Fig. 1: Study design. | Nature Medicine

Fig. 1: Study design.

From: RNF43 mutations predict response to anti-BRAF/EGFR combinatory therapies in BRAFV600E metastatic colorectal cancer

Fig. 1: Study design.The alternative text for this image may have been generated using AI.

A total of 166 patients with mCRCBRAF-V600E were included in the study from discovery (n = 46), validation (n = 52) and control (n = 68) cohorts. WES of germline DNA, baseline tumor DNA and/or baseline plasma cfDNA from 28 patients was performed. Targeted NGS was used to assess RNF43 tumor mutation status for the 18 remaining patients from the discovery cohort and all tumors from the validation and control cohorts. Genomic profiles and MSS/MSI-RNF43 molecular subtypes were compared with clinical response data (ORR, mPFS and mOS) using dNdScv maximum-likelihood unbiased mutation enrichment analysis25. In vitro assays were used to assess the functional impact of RNF43 mutations detected in patient samples (see more in Fig. 6).

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