The benefit-cost ratio (BCR) analysis demonstrated the greater cost-effectiveness of genetic testing compared to endoscopic surveillance to all relatives at risk. Although our cohort is clinically enriched and does not reflect the population prevalence of LS in Southern Thailand, these findings highlight the substantial LS burden within high-risk families and underscore the importance of incorporating genetic screening, counseling, and tailored surveillance strategies into clinical practice.
Germline pathogenic variants in the HR pathway genes drive oncogenesis in a large subset of PAMPCAs. These findings highlight the importance of germline genetic testing for patients with PAMPCA for informing therapy and assessing familial risk.
1 month ago
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)
Concurrent normal CA19-9 and DUPAN-2 levels independently predicted favorable outcomes. Combined preoperative biomarker assessment may contribute to prognostic stratification of BTCs, including among patients with Lewis antigen negativity or impaired FUT3 function.
2 months ago
Journal
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FUT3 (Fucosyltransferase 3) • CA 19-9 (Cancer antigen 19-9)
EMSA further demonstrated that hydroxymethylated CpG sites within the VCAN promoter specifically recruited MeCP2, which interacted with CREB to activate VCAN transcription. These findings reveal a dual role of MeCP2: its loss contributes to epithelial heterogeneity, whereas its retained function in CAFs promotes stromal remodeling through VCAN activation.
A novel genetically engineered mouse model that mimics gastric-type and intestinal-type adenomas and gastric-type SIAC/EDA is reported. Spatial transcriptomics provided a detailed understanding of cellular differentiation lineages, cancer microenvironment related to SIAC subtypes and driving pathways that may be leveraged to identify new molecular tools for pathologic diagnosis and potential targets for precision cancer therapies.
No adjuvant therapy was administered due to the absence of residual disease and actionable mutations. This case highlights the broad tumor spectrum in NF1 and underscores the importance of comprehensive imaging, multidisciplinary management, and genetic testing for optimal outcomes.
P=N/A, N=15, Recruiting, University of California, Irvine | Trial completion date: Jun 2025 --> Jun 2026 | Trial primary completion date: Jun 2025 --> Jun 2026
3 months ago
Trial completion date • Trial primary completion date • Circulating tumor DNA