6 research outputs found
Functional investigation of tumor suppressor MIPOL1 in suppression of NPC tumorigenesis
Conference Theme: Global Lessons on Cancer Pathogenesis from Insights into a Geographically Restricted Tumor of the Nasopharyn
Breast cancer application protocol : a randomised controlled trial to evaluate a self-management app for breast cancer survivors
202009 bcrcVersion of RecordPublishe
Cross-cultural adaptation and validation of the Hong Kong version of the Knee injury and Osteoarthritis Outcome Score (HK-KOOS) for patients with knee osteoarthritis
202001 bcmaVersion of RecordPublishe
Whole-exome sequencing identifies multiple loss-of-function mutations of NF-κB pathway regulators in nasopharyngeal carcinoma
Nasopharyngeal carcinoma (NPC) is an epithelial malignancy with a unique geographical distribution. The genomic abnormalities leading to NPC pathogenesis remain unclear. In total, 135 NPC tumors were examined to characterize the mutational landscape using whole-exome sequencing and targeted resequencing. An APOBEC cytidine deaminase mutagenesis signature was revealed in the somatic mutations. Noticeably, multiple loss-of-function mutations were identified in several NF-κB signaling negative regulators NFKBIA, CYLD, and TNFAIP3. Functional studies confirmed that inhibition of NFKBIA had a significant impact on NF-κB activity and NPC cell growth. The identified loss-of-function mutations in NFKBIA leading to protein truncation contributed to the altered NF-κB activity, which is critical for NPC tumorigenesis. In addition, somatic mutations were found in several cancer-relevant pathways, including cell cycle-phase transition, cell death, EBV infection, and viral carcinogenesis. These data provide an enhanced road map for understanding the molecular basis underlying NPC