. 2024 Sep 2;9:227. doi: 10.1038/s41392-024-01939-5

Table 2.

Individual patient data

No.	Sex, age	Cancer type	TMB	Response	PFS (months)	OS (months)	POLE/POLD1 mutation	Mutation alteration	cDNA change	Variant type	POL-EDM	Functional mutation	OncoKB curated alterations
SYSUCC01	F, 55 yr	HCC	4.6	SD	4.9	6.1	POLE	p.H1440T	c.4318 C > T	missense	N	VUS	Unknown
SYSUCC02	F, 65 yr	EC	1.1	SD	2.6	28.2	POLE	p.A252V (germline)	c.755 C > T	missense	N	VUS	Unknown
SYSUCC03	F, 58 yr	CRC	2.8	PD	1.4	53.0	POLE	p.V533M	c.1597 G > A	missense	N	VUS	Unknown
SYSUCC04	F, 24 yr	malignant peripheral nerve sheath tumor	25.1	NE	NA	17.9	POLE	p.I2070-K2072delIQK	c.6209-6217delTTCAGAAGA	DEL	N	VUS	Unknown
							POLE	p.T2273-E2275delTLE	c.6817-6825delACCCTGGAG	DEL	N	VUS	Unknown
							POLD1	p.L523-L526delLERL	c.1566-1577del12	DEL	Y	VUS	Unknown
SYSUCC05	M, 41 yr	CRC	2.6	SD	2.7	38.7	POLE	p.T1104M	c.3311 C > T	missense	N	VUS	Unknown
SYSUCC06	M, 52 yr	CRC	5.3	PD	1.2	13.5	POLD1	p.T238M	c.713 C > T	missense	N	VUS	Unknown
SYSUCC07	F, 64 yr	Renal medullary carcinoma	2.6	PR	39.9	40.2	POLD1	p.R682Q (germline)	c.2045 G > A	missense	N	VUS	Unknown
SYSUCC08	F, 47 yr	CRC	92.8	PD	1.5	22.5	POLE	p.V411L	c.1231 G > T	missense	Y	Functional Mutation/ Hypermutation	Likely Oncogenic
SYSUCC09	F, 35 yr	CRC	130.3	PR	24.8	39.4	POLE	p.S297F	c.890 C > T	missense	Y	Functional Mutation/ Hypermutation	Likely Oncogenic
SYSUCC09	F, 35 yr	CRC	130.3	PR	24.8	39.4	POLE	p.S1906Y	c.5717 C > A	missense	N	VUS	Unknown
SYSUCC10	M, 45 yr	CRC	203.3	CR	25.0	33.4	POLE	p.P286R	c.857 C > G	missense	Y	Functional Mutation/ Hypermutation	Likely Oncogenic
SYSUCC10	M, 45 yr	CRC	203.3	CR	25.0	33.4	POLE	p.F1907L	c.5721 C > A	missense	N	VUS	Unknown
SYSUCC11	F, 72 yr	Cervical cancer	20.2	PD	1.3	17.5	POLD1	p.S1034F	c.3101 C > T	missense	N	VUS	Unknown
SYSUCC12	F, 50 yr	CRC	5.3	SD	2.6	14.4	POLE	p.Q520P	c.1559 A > C	missense	N	VUS	Unknown
SYSUCC13	F, 48 yr	CRC	16.3	PD	1.4	5.0	POLE	p.E575K	c.1723 G > A	missense	N	VUS	Unknown
SYSUCC14	M, 56 yr	CRC	6.6	PD	0.4	0.4	POLD1	p.R978C	c.2933 C > T	missense	N	VUS	Unknown
SYSUCC15	M, 39 yr	CRC	6.7	SD	2.5	8.7	POLE	p.I1739V	c.5215 A > G	missense	N	VUS	Unknown

cDNA complementary DNA, CR complete response, CRC colorectal cancer, EC endometrial cancer, F female, HCC hepatocellular carcinoma, M male, N no, OS overall survival, PFS progression-free survival, POL-EDM POLE/POLD1 exonuclease domain mutation, PR partial response, SD stable disease, TMB-H high tumor mutational burden, TMB-L low tumor mutational burden, VUS variant of unknown significance, Y yes