ID
45773
Beschrijving
Principal Investigator: Timothy Yeatman, MD, Gibbs Cancer Center and Research Institute, SC, USA MeSH: Colorectal Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001111 Colorectal cancer (CRC) is a highly heterogeneous disease, for which prognosis has been relegated to clinic-pathologic staging for decades. There is a need to molecularly stratify subpopulations of CRC to better predict outcome and assign therapies. Here we report targeted exome sequencing of 1,321 cancer-related genes on 468 tumor specimens, which identified a subset of 17 genes that best classify CRC, with APC (Gene ID: 324) playing a central role in predicting overall survival. APC may assume 0, 1, or 2 truncating mutations, each with a striking differential impact on survival. Tumors lacking any APC mutation carry a worse prognosis than single APC mutation tumors, but tumors with two APC mutations and KRAS (Gene ID: 3845) and TP53 (Gene ID: 7157) mutations confer the poorest survival among all the subgroups examined. Our study demonstrates a substantial prognostic role for APC and suggests that sequencing of APC may have clinical utility in the routine staging and potential therapeutic assignment for CRC.
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Versies (1)
- 19-06-23 19-06-23 - Chiara Middel
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Timothy Yeatman, MD, Gibbs Cancer Center and Research Institute, SC, USA
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19 juni 2023
DOI
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Creative Commons BY 4.0
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dbGaP phs001111 A Prognostic Role of APC in Colorectal Cancers
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject ID and consent information.
- The subject sample mapping data table contains a mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table includes subject ID, age at diagnosis, number of APC mutation in APC zones 1-4, APC biallelic loss, patients grouped by 4 gene mutations or classed by different types of APC and other gene mutations, CMS (consensus molecular subtypes) group used the SSP (single sample predictor) method, primary tumor location in colon, primary tumor located site in colon, MSI (microsatellite instability) high status, tumor metastatic, colon cancer standard diagnostic stage, patients vital status and overall survival time, EMT signature scores, RAS downstream signature scores, expression mean of 64 beta-catenin targeted genes, and APC mRNA expression.
- This sample attributes table includes sample ID, body site where sample was collected, analyte type, histological type and tumor status of the sample.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject ID and consent information.
- The subject sample mapping data table contains a mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table includes subject ID, age at diagnosis, number of APC mutation in APC zones 1-4, APC biallelic loss, patients grouped by 4 gene mutations or classed by different types of APC and other gene mutations, CMS (consensus molecular subtypes) group used the SSP (single sample predictor) method, primary tumor location in colon, primary tumor located site in colon, MSI (microsatellite instability) high status, tumor metastatic, colon cancer standard diagnostic stage, patients vital status and overall survival time, EMT signature scores, RAS downstream signature scores, expression mean of 64 beta-catenin targeted genes, and APC mRNA expression.
- This sample attributes table includes sample ID, body site where sample was collected, analyte type, histological type and tumor status of the sample.
C0680251 (UMLS CUI [1,2])
C0009402 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,3])
C1521840 (UMLS CUI [1,4])
C1561491 (UMLS CUI [1,5])