Molecular Pathology and Diagnostics of Colorectal Cancer

  • Rodney E. Shackelford
  • Aejaz Nasir
  • Ardeshir Hakam
  • David Shibata
  • Timothy Yeatman
  • Domenico CoppolaEmail author
Part of the Cancer Growth and Progression book series (CAGP, volume 16)


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.


Colorectal carcinoma KRAS BRAF FAP UGT1A1 NHPCC PJS APC Mutation Hamartomatous polyposis syndromes 





Attenuated familial adenomatous polyposis


Adenomatous polyposis


Amplification resistant mutation system


Colorectal carcinoma


Conformation strand gel electrophoresis


Epidermal growth factor receptor


Familial adenomatous polyposis




Polyposis hereditary nonpolyposis colon cancer


High-resolution melting


Juvenile polyposis syndrome


MYH-associated polyposis


Metastatic CRC


MutL homolog 1


MutS homolog 3


Multiplex ligation-dependent probe amplification


MutS homolog 2


MutS homolog 6


Microsatellite instability


National Comprehensive Cancer Network


Polymerase chain reaction


Peutz-Jeghers syndrome


Postmeiotic segregation increased 2


Protein truncation test


Single strand conformation polymorphism


Tetra-primer amplification refractory mutation system PCR



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


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Rodney E. Shackelford
    • 1
  • Aejaz Nasir
    • 2
  • Ardeshir Hakam
    • 3
  • David Shibata
    • 4
  • Timothy Yeatman
    • 5
  • Domenico Coppola
    • 3
    Email author
  1. 1.Department of Pathology and Laboratory MedicineTulane University School of MedicineNew OrleansUSA
  2. 2.Diagnostic & Experimental Pathology & Tailored Therapeutics ProgramEli Lilly & CompanyIndianapolisUSA
  3. 3.Department of Anatomic Pathology and Oncological SciencesH. Lee Moffitt Cancer Center & Research Institute and University of South FloridaTampaUSA
  4. 4.Department of Surgical OncologyH. Lee Moffitt Cancer Center & Research Institute and University of South FloridaTampaUSA
  5. 5.Gibbs Research Institute and Cancer CenterSpartanburgUSA

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