基于生物信息学分析NSD家族在乳腺癌预后、免疫评分和信号通路中的调控作用OA

Objective To investigate the expression patterns,functional roles,and prognostic value of nuclear receptor-binding SET domain(NSD)family members(NSD1,NSD2,NSD3)in breast cancer.Methods The expression levels and prognostic significance of the NSD family in breast cancer were analyzed using the Sangerbox,GEPIA 2.0,HPA,and Kap-lan-Meier Plotter databases.Genetic alterations and survival outcomes were assessed via cBioPortal,and correlations with immune scores were evaluated using TIMER3,and protein-protein interaction networks and associations with cancer-related signaling pathways were examined using the STRING database and TCGA dataset.Results The mRNA and protein expres-sions of NSD1,NSD2,and NSD3 were significantly upregulated in breast cancer,there was correlated expression among fam-ily members.High NSD1 expression was associated with shortened distant metastasis-free survival(DMFS).High NSD2 ex-pression was significantly associated with shortened relapse-free survival(RFS),overall survival(OS),and DMFS in breast cancer patients.High NSD3 expression was slightly associated with longer RFS,but with shorter OS,DMFS and worse prog-nosis.Genetic alteration rates in NSD genes ranged from 1.3%to 12.4%,and alterations were associated with shorter OS.NSD expression showed significant correlations with multiple immune score indicators,including positive correlations with IF-NG,CD274,and exclusion score,and negative correlations with immune score and ESTIMATE score.The NSD family regu-lated various signaling pathways including DNA repair,G2M checkpoint,inflammatory response,and P53 pathway,among which it was negatively correlated with reactive oxygen species-upregulated gene pathway and P53 pathway.Conclusion NSD family is highly expressed in breast cancer and exhibits genetic variations.It influences patient prognosis by regulating tumor signaling pathways and the immune microenvironment,and is expected to become a potential biomarker and therapeutic target for breast cancer.