title: Somatic mutations to CSMD1 in colorectal adenocarcinomas.
abstract: 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 Multiple Domains 1 Gene (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 26 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.affiliation: Department of Pathology, Microbiology and Immunology, The University of South Carolina, School of Medicine, Columbia, South Carolina 29203, USA.
authors.forename: Christopher
authors.initials: C
authors.lastname: Farrell
authors.forename: Hampton
authors.initials: H
authors.lastname: Crimm
authors.forename: Paul
authors.initials: P
authors.lastname: Meeh
authors.forename: Randal
authors.initials: R
authors.lastname: Croshaw
authors.forename: Thomas
authors.initials: T
authors.lastname: Barbar
authors.forename: Jacob J
authors.initials: JJ
authors.lastname: Vandersteenhoven
authors.forename: William
authors.initials: W
authors.lastname: Butler
authors.forename: Phillip
authors.initials: P
authors.lastname: Buckhaults
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000556:secondary; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002478:Cells, Cultured; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D025521:Tumor Suppressor Proteins
chemical_list: C477880:CSMD1 protein, human; D008565:Membrane Proteins; D025521:Tumor Suppressor Proteins