ID

45790

Beschreibung

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.

Link

dbGaP-study=phs001084

Stichworte

  1. 22.06.23 22.06.23 - Chiara Middel
Rechteinhaber

Timothy Yeatman, Gibbs Cancer Center and Research Institute, Spartanburg, SC, USA

Hochgeladen am

22. Juni 2023

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs001084 Differential Mutations in Matched Primary and Metastatic Colorectal Cancers

Eligibility Criteria

Inclusion and exclusion criteria
Beschreibung

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Inclusion criteria: patients with both a primary and metastatic colorectal cancer specimen subjected to targeted gene sequencing.
Beschreibung

Elig.phs001084.v1.p1.1

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706086
UMLS CUI [1,3]
C0009402
UMLS CUI [1,4]
C0677930
UMLS CUI [1,5]
C0027627
UMLS CUI [1,6]
C0370003
UMLS CUI [1,7]
C1521840
UMLS CUI [1,8]
C0017337
UMLS CUI [1,9]
C1561491

Ähnliche Modelle

Eligibility Criteria

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001084.v1.p1.1
Item
Inclusion criteria: patients with both a primary and metastatic colorectal cancer specimen subjected to targeted gene sequencing.
boolean
C1512693 (UMLS CUI [1,1])
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])

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