Evaluation of lncRNA PVT1 rs13255292 variant and serum E-cadherin levels in breast cancer

BACKGROUND: Breast cancer (BC) is the most frequent malignancy, and a prime cause of lethality related to cancer worldwide. Genetic research, particularly on lncRNA, shows prospects for BC management. PVT1 can activate many tumorigenic pathways. This contributes to angiogenesis and pathological progression. This study examined the association between the PVT1 rs13255292 variants and serum E-cadherin levels with BC risk, hormone receptor status, and tumor grade. METHODOLOGY: Genotyping was performed on 120 blood samples (20 controls, 100 BCE patients, 100 stratified by histological grade: G1 = 3, G2 = 74, G3 = 23) using TaqMan assays. Also, Patients were classified as luminal A (n = 79) or non-luminal A (luminal B, HER2-enriched, TNBC) (n = 21). Serum E-cadherin was evaluated by an ELISA kit. RESULTS: Findings revealed a statistically significant association between the PVT1 rs13255292 non-risk CC genotype and luminal A subtype patients, suggesting a potential protective effect. E-cadherin levels were significantly declined in BC patients compared to controls. Based on the histological grades, a notable reduction was detected in advanced G3 compared to G2. While serum E-cadherin showed promise as a non-invasive diagnostic biomarker. Also, the genotype-specific analysis indicated a trend toward higher E-cadherin expression in CC carriers' group, though without statistical significance. CONCLUSION: The current finding underscores that the CC genotype is associated with less aggressive luminal A tumors. It also reveals an inverse link between tumor grade and E-cadherin serum levels. These findings suggest that combining genetic screening of PVT1 variants with E-cadherin surveillance could enhance prognostic stratification in BC management. Further validation in larger cohorts is required to confirm clinical utility.