XPO7 – Prostate Cancer

Rare germline variants in XPO7 have been implicated in Prostate cancer predisposition through a two-stage familial and aggressive disease study (PMID:32800727). In stage one, whole-exome sequencing of 491 familial or aggressive prostate cancer cases and 429 controls identified a significant burden of rare XPO7 variants in cases. Stage two custom capture in an independent cohort of 2917 cases and 1899 controls replicated this enrichment, particularly in patients with aggressive disease. No segregation data were reported for XPO7 variants in affected families.

Limited functional evidence derives from non–prostate tumor models: HOG cells expressing mutant XPO7 exhibited altered proliferation (PMID:25694352), but no prostate cancer–specific functional assays have been conducted. These data support a limited but replicated association of XPO7 with prostate cancer risk.

Key take-home: Rare XPO7 variants contribute to familial and aggressive prostate cancer predisposition and may inform future risk stratification panels.

References

• European Urology • 2021 • Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer. PMID:32800727
• Journal of Neuro-Oncology • 2015 • Tumor-specific mutations in low-frequency genes affect their functional properties. PMID:25694352

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