Wei Dai (The University of Hong Kong, Hong Kong SAR China)
“Genetic Susceptibility in Nasopharyngeal Carcinoma”
- multiple genetic effects in the NPC susceptibility genes
- allele frequency can
- WES-seq if NPC identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma
- [Gene Level replicaiton study in NPC]
- NPC cases (n=1131, FamilyHIstory FH+=258)
- MST1R deleterious covariant s of MST1R in NPC
- Two transcript variants were identified, shorter one is associated with more aggressiveness
- Three cohorts
- Lin Nat Genetics
- HKU WES Zheng et al PNAS 2
- CUHK WES data Li Nat Commun 2017
- HKU targeted seq data (Zheng et am PNAS 2016)
- Dai wt al Maria Lung PNAS 2016
- Hypermethylation of MST1R promoter can be relevant to NPC FH+
- Reduced promoter activity by hypermethylation, can push for the shorter transcription variant —> which is associated with NPC aggressiveness
- pR306H variant has a more aggressive diseases
2016 GRC NPC
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Wei Dai (The University of Hong Kong, Hong Kong SAR China) “Methylation Biomarkers in NPC”
- Aberrant methylation markers in NPC
- 450 K illumination hardshi (Chin Clin Oncol. 2016 Apr (Dai et al., Chin Clin Oncol, 2016)
- MS-HRM Int J Cancer 2014, Yang et al, a qualitative assays, needs to use positive purpose for quantification
- Illumina make this assumption when designing their array probes, ie that all CpGs in the 50bp probe sequence are co-methylated. (Eckhardt et al., Nat Genet, 2006)
- Regional analysis showed that 6p21.3 is more frequently hypermethylated.
- HLA- L TRIM31 IER3 FLIT
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