Table 1.

Distribution of RET mutations in Brazil with exon, MTC risk classification, number of families and number and percentage of patients with MTC, demographic characteristics and the presence of pheochromocytoma (PHEO), primary hyperparathyroidism (PHPT), cutaneous lichen amyloidosis (CLA) and Hirschsprung’s disease (HSCR).

RET mutation	Exon	MTC classification risk	MTC families (n)	MTC patients (%)	Age median (min–max)	Gender (male/female)	PHEO (%)	PHPT (%)	CLA (%)	HSCR (%)
G533C	8	Moderate	1	59 (10.6)	47†,‡ (21–72)	24/35	1 (1.7)	1 (1.7)	0	0
C609G/R/S/Y/W	10	Moderate	7	12 (2.2)	43 (25–57)	5/7	1 (8.3)	0	0	0
C611G/R/Y/W	10	Moderate	6	12 (2.2)	40 (10–52)	4/8	1 (8.3)	0	0	0
C618F/R/S	10	Moderate	6	11 (2.0)	36 (10–65)	1/10	3 (27.3)	1 (9)	0	0
C620G/R/S	10	Moderate	6	56 (10.1)	21 (8–41)	22/34	7 (12.5)	2 (3.6)	0	6 (10.7)
C630R	11	Moderate	1	2 (0.4)	22 (10–34)	2/0	0	0	0	0
C634F/G/R/S/W/Y	11	High	76	262 (47.3)	28 (5–73)	115/147	95 (36.3)	46 (17.6)	42 (16.0)	0
E768D	13	Moderate	6	14 (2.5)	41†,‡ (38–68)	1/13	0	0	0	0
L790F	13	Moderate	3	4 (0.7)	36 (31–41)	3/1	0	0	0	0
V804L	14	Moderate	7	14 (2.5)	54†,‡ (35–77)	4/10	0	0	0	0
V804M	14	Moderate	15	32 (5.8)	45†,‡ (30–74)	9/23	0	1 (3.1)	0	0
S891A	15	Moderate	8	23 (4.2)	48‡ (21–65)	5/18	0	0	0	0
M918T	16	Highest	26	32 (5.8)	16 (6–33)	13/19	12 (37.5)	1 (3.1)	0	0
M918V	16	Moderate	8	21 (3.8)	52†,‡ (24–71)	5/16	0	0	0	0
Total			176	554		213/341	120 (21.7)	52 (9.4)	42 (7.6)	6 (1.1)

Age at diagnosis in each mutation was compared to C634 (†) and to M918T (‡) mutations and is marked when statistically significant.