles by Guo, S. W. Articles by Ott, J. Articles by Dahl, C. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? Search this journal: Advanced » Current Issue May 2015 2015 (51) Alert me to new issues The Journal About this journal Rights & Permissions We are mobile – find out more Journals Career Network Editor-in-Chief Carmen J. Allegra View the JNCI editorial board For Authors Instructions to authors Author Self Archiving Policy Alerting Services Email table of contents CiteTrack XML RSS feed Corporate Services Advertising sales Reprints var taxonomies = ("MED00300"); Most Most Read Clinical Practice Guidelines on the Use of Integrative Therapies as Supportive Care in Patients Treated for Breast Cancer Descriptive Review of the Literature on Breast Cancer Outcomes: 1990 Through 2000 Prevalence of Depression in Patients With Cancer Biology of Oral Mucosa and Esophagus Chapter 6: Estrogen Metabolism by Conjugation » View all Most Read articles Most Cited Chapter 1: Human Papillomavirus and Cervical Cancer--Burden and Assessment of Causality Chapter 4: Estrogens as Endogenous Genotoxic Agents--DNA Adducts and Mutations Prevalence of Depression in Patients With Cancer Preoperative Chemotherapy in Patients With Operable Breast Cancer: Nine-Year Results From National Surgical Adjuvant Breast and Bowel Project B-18 Overview of the Randomized Trials of Radiotherapy in Ductal Carcinoma In Situ of the Breast » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. Online ISSN 1745-6614 - Print ISSN 1052-6773 Copyright © 2015 Oxford University Press Oxford Journals Oxford University Press Site Map Privacy Policy Cookie Policy Legal Notices Frequently Asked Questions Other Oxford University Press sites: Oxford University Press Oxford Journals China Oxford Journals Japan Academic & Professional books Children's & Schools Books Dictionaries & Reference Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks International Education Unit Law Medicine Music Online Products & Publishing Oxford Bibliographies Online Oxford Dictionaries Online Oxford English Dictionary Oxford Language Dictionaries Online Oxford Scholarship Online Reference Rights and Permissions Resources for Retailers & Wholesalers Resources for the Healthcare Industry Very Short Introductions World's Classics function fnc_onDomLoaded() { var query_context = getQueryContext(); PF_initOIUnderbar(query_context,":QS:default","","JRN"); PF_insertOIUnderbar(0); }; if (window.addEventListener) { window.addEventListener('load', fnc_onDomLoaded, false); } else if (window.attachEvent) { window.attachEvent('onload', fnc_onDomLoaded); } var gaJsHost = (("https:" == document.location.protocol) ? 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Oxford University Press
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Copyright © 2015 Oxford University Press
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1745-6614
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jncimono;1999/26/1
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Abstract

Determining the genetic causes of cancers has immense public health benefits, ranging from prevention to earlier detection and treatment of disease. Although a number of cancer susceptibility genes have been successfully identified, design and analytic issues remain that challenge the current paradigm of gene discovery. Some examples are the definition and measurement of cancer phenotype, the use of intermediate end points, the choice of sample (e.g., affected relative pairs versus large extended pedigrees), the choice of analytic method (e.g., parametric logarithm of the odds (LOD) score method versus model-free methods), and the influence of gene-environment interaction on linkage analysis. Furthermore, association methods, based on either the traditional case-control study design or family-based controls, are popular choices to evaluate candidate genes or screen for linkage disequilibrium. Finally, the study design and analytic methods for gene discovery are determined to some extent by what genomic technology is feasible within the laboratory. Many of the main issues related to gene discovery, as well as trends in genomic technology that will impact on gene discovery, are discussed from the perspective of their strengths and weaknesses, pointing to areas in need of further work. Oxford University Press « Previous | Next Article » Table of Contents This Article J Natl Cancer Inst Monogr (1999) 1999 (26): 1-16. This article appears in: Innovative Study Designs and Analytic Approaches to the Genetic Epidemiology of Cancer » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications I. GENE DISCOVERY PANEL Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Schaid, D. J. Articles by Dahl, C. Search for related content PubMed PubMed citation Articles by Schaid, D. J. Articles by Buetow, K. Articles by Weeks, D. E. Articles by Wijsman, E. Articles by Guo, S. W. Articles by Ott, J. Articles by Dahl, C. Related Content Load related web page information Share Email this article CiteULike Delicious Facebook Google+ Mendeley Twitter What's this? Search this journal: Advanced » Current Issue May 2015 2015 (51) Alert me to new issues The Journal About this journal Rights & Permissions We are mobile – find out more Journals Career Network Editor-in-Chief Carmen J. Allegra View the JNCI editorial board For Authors Instructions to authors Author Self Archiving Policy Alerting Services Email table of contents CiteTrack XML RSS feed Corporate Services Advertising sales Reprints var taxonomies = ("MED00300"); Most Most Read Clinical Practice Guidelines on the Use of Integrative Therapies as Supportive Care in Patients Treated for Breast Cancer Descriptive Review of the Literature on Breast Cancer Outcomes: 1990 Through 2000 Prevalence of Depression in Patients With Cancer Biology of Oral Mucosa and Esophagus Chapter 6: Estrogen Metabolism by Conjugation » View all Most Read articles Most Cited Chapter 1: Human Papillomavirus and Cervical Cancer--Burden and Assessment of Causality Chapter 4: Estrogens as Endogenous Genotoxic Agents--DNA Adducts and Mutations Prevalence of Depression in Patients With Cancer Preoperative Chemotherapy in Patients With Operable Breast Cancer: Nine-Year Results From National Surgical Adjuvant Breast and Bowel Project B-18 Overview of the Randomized Trials of Radiotherapy in Ductal Carcinoma In Situ of the Breast » View all Most Cited articles Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department. Online ISSN 1745-6614 - Print ISSN 1052-6773 Copyright © 2015 Oxford University Press Oxford Journals Oxford University Press Site Map Privacy Policy Cookie Policy Legal Notices Frequently Asked Questions Other Oxford University Press sites: Oxford University Press Oxford Journals China Oxford Journals Japan Academic & Professional books Children's & Schools Books Dictionaries & Reference Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks International Education Unit Law Medicine Music Online Products & Publishing Oxford Bibliographies Online Oxford Dictionaries Online Oxford English Dictionary Oxford Language Dictionaries Online Oxford Scholarship Online Reference Rights and Permissions Resources for Retailers & Wholesalers Resources for the Healthcare Industry Very Short Introductions World's Classics function fnc_onDomLoaded() { var query_context = getQueryContext(); PF_initOIUnderbar(query_context,":QS:default","","JRN"); PF_insertOIUnderbar(0); }; if (window.addEventListener) { window.addEventListener('load', fnc_onDomLoaded, false); } else if (window.attachEvent) { window.attachEvent('onload', fnc_onDomLoaded); } var gaJsHost = (("https:" == document.location.protocol) ? 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Journal

JNCI MonographsOxford University Press

Published: Dec 1, 1999

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