Table 1.

Clinical Features and Genetic Features of RAPTAS Patients With Multiple Tumors

Proband No.	Age (in Years) at Diagnosis of First Tumor (Second Tumor)	Phenotype	Metastatic Disease	Germline Genetic Analysis	Histology Reviewed
1	63 (63)	Unilateral renal oncocytoma	No	No detectable mutation in SDHA,SDHB/SDHC/SDHD,SDHAF2, MAX, TMEM127, FH, VHL	No
		Unilateral PC
2	76 (76)	Unilateral RCC	No	No detectable mutation in SDHA, SDHB/SDHC/SDHD,SDHAF2, MAX, TMEM127, FH, VHL	Yes
		Unilateral PC
3	56 (56)	Unilateral RCC	No	No detectable mutation in SDHA, SDHB/SDHC/SDHD,SDHAF2, MAX, TMEM127, FH, VHL	Yes
		Unilateral PC
		Breast carcinoma
4	62 (64)	Unilateral PC	Yes (RCC)	No detectable mutation in SDHA, SDHB/SDHC/SDHD,SDHAF2, MAX, TMEM127, FH, VHL	No
		Multifocal RCC
5	68 (68)	Unilateral PC	No	No detectable mutation in SDHB or VHL	No
		Unilateral RCC
6	41 (41)	Carotid body PGL	No	Variant of uncertain significance	No
		Unilateral RCC		SDHD (c.34G>A p.Gly12Ser)
				Tested for SDHB/C/D and VHL
7	60 (60)	Unilateral RCC	No	No detectable mutation in SDHB or VHL	No
		Unilateral PC
8	10 (26)	Abdominal PGL	No	SDHB mutation	No
		Unilateral RCC		c.141G>A (p.TRP47*)
				Tested for VHL and SDHB
9	62 (63)	Unilateral PC	No	SDHB mutation	No
		Unilateral RCC		c.268C>T (p.Arg90*)
				Tested for SDHB, VHL
10	43 (43)	Unilateral RCC	No	MAX mutation	No
		Unilateral PC		c.97C>T (p. Arg33*) Tested for SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, and FH
11	53 (62)	Unilateral PCC	No	TMEM127 mutation	Yes
		Unilateral RCC		c.117_120delGTCT (tested for SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, and FH)
12	34 (39)	Carotid body HNPGL	Yes	SDHB mutation	Yes
		Unilateral RCC	(RCC)	c.79C>T (P.Arg27*).
				Tested for SDHB, SDHC, SDHD, and VHL