Insights from Large-Scale Cancer Genome Sequencing

Elaine R. Mardis

doi:10.1146/annurev-cancerbio-050216-122035

Annual Review of Cancer Biology

Volume 2, 2018

Review Article

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Insights from Large-Scale Cancer Genome Sequencing

Elaine R. Mardis^1,2
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Affiliations: ¹Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA; email: [email protected] ²Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA
Vol. 2:429-444 (Volume publication date March 2018) https://doi.org/10.1146/annurev-cancerbio-050216-122035
© Annual Reviews

Abstract

The basic catalog of DNA-based alterations that contribute to the onset and progression of cancer has been largely elucidated due to the results obtained from the combination of massively parallel sequencing and computational analysis methods applied to thousands of cancer samples. These combined approaches have provided novel and surprising insights into the myriad ways that DNA-level disruptions lead to activation and inactivation of cellular pathways, thereby altering the carefully controlled growth and division of normal cells and rendering them cancerous. This review presents genomic insights gained from these large-scale studies and highlights how this new knowledge will be translated in the future into improved clinical care and monitoring of cancer patients.

Keyword(s): cancer genomics, massively parallel sequencing, somatic mutation, structural rearrangement

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2018-03-04

2025-04-20

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