Table 1.

The nine new variants of the RET proto-oncogene identified via whole-exome and whole-genome sequencing in the current study

Casuistic	Nucleotide	Codon	RET protein	dbSNP or ESP	SIFT	PolyPhen2	n	Genotype frequency
SABE60+	C1352T	451	T451M*	Not reported	D	B	1	0.0008
SATX	T1418A	473	L473Q	Not reported	D	D	3	0.0014
SATX	A1462T	488	T488S	Not reported	T	B	1	0.0004
SABE60+	C1573T	525	R525W	Not reported	D	D	1	0.0008
SABE60+	C1678T	560	P560S	Not reported	D	D	1	0.0008
SABE60+	G1799T	600	R600L	Not reported	D	B	1	0.0008
SATX	C2077T	693	R693C	Not reported	D	D	2	0.0001
SABE60+	C2225T	742	T742M	Not reported	D	D	1	0.0008
SABE60+	A2255G	752	Y752C	Not reported	T	D	1	0.0008
SATX	T2411C	804	V804A	Not reported	D	D	1	0.0005

Please see the discussion and interpretation of these findings in the main text. The T451M variant is not present in the control databases (dbSNP and ESP), but it was identified in two endometrium carcinomas (COSMIC project IDs: 1584958 and 918112). The other variants have not been reported in COSMIC. D, damaging; B, benign; T, tolerated; SABE60+, University of Sao Paulo; SATX, San Antonio, Texas.