Table 1.

Detailed listing of gene mutations associated with sporadic thyroid carcinomas

Gene	Mutations	Activating or Inactivating	Common associations
AKT1	G49A	Activating	Poorly differentiated carcinomas.
ALK	Exon 23	Activating	Poorly differentiated and anaplastic carcinomas.
BRAF	V600E, K601E, AKAP9 gene fusion	Activating	Papillary and anaplastic carcinomas. V600E is by far most common and is over-represented in tall cell variant, uncommon in follicular variant. AKAP9-BRAF is over-represented in radiation induced papillary carcinomas.
CTNNB1	Exon 3	Activating	Poorly differentiated and anaplastic carcinomas.
IDH1	Exon 4	Abnormal activity	Identified in a minor fraction of most types of thyroid carcinoma.
NDUFA13 (GRIM19)	various	Inactivating	Hurthle cell carcinoma.
NTRK1	Gene fusions with TPM3, TPR, and TFG	Activating	Infrequently found in papillary carcinoma.
PIK3CA	Exons 9, 20	Activating	Follicular, poorly differentiated, and anaplastic carcinomas.
PPARG	Gene fusion with PAX8, rarely with CREB3L2	Context dependent	Follicular carcinomas and follicular variant of papillary carcinomas.
PTEN	Deletion or inactivating mutation	Inactivating	Follicular, poorly differrentiated and anaplastic carcinomas.
RAS	NRAS Q61, HRAS Q61, KRAS G12, G13	Activating	Follicular, follicular variant of papillary, poorly differentiated and anaplastic carcinomas. NRAS mutations are most common, KRAS are least common.
RET	Gene fusions with CCDC6 (RET/PTC1), NCOA4 (RET/PTC3), and others	Activating	Papillary carcinomas. Gene fusions result in constitutively active RET kinase domain. RET/PTC1 and RET/PTC3 are over-represented in radiation induced thyroid cancer.
TP53	Exons 5–8	Inactivating	Poorly differentiated and anaplastic carcinomas.