FBXO24
Overview
FBXO24 encodes an F-box protein, a component of SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complexes involved in targeted protein degradation. It has been identified as a rare germline candidate variant in hereditary diffuse gastric cancer (HDGC) families lacking CDH1 mutations.
Alterations observed in the corpus
- Rare germline candidate variant identified in a Finnish HDGC exome study (Donner et al. 2015) in CDH1-negative hereditary diffuse gastric cancer families; awaits external validation in large independent cohorts. PMID:24816255
Cancer types (linked)
- STAD (gastric adenocarcinoma): rare germline candidate in familial non-hereditary gastric cancer (FNHGC) and HDGC-like families. PMID:24816255
Co-occurrence and mutual exclusivity
- Co-candidate with INSR as a germline variant in CDH1-negative HDGC; the two were identified together in the same Finnish exome cohort. PMID:24816255
Therapeutic relevance
- No direct therapeutic targeting reported.
Open questions
- FBXO24 germline variants are family-specific findings from a single exome cohort; functional validation and replication in independent HDGC/FNHGC series are lacking.
Sources
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