Abstract
AbstractObjectiveThis study was designed to determine ifCEACAMmutations are associated with inherited risk of colorectal cancer. Recently, protein-truncating mutations in theCEACAMgene family were associated with inherited breast cancer risk. That discovery, along with aberrant expression ofCEACAMgenes in colorectal cancer tumors and that colorectal cancer and breast cancer share many risk factors, including genetics, inspired our team to search for inheritedCEACAMmutations in colorectal cancer cases. Specifically utilizing The Cancer Genome Atlas (TCGA) blood-derived whole-exome sequencing data from the colorectal cancer cohort, rare protein-truncating variants and missense variants were investigated through single variant and aggregation analyses in European American and African American cases and compared to ethnic-matched controls.ResultsA total of 34 and 14 differentCEACAMvariants were identified in European American and African American colorectal cancer cases, respectively. Nine missense variants were individually associated with risk, two in African Americans and seven in European Americans. No identified protein-truncating variants were associated with CRC risk in either ethnicity. Gene family and gene-specific aggregation analyses did not yield any significant results.
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
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