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The translation of cancer genomics: time for a revolution in clinical cancer care

The introduction of next-generation sequencing technologies has dramatically impacted the life sciences, perhaps most profoundly in the area of cancer genomics. Clinical applications of next-generation sequencing and associated methods are emerging from ongoing large-scale discovery projects that ha...

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Autor principal: Mardis, Elaine R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062062/
https://www.ncbi.nlm.nih.gov/pubmed/25031616
http://dx.doi.org/10.1186/gm539
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author Mardis, Elaine R
author_facet Mardis, Elaine R
author_sort Mardis, Elaine R
collection PubMed
description The introduction of next-generation sequencing technologies has dramatically impacted the life sciences, perhaps most profoundly in the area of cancer genomics. Clinical applications of next-generation sequencing and associated methods are emerging from ongoing large-scale discovery projects that have catalogued hundreds of genes as having a role in cancer susceptibility, onset and progression. For example, discovery cancer genomics has confirmed that many of the same genes are altered by mutation, copy number gain or loss, or structural variation across multiple tumor types, resulting in a gain or loss of function that likely contributes to cancer development in these tissues. Beyond these frequently mutated genes, we now know there is a ‘long tail’ of less frequently mutated, but probably important, genes that play roles in cancer onset or progression. Here, I discuss some of the remaining barriers to clinical translation, and look forward to new applications of these technologies in cancer care.
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spelling pubmed-40620622015-03-26 The translation of cancer genomics: time for a revolution in clinical cancer care Mardis, Elaine R Genome Med Opinion The introduction of next-generation sequencing technologies has dramatically impacted the life sciences, perhaps most profoundly in the area of cancer genomics. Clinical applications of next-generation sequencing and associated methods are emerging from ongoing large-scale discovery projects that have catalogued hundreds of genes as having a role in cancer susceptibility, onset and progression. For example, discovery cancer genomics has confirmed that many of the same genes are altered by mutation, copy number gain or loss, or structural variation across multiple tumor types, resulting in a gain or loss of function that likely contributes to cancer development in these tissues. Beyond these frequently mutated genes, we now know there is a ‘long tail’ of less frequently mutated, but probably important, genes that play roles in cancer onset or progression. Here, I discuss some of the remaining barriers to clinical translation, and look forward to new applications of these technologies in cancer care. BioMed Central 2014-03-26 /pmc/articles/PMC4062062/ /pubmed/25031616 http://dx.doi.org/10.1186/gm539 Text en Copyright © 2014 Mardis; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/4.0 The licensee has exclusive rights to distribute this article, in any medium, for 12 months following its publication. After this time, the article is available under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Opinion
Mardis, Elaine R
The translation of cancer genomics: time for a revolution in clinical cancer care
title The translation of cancer genomics: time for a revolution in clinical cancer care
title_full The translation of cancer genomics: time for a revolution in clinical cancer care
title_fullStr The translation of cancer genomics: time for a revolution in clinical cancer care
title_full_unstemmed The translation of cancer genomics: time for a revolution in clinical cancer care
title_short The translation of cancer genomics: time for a revolution in clinical cancer care
title_sort translation of cancer genomics: time for a revolution in clinical cancer care
topic Opinion
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062062/
https://www.ncbi.nlm.nih.gov/pubmed/25031616
http://dx.doi.org/10.1186/gm539
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