Thyroid cancer

[PMID 26718127] Published 2016: "An integrated analysis of cancer genes in thyroid cancer." Researchers identified mutations in "cancer driver genes" BRAF, NRAS, HRAS, EIF1AX, KRAS and 47 new genes, as well as additional pathways and fusion genes. (Abstract)

[PMID 25918370 ] Published 2015: "Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer." "The [A] allele of SNP rs965513 in 9q22 has been consistently shown to be highly associated with increased papillary thyroid cancer (PTC) risk with an odds ratio of ∼1.8 as determined by genome-wide association studies, yet the molecular mechanisms remain poorly understood." ... "Our results suggest that multiple variants coinherited with the lead SNP and located in long-range enhancers are involved in the transcriptional regulation of FOXE1 and PTCSC2 expression. These results explain the mechanism by which the risk allele of rs965513 predisposes to thyroid cancer." (Abstract)

[PMID 24591304 ] Published 2014: "Significant SNPs have limited prediction ability for thyroid cancer." "Recently, five thyroid cancer significantly associated genetic variants (rs965513, rs944289, rs116909374, rs966423, and rs2439302) have been discovered and validated in two independent GWAS and numerous case-control studies, which were conducted in different populations." The study focused on the Han Chinese population. "Small familial relative risks (1.02-1.05) and limited power to predict thyroid cancer (AUCs: 0.54-0.60) indicate limited clinical potential. Four significant SNPs have limited prediction ability for thyroid cancer." (Abstract)

[PMID 23784086] Published 2013: "Key genes and pathways in thyroid cancer based on gene set enrichment analysis." Researchers "identified 5 downregulated and 4 upregulated mixed pathways in 6 tissue datasets. Based on the meta-analysis, there were 17 common pathways in the tissue datasets. One pathway, the p53 signaling pathway, which includes 13 genes, was identified by both the gene set enrichment analysis and meta-analysis." (Abstract.)

Possible causal variant: rs1867277

23andMe blog each A at rs965513 increased the odds of thyroid cancer by 1.75 times. Each T at rs944289 increased the odds of thyroid cancer by 1.37 times.

10.1038/ng.1046 Discovery of common variants associated with low TSH levels and thyroid cancer risk

rs965513
rs966423 (OR = 1.34; Pcombined = 1.3 × 10?9)
rs2439302 (OR = 1.36; Pcombined = 2.0 × 10?9)
rs116909374 (OR = 2.09; Pcombined = 4.6 × 10?11)
rs2439302