A germline variant of ring finger protein 43 in an early onset, treatment-resistant metastatic gastric cancer: a case report.

ABSTRACT:

Background

Ring finger protein 43 (RNF43) is an E3 ubiquitin-protein ligase that functions as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis, and subsequent degradation of Frizzled receptors within the Wnt receptor complex. It exerts its effects on both canonical and non-canonical Wnt signaling pathways.

Case description

This case report describes a 49-year-old female patient with a significant family history of cancer and parental consanguinity who was diagnosed with treatment-resistant stage IV gastric adenocarcinoma. Genomic profiling conducted via liquid biopsy identified a missense variant in RNF43 exon 9 (NM_017763.6, c.1948C>T; Arg650Ter) with a high variant allele frequency (VAF) of 49.5%. Confirmation of the R650* vari

SUBMITTER: Garcia-Bloj B 

PROVIDER: S-EPMC12432919 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature