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Molecular Pathology and Diagnostics of Cancer pp 119–175Cite as

Molecular Pathology and Diagnostics of Colorectal Cancer

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Part of the book series: Cancer Growth and Progression ((CAGP,volume 16))

Abstract

Colorectal carcinoma (CRC) is the third most common malignancy in the United States and is the second leading cause of cancer deaths. Over the past 20 years, our knowledge of this CRC carcinogenesis has enormously increased; presently, several molecular diagnostic tests are commonly employed to analyze stage IV CRC and familiar CRC syndromes to determine treatment options and CRC inheritance and risk. More recently the number of CRC diagnostic tests has enormously expanded as our knowledge of CRC carcinogenesis has increased. Here, we review the standard tests employed in CRC, such as KRAS and Braf analyses, and also include less commonly employed tests related to familiar CRC and microsatellite instability. Last, we focus on possible future CRC genetic tests and testing modalities, focusing on techniques such as microarray and mass spectrophotometry.

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Abbreviations

8-oxo-G:

7,8-dihydro-8-oxo-deoxyguanosine

AFAP:

Attenuated familial adenomatous polyposis

APC:

Adenomatous polyposis

ARMS:

Amplification resistant mutation system

CRC:

Colorectal carcinoma

CSGE:

Conformation strand gel electrophoresis

EGFR:

Epidermal growth factor receptor

FAP:

Familial adenomatous polyposis

GTP:

Guanosine-5′-triphosphate

HNPCC:

Polyposis hereditary nonpolyposis colon cancer

HRM:

High-resolution melting

JPS:

Juvenile polyposis syndrome

MAP:

MYH-associated polyposis

mCRC:

Metastatic CRC

MLH1:

MutL homolog 1

MLH3:

MutS homolog 3

MLPA:

Multiplex ligation-dependent probe amplification

MSH2:

MutS homolog 2

MSH6:

MutS homolog 6

MSI:

Microsatellite instability

NCCN:

National Comprehensive Cancer Network

PCR:

Polymerase chain reaction

PJS:

Peutz-Jeghers syndrome

PMS2:

Postmeiotic segregation increased 2

PTT:

Protein truncation test

SSCP:

Single strand conformation polymorphism

T-ARMS-PCR:

Tetra-primer amplification refractory mutation system PCR

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Acknowledgements

We would like to thank Jennifer Burton for her help with proofreading this manuscript.

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Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Tulane University School of Medicine, 1430 Tulane Avenue, SL-79, New Orleans, LA, 70112, USA

    Rodney E. Shackelford

  2. Diagnostic & Experimental Pathology & Tailored Therapeutics Program, Eli Lilly & Company, Indianapolis, IN, USA

    Aejaz Nasir

  3. Department of Anatomic Pathology and Oncological Sciences, H. Lee Moffitt Cancer Center & Research Institute and University of South Florida, 12902 Magnolia Drive, Tampa, FL, 33612, USA

    Ardeshir Hakam & Domenico Coppola M.D.

  4. Department of Surgical Oncology, H. Lee Moffitt Cancer Center & Research Institute and University of South Florida, 12902 Magnolia Drive, Tampa, FL, 33612, USA

    David Shibata

  5. Gibbs Research Institute and Cancer Center, Spartanburg, SC, 29303, USA

    Timothy Yeatman

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  1. Rodney E. Shackelford
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  3. Ardeshir Hakam
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  6. Domenico Coppola M.D.
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Correspondence to Domenico Coppola M.D. .

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  1. Anatomic Pathology, University of South Florida, Moffitt Cancer Center, Tampa, Florida, USA

    Domenico Coppola

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Shackelford, R.E., Nasir, A., Hakam, A., Shibata, D., Yeatman, T., Coppola, D. (2014). Molecular Pathology and Diagnostics of Colorectal Cancer. In: Coppola, D. (eds) Molecular Pathology and Diagnostics of Cancer. Cancer Growth and Progression, vol 16. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7192-5_5

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