Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China

Table 5 Five offspring of individuals with MEN2A-PHEO and their parents with MEN2A no evidence of PHEO and RET variants/SNPs

Family	RET mutation	Age of diagnosis (years)*	Phenotype	PHEO, L/R (cm)	Concomitant of RET variants/SNPs
1	C634Y	Son, 18	MTC + PHEO	−/5.5	A45A, A432A, L769L
1	C634Y	Father, 42	MTC	–	A45A, A432A
2	C634R	Son, 21	MTC + PHEO	3.5/ –	A45A, A432A, G691S, L769L
2	C634R	Father, 47	MTC	–	A432A
3	C634Y	Daughter, 26	MTC + PHEO	−/4.0	A432A
3	C634Y	Mother, 55	MTC	–	A45A, A432A
4	C634F	Daughter, 29	MTC + PHEO	2.7/ –	A45A, T278N, A432A
4	C634F	Mother, 57	MTC + CLA	–	V292M, R67H, R982C, A432A, L769L, S904S
5	C611Y	Daughter, 37	MTC + PHEO+CLA	−/4.8	A45A, A432A, L769L
5	C611Y	Father, 74	MTC	–	A45A, A432A, L769L

*The age at which the offspring was diagnosed with unilateral PHEO and the age of their father or mother of MEN2A patient at that time
MTC, medullary thyroid carcinoma; PHEO, pheochromocytoma; CLA, cutaneous lichen amyloidosis; L/R, left or right; SNPs, single nucleotide polymorphisms

ISSN: 1471-2407