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Evaluation of rare and common variants from suspected familial or sporadic nasopharyngeal carcinoma (NPC) susceptibility genes in sporadic NPC

Cancer Epidemiology, Biomarkers & Prevention Sep 11, 2019

Liu Z, et al. - Given the proposed association of genetic susceptibility with NPC, researchers examined 819 NPC cases and 938 controls from two case-control studies in Taiwan via targeted gene sequencing of 20 genes [16 identified from the study of multiplex families, three identified from a pooled analysis of NPC genome-wide association study (GWAS), and one identified from both studies]. They constructed a targeted, multiplex PCR primer panel using the custom Ion AmpliSeq Designer v4.2 targeting the regions of the selected genes and conducted gene-based and single-variant tests. NPC was noted to be associated with combined common and rare variants in CDKN2A/2B (P = 1.3 × 10−4), BRD2 (P = 1.6 × 10−3), TNFRSF19 (P = 4.0 × 10−3), and CLPTM1L/TERT (P = 5.4 × 10−3). The previously reported linked variants were supported by the findings. In addition, there appeared an association of some common variants in genes previously linked to familial NPC with the development of sporadic NPC.
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