ID
45790
Descripción
Principal Investigator: Timothy Yeatman, Gibbs Cancer Center and Research Institute, Spartanburg, SC, USA MeSH: Colorectal Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001084 This study compares DNA mutations detected in matched primary and metastatic colorectal cancer samples from 18 individuals across 1,321 genes. We found many more mutations were shared between tumor pairs (avg. 33.3 mutations/tumor) than were discordant (avg. 2.3 mutations / tumor). Nearly all tumors showed at least one discordance, and these were observed in genes known to be involved in colorectal cancer progression. Therefore, although primary and metastatic colorectal tumors are highly genetically concordant, evidence exists for discordance, which has clinical implications especially in situations of chemotherapy resistance or insensitivity.
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Versiones (1)
- 22/6/23 22/6/23 - Chiara Middel
Titular de derechos de autor
Timothy Yeatman, Gibbs Cancer Center and Research Institute, Spartanburg, SC, USA
Subido en
22 de junio de 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs001084 Differential Mutations in Matched Primary and Metastatic Colorectal Cancers
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with primary and metastatic colorectal cancer and involved in the "Differential Mutations in Matched Primary and Metastatic Colorectal Cancers" project.
- Subject ID, sample ID, and sample use variable obtained from participants with primary and metastatic colorectal cancer and involved in the "Differential Mutations in Matched Primary and Metastatic Colorectal Cancers" project.
- Subject ID, gender, age, primary and metastatic tumor location of participants with primary and metastatic colorectal cancer and involved in the "Differential Mutations in Matched Primary and Metastatic Colorectal Cancers" project.
- Sample ID, body site where sample was obtained, analyte type, and tumor sample status of participants with primary and metastatic colorectal cancer and involved in the "Differential Mutations in Matched Primary and Metastatic Colorectal Cancers" project.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with primary and metastatic colorectal cancer and involved in the "Differential Mutations in Matched Primary and Metastatic Colorectal Cancers" project.
- Subject ID, sample ID, and sample use variable obtained from participants with primary and metastatic colorectal cancer and involved in the "Differential Mutations in Matched Primary and Metastatic Colorectal Cancers" project.
- Subject ID, gender, age, primary and metastatic tumor location of participants with primary and metastatic colorectal cancer and involved in the "Differential Mutations in Matched Primary and Metastatic Colorectal Cancers" project.
- Sample ID, body site where sample was obtained, analyte type, and tumor sample status of participants with primary and metastatic colorectal cancer and involved in the "Differential Mutations in Matched Primary and Metastatic Colorectal Cancers" project.
C0680251 (UMLS CUI [1,2])
C1706086 (UMLS CUI [1,2])
C0009402 (UMLS CUI [1,3])
C0677930 (UMLS CUI [1,4])
C0027627 (UMLS CUI [1,5])
C0370003 (UMLS CUI [1,6])
C1521840 (UMLS CUI [1,7])
C0017337 (UMLS CUI [1,8])
C1561491 (UMLS CUI [1,9])