Genomic alterations associated with early-stage disease and early recurrence in patients with colorectal cancer
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View abstract on PubMed
Summary
This summary is machine-generated.Early-stage colorectal cancer (CRC) exhibits distinct genomic profiles, including higher microsatellite instability and tumor mutational burden compared to stage 4 disease. Comprehensive genomic profiling in early-stage CRC can improve access to targeted therapies.
Area Of Science
- Oncology
- Genomics
- Cancer Research
Background
- Molecular characterization of early-stage (1-3) colorectal cancer (CRC) is less understood than metastatic disease.
- Comprehensive genomic profiling (CGP) is standard for metastatic CRC but not routinely performed for early stages.
Purpose Of The Study
- To compare the genomic profiles of early-stage (1-3) versus stage 4 CRC.
- To analyze the genomics of early-stage CRC patients who recurred within one year.
- To assess the impact of CGP timing on targeted therapy access.
Main Methods
- Analysis of a de-identified CRC clinico-genomic database.
- Inclusion of patients tested with Foundation Medicine assays between March 2014 and June 2023.
- Comparison of genomic alterations (GA) by Fisher's exact test.
Main Results
- Early-stage CRC (stages 1-3) showed higher prevalence of microsatellite instability-high (MSI-H) and high tumor mutational burden (TMB ≥ 10 Mut/Mb) compared to stage 4.
- Patients with early-stage CRC had distinct GA patterns, including RNF43, MSH6, MLH1, and MSH2.
- Patients recurring within 1 year had higher MSI-H, TMB, BRAF V600E, RNF43, MSH6, and BRCA1/2 alterations.
- CGP before first-line therapy increased targeted therapy use (43%) versus after (19%).
Conclusions
- Early-stage CRC patients possess unique genomic profiles.
- CGP in early-stage CRC can broaden access to targeted treatment options.
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