Selection of extreme phenotypes the role of clini

Authors: José Luis PérezGracia Alfonso Gúrpide María Gloria RuizIlundain Carlos Alfaro Alegría Ramon Colomer Jesús GarcíaFoncillas Ignacio Melero Bermejo

Publish Date: 2010/03/27

Volume: 12, Issue: 3, Pages: 174-180

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Abstract

Systematic collection of phenotypes and their correlation with molecular data has been proposed as a useful method to advance in the study of disease Although some databases for animal species are being developed progress in humans is slow probably due to the multifactorial origin of many human diseases and to the intricacy of accurately classifying phenotypes among other factors An alternative approach has been to identify and to study individuals or families with very characteristic clinically relevant phenotypes This strategy has shown increased efficiency to identify the molecular features underlying such phenotypes While on most occasions the subjects selected for these studies presented harmful phenotypes a few studies have been performed in individuals with very favourable phenotypes The consistent results achieved suggest that it seems logical to further develop this strategy as a methodology to study human disease including cancer The identification and the study with highthroughput techniques of individuals showing a markedly decreased risk of developing cancer or of cancer patients presenting either an unusually favourable prognosis or striking responses following a specific treatment might be promising ways to maximize the yield of this approach and to reveal the molecular causes that explain those phenotypes and thus highlight useful therapeutic targets This manuscript reviews the current status of selection of extreme phenotypes in cancer research and provides directions for future development of this methodologyThis article is published under an open access license Please check the Copyright Information section for details of this license and what reuse is permitted If your intended use exceeds what is permitted by the license or if you are unable to locate the licence and reuse information please contact the Rights and Permissions team

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