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Recent methylation profiling studies in breast tumors have identified OTUD4 as one of several candidate tumor suppressor genes exhibiting aberrant promoter hypermethylation. In a study of 65 breast cancer patients (PMID:22701537), differential methylation of OTUD4 was observed when comparing tumor tissues to matched non‐cancerous samples. The study noted that such epigenetic alterations correlated with clinicopathological features across diverse patient groups, suggesting a potential, albeit unconfirmed, role for OTUD4 dysregulation in breast tumorigenesis.
However, the current evidence is limited by the absence of reported causative genetic variants, segregation analyses, or functional assays in breast tissue. This constrains mechanistic insight into how altered OTUD4 methylation might contribute to breast cancer development. Key take‑home sentence: Aberrant methylation of OTUD4 may serve as a promising candidate biomarker for breast cancer, thereby supporting its further evaluation in diagnostic and translational research.
Gene–Disease AssociationLimitedMethylation studies in a cohort of 65 breast cancer patients demonstrated aberrant OTUD4 promoter hypermethylation (PMID:22701537), but no causative genetic variants or segregation data have been reported. Genetic EvidenceLimitedEvidence derives solely from DNA methylation profiling with no reported coding variants or family-based segregation, limiting direct genetic support. Functional EvidenceLimitedNo direct functional assays in a breast tissue context have been published to elucidate the mechanistic role of OTUD4 in breast cancer. |