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Research Paper

Somatic mutations to CSMD1 in colorectal adenocarcinomas

Christopher Farrell, Hampton Crimm, Paul Meeh, Randal Croshaw, Thomas Barbar, Jacob J. Vandersteenhoven, William Butler and Phillip Buckhaults

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The short arm of chromosome 8 is frequently deleted in advanced human colorectal cancers, suggesting the presence of one or more tumor suppressor genes having a major role in tumor progression and metastasis. Comprehensive sequencing of over 18,000 genes in colon and breast cancers identified somatic mutations in CUB and Sushi Domains 1 (CSMD1) which is located on the p arm of chromosome 8. In this report, we describe a novel, robust, high-throughput gene mutation profiling strategy based on massively parallel picotiter plate pyrosequencing and have used this approach to identify additional somatic mutations to CSMD1 in early and late stage colorectal cancers. Using this strategy, we identified five nonsynonymous somatic mutations in CSMD1 among 28 colorectal cancers. Interestingly, these mutations occurred predominantly in advanced colorectal tumors, suggesting a role for CSMD1 in the development of late-stage metastatic disease.

Authors

Christopher Farrell

Department of Pathology, Microbiology and Immunology, and the South Carolina Cancer Center, The University of South Carolina, School of Medicine, Columbia, South Carolina 29203, USA

Hampton Crimm

Department of Pathology, Microbiology and Immunology, and the South Carolina Cancer Center, The University of South Carolina, School of Medicine, Columbia, South Carolina 29203, USA

Paul Meeh

Department of Pathology, Microbiology and Immunology, and the South Carolina Cancer Center, The University of South Carolina, School of Medicine, Columbia, South Carolina 29203, USA

Randal Croshaw

Department of Pathology, Microbiology and Immunology, and the South Carolina Cancer Center, The University of South Carolina, School of Medicine, Columbia, South Carolina 29203, USA

Thomas Barbar

Ludwig Center and Howard Hughes Medical Institute, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore Maryland 21231, USA

Jacob J. Vandersteenhoven

Professional Pathology Services, P.C., Palmetto Health Richland Memorial Hospital, Columbia, South Carolina 29203, USA

William Butler

South Carolina Oncology Associates, Columbia South Carolina, 29210, USA

Phillip Buckhaults

Department of Pathology, Microbiology and Immunology, and the South Carolina Cancer Center, The University of South Carolina, School of Medicine, Columbia, South Carolina 29203, USA

This is an open-access article

 Download PDF

If the document does not open, please right-click on the link (control-click on a Macintosh) and select the option to save the file to disk.