248 Chapter 11 Table 3. Overview of genetic analysis and outcomes. Reference Level of Testing Name Genes, Molecules or Panel Investigated Type of Analysis Performed Gene or Molecule Name and Mutation or Expression Status (n) No. of Patients with PM (N) and Outcomes (n) No. of Patients without PM (N) and Outcomes (n) MMR Status (MSI/MSS) Findings as Reported by Authors in Studies Astrosini et al. 20 RNA REG1A RT-PCR N = 9 N = 54 N/A REG1A expression levels highly correlated with formation of PM (median relative amount of 10.36 vs. 0.94, p = 0.0039 a). REG1A expression - - Atreya et al. 43 DNA BRAF - N = 45 N = 75 Total: 10/68 PM: 2/23 No significant differences in metastatic sites were observed, although PM were more common in BRAF mutant patients (p = 0.045 †b). BRAF mutant (40) 20 20 BRAF wild-type (80) 25 55 Bruzzi et al. 21 DNA BRAF, RAS (KRAS and NRAS) RT-PCR N = 38 N = 1446 Only MSS included. There is a trend for a higher rate of PM in BRAFV600E mutant compared to RAS mutant and wild-type patients (12.2% vs. 7.44% vs. 9.96% respectively, p > 0.05 c,d ). BRAF V600E mutant (127) 15 112 RAS mutant (748) 56 692 Double wild-type (609) 61 548 Cheng et al. 22 DNA BRAF PCR or SNP genotyping assay N = 76 N = 260 N/A Stage IV CRC patients with a BRAFV600E mutation had a higher frequency of PM (41.7% vs. 21.2%, p = 0.04 d). BRAF V600E mutant (312) 66 246 BRAF wild-type (24) 10 14
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