Direct comparison of the next-generation sequencing and iTERT PCR methods for the diagnosis of TERT hotspot mutations in advanced solid cancers

Kang, So Young; Kim, Deok Geun; Kim, Hyunjin; Cho, Yoon Ah; Ha, Sang Yun; Kwon, Ghee Young; Jang, Kee-Taek; Kim, Kyoung-Mee

doi:10.1186/s12920-022-01175-2

Table 1 The result of NGS and Sanger sequencing for TERT promoter region

From: Direct comparison of the next-generation sequencing and iTERT PCR methods for the diagnosis of TERT hotspot mutations in advanced solid cancers

No	Tumor	DNA concentration (ng/μl)	NGS data						Sanger sequencing
No	Tumor	DNA concentration (ng/μl)	TMB	MSI	NGS	TERT VAF (%)	TERT TD	TERT TV (%)	Sanger sequencing
1	Liver	20	TMB-low	MSS	C228T	45.6	456	80	C228T
2	Liver	14	TMB-low	MSS	C228T	25.9	201	80	C228T
3	Liver	9	TMB-low	MSS	C228T	25.6	78	70	C228T
4	Liver	31	TMB-high	MSS	C228T	15.4	259	20	C228T
5	Liver	22	TMB-low	MSS	C228T	36.0	114	90	C228T
6	Liver	27	TMB-low	MSS	C228T	41.7	211	80	C228T
7	Liver	9	TMB-low	MSS	C228T	7.7	78	60	C228T
8	Liver	33	TMB-high	MSS	C228T	44.7	94	40	C228T
9	Liver	6.4	TMB-low	MSS	C228T	26.8	112	60	C228T
10	Liver	16	TMB-low	MSS	C228T	34.1	552	60	C228T
11	Liver	11	TMB-low	MSS	C228T	24.7	178	70	C228T
12	Liver	47	TMB-low	MSS	C228T	28.8	66	20	C228T
13	Liver	26	TMB-low	MSS	C250T	27.9	1223	70	C250T
14	Liver	22	TMB-low	MSS	C228T	38.1	578	60	C228T
15	Liver	47	TMB-low	MSS	C250T	12.0	875	60	C250T
16	Liver	35	TMB-low	MSS	C228T	56.2	441	80	C228T
17	Liver	153	TMB-low	MSS	C228T	28.6	398	70	C228T
18	Liver	83	TMB-low	MSS	C228T	24.4	586	80	C228T
19	Liver	135	TMB-high	MSS	C250T	38.2	728	80	C250T
20	Liver	121	TMB-low	MSS	C228T	34.7	254	60	C228T
21	Liver	140	TMB-low	MSS	C228T	20.9	134	70	C228T
22	Liver	139	TMB-low	MSS	C228T	49.4	237	60	C228T
23	Melanoma	50	TMB-high	MSS	C250T	11.4	500	60	C250T
24	Melanoma	98	TMB-low	MSS	C250T	28.8	351	80	C250T
25	Melanoma	52	TMB-high	MSS	C228T	23.8	395	40	C228T
26	Melanoma	76	TMB-low	MSS	C228T	54.6	227	70	C228T
27	Melanoma	76	TMB-low	MSS	C228T	26.9	93	70	C228T
28	Melanoma	190	TMB-low	MSS	C250T	41.5	585	40	C250T
29	Melanoma	138	TMB-high	MSS	C250T	57.5	315	30	C250T
30	Melanoma	49	TMB-low	MSS	C228T	53.4	251	80	C228T
31	Melanoma	195	TMB-high	MSS	C250T	21.7	359	80	C250T
32	Melanoma	137	TMB-low	MSS	C228T	20.8	226	50	C228T
33	Melanoma	138	TMB-low	MSS	C250T	29.3	399	40	C250T
34	Melanoma	136	TMB-low	MSS	C250T	47.5	385	40	C250T
35	Pancreatobiliary	188	TMB-low	MSS	C228T	34.6	81	60	C228T
36	Pancreatobiliary	456	TMB-high	MSS	C228T	20.5	234	50	C228T
37	Pancreatobiliary	50	TMB-low	MSS	C228T	12.1	239	50	C228T
38	Pancreatobiliary	61	TMB-low	MSS	C228T	10.8	249	25	C228T
39	Pancreatobiliary	159	TMB-low	MSS	C228T	11.7	137	10	C228T
40	Pancreatobiliary	15	TMB-low	MSS	C228T	33.1	130	90	C228T
41	Pancreatobiliary	17	TMB-high	MSS	C228T	31.7	145	70	C228T
42	Pancreatobiliary	19	TMB-low	MSS	C250T	16.9	705	40	C250T
43	Pancreatobiliary	57	TMB-low	MSS	C228T	36.6	544	50	C228T
44	Pancreatobiliary	11	TMB-low	MSS	C228T	45.9	270	60	C228T
45	Pancreatobiliary	22	TMB-high	MSS	C250T	18.0	666	60	C250T
46	Pancreatobiliary	45	TMB-low	MSS	C228T	21.7	337	30	C228T
47	Pancreatobiliary	41	TMB-low	MSS	C228T	29.3	246	30	C228T
48	Pancreatobiliary	18	TMB-low	MSS	C250T	12.8	639	60	C250T
49	Pancreatobiliary	23	TMB-high	MSS	C228T	25.1	470	40	C228T
50	Pancreatobiliary	36	TMB-high	MSS	C228T	24.9	503	70	C228T
51	Pancreatobiliary	36	TMB-low	MSS	C228T	19.1	236	40	C228T
52	Pancreatobiliary	11	TMB-low	MSS	C228T	33.1	366	30	C228T
53	Pancreatobiliary	47	TMB-high	MSS	C228T	39.2	199	80	C228T
54	Urinary	20	TMB-low	MSS	C228T	32.6	331	70	C228T
55	Urinary	81	TMB-low	MSS	C228T	22.7	238	70	C228T
56	Urinary	74	TMB-low	MSS	C250T	16.5	388	60	C250T
57	Urinary	172	TMB-high	MSS	C250T	19.7	117	70	C250T
58	Urinary	28	TMB-high	MSS	C228T	32.8	125	80	C228T
59	Urinary	30	TMB-high	MSS	C228T	19.5	41	30	C228T
60	Urinary	32	TMB-high	MSS	C228T	30.9	628	80	C228T
61	Urinary	70	TMB-low	MSS	C228T	21.7	60	60	C228T
62	Urinary	24	TMB-high	MSS	C250T	8.7	69	10	C250T
63	Urinary	35	TMB-low	MSS	C250T	22.3	197	70	C250T
64	Urinary	58	TMB-high	MSS	C228T	37.9	103	60	C228T
65	Urinary	54	TMB-low	MSS	C228T	14.2	106	60	C228T
66	Urinary	31	TMB-high	MSS	C250T	24.7	515	70	C250T
67	Urinary	47	TMB-high	MSS	C228T	28.1	740	70	C228T
68	Urinary	38	TMB-high	MSS	C228T	46.9	260	40	C228T
69	Urinary	43	TMB-low	MSS	C250T	49.2	1140	90	C250T
70	Urinary	25	TMB-low	MSS	C250T	47.6	993	70	C250T
71	Urinary	49	TMB-low	MSS	C228T	34.3	134	40	C228T
72	Urinary	22.4	TMB-low	MSS	C228T	53.8	409	35	C228T
73	Urinary	32	TMB-low	MSS	C228T	10.8	510	50	C228T
74	Urinary	27	TMB-low	MSS	C228T	25.3	301	20	C228T
75	Urinary	63	TMB-low	MSS	C228T	18.4	87	90	C228T
76	Urinary	42	TMB-low	MSS	C228T	47.6	410	70	C228T
77	Urinary	38	TMB-high	MSS	C228T	24.6	272	20	C228T
78	Urinary	63	TMB-low	MSS	C228T	21.1	95	70	C228T
79	Urinary	51	TMB-high	MSS	C228T	37.1	329	40	C228T
80	Urinary	169	TMB-low	MSS	C228T	30.1	332	80	C228T
81	Urinary	30	TMB-low	MSS	C228T	27.9	219	70	C228T
82	Urinary	15	TMB-low	MSS	C228T	18.1	205	40	C228T
83	Urinary	27	TMB-low	MSS	C228T	32.1	545	40	C228T
84	Urinary	39	TMB-low	MSS	C228T	18.1	276	70	C228T
85	Brain	51	TMB-low	MSS	C228T	51.6	31	70	C228T
86	Colon	64	TMB-high	MSS	C228T	28.3	152	40	C228T
87	Colon	76	TMB-low	MSS	C228T	29.4	286	50	C228T
88	Colon	87	TMB-low	MSS	C228T	31.8	63	90	C228T
89	Colon	61	TMB-high	MSS	C228T	34.3	429	60	C228T
90	Colon	18	TMB-low	MSS	C228A	38.8	268	40	C228A
91	Colon	30	TMB-low	MSS	C228T	38.9	779	30	C228T
92	Colon	42	TMB-low	MSS	C228A	53.2	139	60	C228A
93	Head and neck	54	TMB-low	MSS	C228T	25.3	95	20	C228T
94	Head and neck	66	TMB-low	MSS	C228T	31.6	493	70	C228T
95	Head and neck	77	TMB-low	MSS	C250T	85.1	215	50	C250T
96	Lung	90	TMB-low	MSS	C228T	20.2	134	60	C228T
97	Lung	37	TMB-high	MSS	C228T	26.2	84	40	C228T
98	Sarcoma	26	TMB-low	MSS	C228T	50.0	118	90	C228T
99	Sarcoma	14	TMB-low	MSS	C228T	56.6	53	80	C228T
100	Sarcoma	37	TMB-low	MSS	C250T	67.5	437	50	C250T
101	Sarcoma	45	TMB-low	MSS	C228T	70.9	117	25	C228T
102	Skin	136	TMB-low	MSS	C228T	37.8	394	20	C228T
103	Thyroid	163	TMB-low	MSS	C228T	45.6	204	80	C228T

NGS next-generation sequencing, TERT telomerase reverse transcriptase, VAF variant allele frequency, TD total read depth, TV tumor volume

Back to article page

ISSN: 1755-8794

Contact us

Submission enquiries: bmcmedicalgenomics@biomedcentral.com
General enquiries: ORSupport@springernature.com

BMC Medical Genomics

Contact us