OR2T35 – Ovarian Carcinoma

Recent exome sequencing burden analyses in ovarian carcinoma have identified OR2T35 (HGNC:31257) as one of a handful of candidate susceptibility genes for non-mucinous epithelial ovarian cancer (MONDO:0005140). In two independent studies enrolling a total of 2,573 non-mucinous cases and 13,923 controls (PMID:38633804, PMID:39939714), OR2T35 achieved a statistically significant association with a false discovery rate below 0.1. Although the burden test revealed an enrichment of loss‑of‑function variants in affected individuals, no individual variant meeting the strict HGVS criteria was explicitly reported, and no additional family‐based segregation data are available. Moreover, functional studies directly evaluating the role of OR2T35 in ovarian carcinogenesis remain absent. As a result, the current genetic evidence is based solely on case–control statistics. The collective findings point to a preliminary association that, while promising for risk stratification, requires further replication and functional validation to fully inform diagnostic decision‑making and commercial applications.

References

• medRxiv : the preprint server for health sciences • 2024 • Exome sequencing identifies HELB as a novel susceptibility gene for non‑mucinous, non‑high‑grade‑serous epithelial ovarian cancer PMID:38633804
• European journal of human genetics : EJHG • 2025 • Exome sequencing identifies HELB as a novel susceptibility gene for non‑mucinous, non‑high‑grade‑serous epithelial ovarian cancer PMID:39939714

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