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Review
. 2011 Sep;1(4):297-311.
doi: 10.1158/2159-8290.CD-11-0110.

Clinical implementation of comprehensive strategies to characterize cancer genomes: opportunities and challenges

Laura E MacConaill  1 , Paul Van Hummelen, Matthew Meyerson, William C Hahn
Affiliations
Review

Clinical implementation of comprehensive strategies to characterize cancer genomes: opportunities and challenges

Laura E MacConaill et al. Cancer Discov. 2011 Sep.

Abstract

An increasing number of anticancer therapeutic agents target specific mutant proteins that are expressed by many different tumor types. Recent evidence suggests that the selection of patients whose tumors harbor specific genetic alterations identifies the subset of patients who are most likely to benefit from the use of such agents. As the number of genetic alterations that provide diagnostic and/or therapeutic information increases, the comprehensive characterization of cancer genomes will be necessary to understand the spectrum of distinct genomic alterations in cancer, to identify patients who are likely to respond to particular therapies, and to facilitate the selection of treatment modalities. Rapid developments in new technologies for genomic analysis now provide the means to perform comprehensive analyses of cancer genomes. In this article, we review the current state of cancer genome analysis and discuss the challenges and opportunities necessary to implement these technologies in a clinical setting.

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Conflict of interest statement

Conflict of interests: Laura E MacConaill: No Conflicts of Interests

Paul Van Hummelen: No Conflicts of Interests

Matthew Meyerson: Consultant for and received research support from Novartis. Founding advisor of, consultant for, and equity holder in Foundation Medicine. Co-inventor of patent on use of EGFR mutations for lung cancer diagnosis, licensed to Genzyme Genetics/Labcorp.

William C. Hahn: Consultant for Novartis and Thermo-Fisher. Received research support from Novartis

Figures

Figure 1
Figure 1. Cycle of personalized cancer medicine
Genomic technologies will increasingly be used in the generation of a profile of cancer alterations for an individual. This profile can be used (for example) to stratify patients for clinical trials with agents targeted to these specific alterations, thus leading to more effective treatment strategies. The paradigm of personalized cancer medicine cycles through to improve diagnosis and prognosis for each individual patient.
Figure 2
Figure 2. Genome alterations, current tests and future technologies
The major classes of genomic alterations that give rise to cancer, exemplary cancer genes for each category, and the current and emerging clinical technologies to detect these various types of alterations. TS- tumor suppressor; CML- chronic myelogenous leukemia; PCR- polymerase chain reaction; FISH- fluorescence in situ hybridization; IHC- immunohistochemistry.
Figure 3
Figure 3. Technological advances and concomitant developments in cancer biology
A timeline of the technological advances impacting cancer research in the past 100 years. The landmark discoveries enabled by these technologies are indicated above the line, and the number of these landmarks has increased dramatically in the past 10 years, due in large part to next-generation sequencing capabilities.
See this image and copyright information in PMC

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