Next-Generation Sequencing in Colorectal Cancer: Real-World Molecular Profiling and Clinical Correlations

Afonso Cunha, Carolina Robalo, Carolina Lemos, Nuno Jorge Lamas, Marisa Domingues dos Santos · 2026

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Description

Cunha and colleagues report real-world gene testing results for colorectal cancer in this 2026 single-center study. Next-generation sequencing, which reads many genes at once, guides modern cancer care, but how it performs in everyday practice is less clear. The team reviewed 97 patients chosen for routine targeted testing on two sequencing platforms and linked the results to their clinical records.

Ninety-one patients, about 94 percent, carried at least one reportable gene change, with 198 changes found in total. The most often altered genes were TP53 in about 56 percent of patients, KRAS in about 40 percent, PIK3CA, and BRAF. About 19 percent of tumors showed microsatellite instability, a sign of faulty DNA repair. Links between mutations and clinical features were weak, and none survived statistical correction for multiple testing.

Catalog record

CREATORAfonso Cunha, Carolina Robalo, Carolina Lemos, Nuno Jorge Lamas, Marisa Domingues dos Santos
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE50 KB
LICENSEhttps://creativecommons.org/licenses/by/4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/article/MED/PMC13466781

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