PMID: 37004022

Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.

BMC cancer

Xie, Jianjiang J, Yao, Weishen W, Chen, Lingxiu L, Zhu, Wenjun W, Liu, Qiang Q, Geng, Geng G, Fang, Jing J, Zhao, Yang Y, Xiao, Li L, Huang, Zhenhua Z, Zhao, Jing J

2023-03-31

143 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
5-149782702-C-T	CD74	c.799G>A	p.G267R	Missense	7/9	-
11-108151841-T-A	ATM	c.3522T>A	p.F1174L	Missense	24/63	-
11-108151841-T-G	ATM	c.3522T>G	p.F1174L	Missense	24/63	-
4-74302028-G-A	AFP	c.49G>A	p.E17K	Missense	1/15	-
5-149782766-CC-GT	CD74	c.734_735delGGinsAC	p.G245D	Missense	7/9	-
11-108151839-T-C	ATM	c.3520T>C	p.F1174L	Missense	24/63	-
5-149782702-C-G	CD74	c.799G>C	p.G267R	Missense	7/9	-
2-42509988-AGA-TGT	EML4	c.817_819delAGAinsTGT	p.R273C	Missense	8/23	-
2-42509988-AG-CT	EML4	c.817_818delAGinsCT	p.R273L	Missense	8/23	-
19-30308422-G-A	CCNE1	c.436G>A	p.A146T	Missense	6/12	-
13-32912078-T-A	BRCA2	c.3586T>A	p.L1196M	Missense	11/27	-
12-58145463-C-A	CDK4	c.38G>T	p.G13V	Missense	2/8	-
2-42509988-AGA-CAT	EML4	c.817_819delAGAinsCAT	p.R273H	Missense	8/23	-
2-42509990-A-C	EML4	c.819A>C	p.R273S	Missense	8/23	-
2-42509990-A-T	EML4	c.819A>T	p.R273S	Missense	8/23	-
2-42488394-AGA-CAT	EML4	c.472_474delAGAinsCAT	p.R158H	Missense	4/23	-
2-42513514-A-G	EML4	c.1117A>G	p.K373E	Missense	10/23	-
2-42552608-G-C	EML4	c.2156G>C	p.G719A	Missense	20/23	-
2-42552607-GGA-TGT	EML4	c.2155_2157delGGAinsTGT	p.G719C	Missense	20/23	-
10-32324483-G-A	KIF5B	c.929C>T	p.S310F	Missense	10/26	-
10-32317457-C-T	KIF5B	c.1624G>A	p.E542K	Missense	15/26	-
10-32326517-C-G	KIF5B	c.517G>C	p.V173L	Missense	7/26	-
10-32326517-C-A	KIF5B	c.517G>T	p.V173L	Missense	7/26	-
10-32324900-C-T	KIF5B	c.734G>A	p.G245D	Missense	9/26	-
10-32324483-G-T	KIF5B	c.929C>A	p.S310Y	Missense	10/26	-
10-32308852-A-G	KIF5B	c.2240T>C	p.L747P	Missense	20/26	-
2-42511775-CTT-TAA	EML4	c.943_945delCTTinsTAA	p.L315*	Nonsense	9/23	-
18-61324536-C-A	SERPINB3	c.580G>T	p.D194Y	Missense	6/8	-
4-74310816-GTG-TTT	AFP	c.820_822delGTGinsTTT	p.V274F	Missense	7/15	-
2-42552607-GGA-AGC	EML4	c.2155_2157delGGAinsAGC	p.G719S	Missense	20/23	-
6-159205756-CAC-AAA	EZR	c.469_471delGTGinsTTT	p.V157F	Missense	6/14	-
2-42509967-G-C	EML4	c.796G>C	p.G266R	Missense	8/23	-
10-32326515-TAC-CAT	KIF5B	c.517_519delGTAinsATG	p.V173M	Missense	7/26	-
5-149782766-CCC-ACA	CD74	c.733_735delGGGinsTGT	p.G245C	Missense	7/9	-
5-149792212-C-A	CD74	c.101G>T	p.G34V	Missense	1/9	-
10-32329383-C-CT	KIF5B	c.216_217insA	p.V73Sfs*3	SpliceAcceptorInsertion	3/26	-
10-32329383-C-CA	KIF5B	c.216dupT	p.V73Cfs*3	SpliceAcceptorInsertion	3/26	-
10-32329383-C-CG	KIF5B	c.216_217insC	p.V73Rfs*3	SpliceAcceptorInsertion	3/26	-
10-32326516-AC-TA	KIF5B	c.517_518delGTinsTA	p.V173*	Nonsense	7/26	-
6-159192418-G-A	EZR	c.817C>T	p.R273C	Missense	9/14	-
6-159205692-G-T	EZR	c.535C>A	p.H179N	Missense	6/14	-
6-159192417-C-T	EZR	c.818G>A	p.R273H	Missense	9/14	-
18-61323178-T-A	SERPINB3	c.886A>T	p.K296*	Nonsense	8/8	-
10-32324908-TCC-CCA	KIF5B	c.724_726delGGAinsTGG	p.G242W	Missense	9/26	-
10-32329382-A-AC	KIF5B	c.217dupG	p.V73Gfs*3	Frameshift	3/26	-
12-133244989-T-C	POLE	c.2126A>G	p.E709G	Missense	19/49	-
2-29449891-ACT-TCA	ALK	c.2962_2964delAGTinsTGA	p.S988*	Nonsense	18/29	-
7-55259524-T-A	EGFR	c.2582T>A	p.L861Q	Missense	21/28	-
12-133244990-C-T	POLE	c.2125G>A	p.E709K	Missense	19/49	-
7-55259515-T-G	EGFR	c.2573T>G	p.L858R	Missense	21/28	-
7-55249005-G-T	EGFR	c.2303G>T	p.S768I	Missense	20/28	-
7-55241707-G-A	EGFR	c.2155G>A	p.G719S	Missense	18/28	-
12-25380275-T-A	KRAS	c.183A>T	p.Q61H	Missense	3/5	-
17-7577120-C-T	TP53	c.818G>A	p.R273H	Missense	8/11	-
17-7577534-C-G	TP53	c.747G>C	p.R249S	Missense	7/11	-
17-7577534-C-A	TP53	c.747G>T	p.R249S	Missense	7/11	-
12-25380275-T-G	KRAS	c.183A>C	p.Q61H	Missense	3/5	-
12-25398284-C-A	KRAS	c.35G>T	p.G12V	Missense	2/5	-
12-25398282-C-A	KRAS	c.37G>T	p.G13C	Missense	2/5	-
12-25398281-C-T	KRAS	c.38G>A	p.G13D	Missense	2/5	-
12-25398285-C-T	KRAS	c.34G>A	p.G12S	Missense	2/5	-
17-7578406-C-T	TP53	c.524G>A	p.R175H	Missense	5/11	-
7-55231427-G-A	EGFR	c.1633G>A	p.E545K	Missense	14/28	-
12-25398284-C-G	KRAS	c.35G>C	p.G12A	Missense	2/5	-
17-7577121-G-A	TP53	c.817C>T	p.R273C	Missense	8/11	-
17-7578212-G-A	TP53	c.637C>T	p.R213*	Nonsense	6/11	-
17-7577538-C-T	TP53	c.743G>A	p.R248Q	Missense	7/11	-
17-7578403-C-A	TP53	c.527G>T	p.C176F	Missense	5/11	-
17-7578190-T-C	TP53	c.659A>G	p.Y220C	Missense	6/11	-
7-55241678-A-G	EGFR	c.2126A>G	p.E709G	Missense	18/28	-
17-7577094-G-A	TP53	c.844C>T	p.R282W	Missense	8/11	-
7-55241707-G-T	EGFR	c.2155G>T	p.G719C	Missense	18/28	-
7-55241677-G-A	EGFR	c.2125G>A	p.E709K	Missense	18/28	-
7-55241708-G-C	EGFR	c.2156G>C	p.G719A	Missense	18/28	-
18-61328074-T-A	SERPINB3	c.182A>T	p.Q61L	Missense	3/8	-
2-29443695-G-C	ALK	c.3522C>G	p.F1174L	Missense	23/29	-
7-55242466-GGAATTAAGAGAAGCA-G	EGFR	c.2236_2250del15	p.E746_A750del	InFrameDeletion	19/28	-
3-41266185-A-T	CTNNB1	c.182A>T	p.Q61L	Missense	3/15	-
17-41201198-C-T	BRCA1	c.5346G>A	p.W1782*	Nonsense	21/23	-
13-32930609-C-T	BRCA2	c.7480C>T	p.R2494*	Nonsense	15/27	-
2-29443697-A-G	ALK	c.3520T>C	p.F1174L	Missense	23/29	-
2-29443695-G-T	ALK	c.3522C>A	p.F1174L	Missense	23/29	-
3-178916648-G-C	PIK3CA	c.35G>C	p.G12A	Missense	2/21	-
3-178916648-G-A	PIK3CA	c.35G>A	p.G12D	Missense	2/21	-
3-178916647-G-A	PIK3CA	c.34G>A	p.G12S	Missense	2/21	-
7-140481402-C-G	BRAF	c.1406G>C	p.G469A	Missense	11/18	-
7-55242467-AATTAAGAGAAGCAAC-A	EGFR	c.2240_2254del15	p.L747_T751del	InFrameDeletion	19/28	-
17-7579864-C-T	TP53	c.49G>A	p.E17K	Missense	2/11	-
7-55242467-GAATTAAGAGAAGCAA-G	EGFR	c.2237_2251del15	p.E746_T751delinsA	MultiAAMissense	19/28	-
12-25398284-CC-AA	KRAS	c.34_35delGGinsTT	p.G12F	Missense	2/5	-
12-25398281-C-A	KRAS	c.38G>T	p.G13V	Missense	2/5	-
7-55242470-TTAAGAGAAGCAACATCTC-T	EGFR	c.2240_2257del18	p.L747_P753delinsS	MultiAAMissense	19/28	-
7-55241679-AAAC-A	EGFR	c.2127_2129delAAC	p.E709_T710delinsD	MultiAAMissense	18/28	-
17-7574003-G-A	TP53	c.1024C>T	p.R342*	Nonsense	10/11	-
2-29443613-C-T	ALK	c.3604G>A	p.G1202R	Missense	23/29	-
17-7578263-G-A	TP53	c.586C>T	p.R196*	Nonsense	6/11	-
12-25380276-T-A	KRAS	c.182A>T	p.Q61L	Missense	3/5	-
17-7578275-G-A	TP53	c.574C>T	p.Q192*	Nonsense	6/11	-
12-25378562-C-T	KRAS	c.436G>A	p.A146T	Missense	4/5	-
17-7579577-G-A	TP53	c.110C>T	p.S37F	Missense	4/11	-
2-29443631-G-T	ALK	c.3586C>A	p.L1196M	Missense	23/29	-
17-7579589-G-C	TP53	c.98C>G	p.S33C	Missense	4/11	-
2-29443613-C-G	ALK	c.3604G>C	p.G1202R	Missense	23/29	-
17-7577114-C-A	TP53	c.824G>T	p.C275F	Missense	8/11	-
18-61323223-C-G	SERPINB3	c.841G>C	p.D281H	Missense	8/8	-
17-7578413-C-A	TP53	c.517G>T	p.V173L	Missense	5/11	-
17-7577574-T-C	TP53	c.707A>G	p.Y236C	Missense	7/11	-
18-61328073-T-A	SERPINB3	c.183A>T	p.Q61H	Missense	3/8	-
7-55242465-GGAATTAAGA-G	EGFR	c.2239_2247delTTAAGAGAA	p.L747_E749del	InFrameDeletion	19/28	-
18-61328073-T-G	SERPINB3	c.183A>C	p.Q61H	Missense	3/8	-
18-61328074-T-C	SERPINB3	c.182A>G	p.Q61R	Missense	3/8	-
17-7577535-C-G	TP53	c.746G>C	p.R249T	Missense	7/11	-
17-7578394-T-A	TP53	c.536A>T	p.H179L	Missense	5/11	-
17-7578532-A-T	TP53	c.398T>A	p.M133K	Missense	5/11	-
2-42528524-G-A	EML4	c.1633G>A	p.E545K	Missense	14/23	-
17-7577058-C-A	TP53	c.880G>T	p.E294*	Nonsense	8/11	-
17-37868208-C-T	ERBB2	c.929C>T	p.S310F	Missense	8/27	-
7-55242469-ATTAAGAGAAGCAACATCT-A	EGFR	c.2239_2256del18	p.L747_S752del	InFrameDeletion	19/28	-
17-7577115-A-C	TP53	c.823T>G	p.C275G	Missense	8/11	-
17-7577568-C-A	TP53	c.713G>T	p.C238F	Missense	7/11	-
7-55242484-ATCTCCGAAAGCCAACAAGGAAATC-A	EGFR	c.2254_2277del24	p.S752_I759del	InFrameDeletion	19/28	-
17-7576855-G-A	TP53	c.991C>T	p.Q331*	Nonsense	9/11	-
17-37884133-G-A	ERBB2	c.3604G>A	p.G1202R	Missense	27/27	-
17-37884133-G-C	ERBB2	c.3604G>C	p.G1202R	Missense	27/27	-
17-41201199-C-T	BRCA1	c.5345G>A	p.W1782*	Nonsense	21/23	-
17-41219627-G-T	BRCA1	c.5072C>A	p.T1691K	Missense	16/23	-
12-58145464-C-A	CDK4	c.37G>T	p.G13C	Missense	2/8	-
3-41266186-A-C	CTNNB1	c.183A>C	p.Q61H	Missense	3/15	-
3-41266186-A-T	CTNNB1	c.183A>T	p.Q61H	Missense	3/15	-
17-7578446-T-A	TP53	c.484A>T	p.I162F	Missense	5/11	-
2-42556053-CA-TG	EML4	c.2369_2370delCAinsTG	p.T790M	Missense	22/23	-
17-7579578-A-G	TP53	c.109T>C	p.S37P	Missense	4/11	-
2-29455220-A-T	ALK	c.2582T>A	p.L861Q	Missense	15/29	-
18-61323221-A-C	SERPINB3	c.843T>G	p.D281E	Missense	8/8	-
18-61323221-A-T	SERPINB3	c.843T>A	p.D281E	Missense	8/8	-
3-178916647-GG-TT	PIK3CA	c.34_35delGGinsTT	p.G12F	Missense	2/21	-
12-58145463-C-T	CDK4	c.38G>A	p.G13D	Missense	2/8	-
17-41244585-G-T	BRCA1	c.2963C>A	p.S988*	Nonsense	10/23	-
10-32344844-CGTT-C	KIF5B	c.55_57delAAC	p.N19del	InFrameDeletion	1/26	-
17-7578262-C-A	TP53	c.587G>T	p.R196L	Missense	6/11	-
17-7578413-C-G	TP53	c.517G>C	p.V173L	Missense	5/11	-
17-41244585-G-C	BRCA1	c.2963C>G	p.S988*	Nonsense	10/23	-
10-32324901-C-A	KIF5B	c.733G>T	p.G245C	Missense	9/26	-