The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies

Table 1 Features and 691 polymorphic status of patients harboring the RET-S891A germline mutation

	Patient	Gender	Age at Dx (years)	RET 691	691 variant	Diagnosis	TNM	Stage
Family 1	6 TL	M	15	G/G	wt	Normal	-	-
	7 RA	M	18	G/G	wt	Normal	-	-
	1 BS	M	5	G/S	polymorphic	Normal	-	-
	2 RF	M	7	G/S	polymorphic	Normal	-	-
	4 RM	M	9	G/S	polymorphic	Normal	-	-
	10 RE	F	27	G/S	polymorphic	Normal	-	-
	3 TM	M	8	G/G	wt	CCH	-	-
	8 MM	M	24	G/G	wt	CCH	-	-
	21 RP	M	56	G/G	wt	CCH	-	-
	5 BM	M	10	G/S	polymorphic	CCH	-	-
	9 RL	M	24	G/S	polymorphic	CCH	-	-
	11 RI	F	27	G/S	polymorphic	CCH	-	-
	16 FE	F	42	G/G	wt	MTC	pT1N0M0	I
	17 BA	F	43	G/G	wt	MTC	pT1N0M0	I
	18 FA	M	43	G/G	wt	MTC	pT1N0M0	I
	19 BC	F	46	G/G	wt	MTC	pT3N1bM0	IVA
	20 MC	F	54	G/G	wt	MTC	pT2N1aM0	III
	22 RU	M	62	G/G	wt	MTC	pT1NXM0	I
	25 TG	F	76	G/G	wt	MTC	pT1N1aM0	III
	12 RS	F	29	G/S	polymorphic	MTC	pT1NXM0	I
	23 RL	F	71	G/S	polymorphic	MTC	pT2NXM0	II
	13 RF	M	30	G/S	polymorphic	MTC	pT1N1aM0	I
Family 2	14 VV	F	35	G/S	polymorphic	MTC	pT1NXM0	I
	15VN*	M	38	G/S	polymorphic	MTC	pT1NXM0	I
	24 SV*	F	74	S/S	polymorphic^†	MTC	pT2N1aM0	III

Age at Dx, age at diagnosis; G/G, Glycine/Glycine; G/S, Glycine/Serine; S/S, Serine/Serine; wt, wild type; Normal, absence of C-cells disease; CCH, C cells hyperplasia; MTC, medullary thyroid cancer;
*elevated urinary normetanephrine levels.
^†RET-G691S polymorphism in homozygosis.
The Table includes the 25 patients for whom clinical data are available.

ISSN: 1750-1172