Table 1.

Somatic mutations of thyroid hormone receptor genes in human cancers

Type of cancer	Gene	Mutation Sites	Impaired activity		Dominant negative activity	Reference
			T3 binding	DNA binding
Hepatocellular carcinoma	THRB	234G insertion	ND	ND	ND	22
		D211N	No	No
		R153L	No	No
		R194G	ND	ND
		M27I, C102R, T363N	Yes	Yes
		K258E	No	No
		S38L, C441R	ND	ND
		M308I	Yes	No
		H400Y, F434N	Yes	No
		K108N, T324P	Yes	No
		S38P, I54T, P273S, P273L, E306G	Yes	No
		K23E, I187V	Yes	Yes
	THRA	A225G, T227N	ND	ND
		A225G, D246N, G350K	Yes	No
		S40T, K136R, L251P, V390A	Yes	No
		K74E, A264V	Yes	Yes
		K74R, M150T, E159K	Yes	No
		N179I	ND	ND
		S38Q, Q108K, F112L, I299V	Yes	Yes
		C110Y, C254A	Yes	Yes
		G24E, M256V, E343A, P269L	Yes	No
Renal cell carcinoma	THRB	S99R, W129L, F451I	Yes	No	Yes	23, 24
		Y321H	Yes	No	No
		F451S	Yes	No	No
		Q252R, A387P, F417L	Yes	No	No
		K155E, K411E	No	Yes	No
		Δ1–26, S380F	Yes	No	No
		E299K, H412R, L456S	Yes	No	No
	THRA	S183N, H184Q, R228H, K288E	Yes	Yes	No
		I116N, M388I	Yes	Yes	No
		I116N, A225T, M388I	Yes	Yes	No
Breast cancer	THRB	deletion (123–242)	ND	ND	ND	25
		deletion (319–366)
		truncated at 167
		deletion (166–402)
		deletion (181–382)
Pituitary tumor	THRB	R438H	Yes	No	ND	26, 27
		H450Y	Yes	No	Yes
Thyroid cancer	THRB	V109A, I431T	Yes		Yes	28
		R185K, T273A, L456S	Yes		Yes
		M32V	No		No
		E34G, P141L	Yes		Yes
		A318D, F451I	Yes		Yes
		N76D, S81L, I135V, Q136H, R201X	Yes		Yes
		F403L. C446R	Yes		Yes
		K91R, K289M	Yes		Yes
	THRB	Q235X, M379T, D427G	Yes		Yes
		K411E	Yes		Yes
		Q205L	Yes		Yes
		K103R	Yes		Yes
		M32T, L373P	Yes		Yes
		K411E, H435R	Yes		No
		S99R	Yes		Yes
	THRA	T80I, L109P	Yes		Yes
		E213D	Yes		Yes
		S305P, K337R	Yes		Yes
		G57E	Yes		Yes
		K29T, C97X	Yes		No
		Y352C	Yes		Yes
		S183N, H184Q, Q187X, R228H, E245V, K288E	Yes		Yes
		S183N, H184Q, R228H, M369V	Yes		Yes
		S183N, H184Q, R228H	Yes		Yes
		S271I	Yes		Yes

ND. Not determined.