Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.
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Dai W, Zheng H, Cheung AK, Tang CS, Ko JM, Wong BW, Leong MM, Sham PC, Cheung F, Kwong DL, Ngan RK, Ng WT, Yau CC, Pan J, Peng X, Tung S, Zhang Z, Ji M, Chiang AK, Lee AW, Lee VH, Lam KO, Au KH, Cheng HC, Yiu HH, Lung ML
Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.
Proc Natl Acad Sci U S A. 2016 Mar 22;113(12):3317-22. doi: 10.1073/pnas.1523436113. Epub 2016 Mar 7.
- PubMed ID
- 26951679 [ View in PubMed]
- Abstract
Multiple factors, including host genetics, environmental factors, and Epstein-Barr virus (EBV) infection, contribute to nasopharyngeal carcinoma (NPC) development. To identify genetic susceptibility genes for NPC, a whole-exome sequencing (WES) study was performed in 161 NPC cases and 895 controls of Southern Chinese descent. The gene-based burden test discovered an association between macrophage-stimulating 1 receptor (MST1R) and NPC. We identified 13 independent cases carrying the MST1R pathogenic heterozygous germ-line variants, and 53.8% of these cases were diagnosed with NPC aged at or even younger than 20 y, indicating that MST1R germline variants are relevant to disease early-age onset (EAO) (age of