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Genomic Analysis

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Book cover Molecular Pathology in Cancer Research

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Abstract

Cancer is driven by a plethora of molecular genetic events, including germline alterations that increase individual risk of developing cancer, as well as the somatic aberrations that are selected for in tumor development. As our understanding of these factors increases, it is imperative to translate findings rapidly to the clinic using methodology that is economical, yet sensitive and specific to the types of event to be detected. In the past 20 years there have been rapid advances in technology, from karyotyping to array-based and now sequencing-based methods, which have led to vastly increased genomic resolution and sample throughput. Each method has certain advantages and disadvantages relating to cost, speed, sensitivity, type of aberration to be detected, and complexity of analysis. The choice of technique for molecular pathology depends on the disease context and specific application required. Here we review common classes of molecular genetic events occurring in cancer genomes and the most appropriate methods to detect these changes. The impact of molecular features on cancer risk, diagnosis, prognosis, and determining the most appropriate therapy are discussed.

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Acknowledgements

This work was supported by the Australian National Health and Medical Research Council (NHMRC), the Cancer Council Victoria (CCV), and the Emer Casey Research Foundation.

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Authors and Affiliations

  1. Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, VIC, Australia

    Sally M. Hunter, Ian G. Campbell & Kylie L. Gorringe

  2. The University of Queensland, UQCCR, Herston, QLD, Australia

    Amy E. McCart Reed

  3. Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, VIC, Australia

    Ian G. Campbell & Kylie L. Gorringe

  4. Department of Pathology, University of Melbourne, Parkville, VIC, Australia

    Ian G. Campbell & Kylie L. Gorringe

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  1. Sally M. Hunter
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  2. Amy E. McCart Reed
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  4. Kylie L. Gorringe
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Correspondence to Kylie L. Gorringe .

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Editors and Affiliations

  1. UQ Centre for Clinical Research, The Royal Brisbane and Women’s Hospital, University of Queensland and Pathology Queensland, Brisbane, Queensland, Australia

    Sunil R. Lakhani

  2. Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, Victoria, Australia

    Stephen B. Fox

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Hunter, S.M., McCart Reed, A.E., Campbell, I.G., Gorringe, K.L. (2016). Genomic Analysis. In: Lakhani, S., Fox, S. (eds) Molecular Pathology in Cancer Research. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-6643-1_5

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