PMID: 37099071

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular diagnosis & therapy
Fitzgerald, Sandra S, Blenkiron, Cherie C, Stephens, Rosalie R, Mathy, Jon A JA, Somers-Edgar, Tiffany T, Rolfe, Gill G, Martin, Richard R, Jackson, Christopher C, Eccles, Michael M, Robb, Tamsin T, Rodger, Euan E, Lawrence, Ben B, Guilford, Parry P, Lasham, Annette A, Print, Cristin G CG
2023-04-26

110 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-140453136-A-T BRAF c.1799T>A p.V600E Missense 15/18 -
4-55599321-A-T KIT c.2447A>T p.D816V Missense 17/21 -
7-140481403-C-T BRAF c.1405G>A p.G469R Missense 11/18 -
1-115258744-C-T NRAS c.38G>A p.G13D Missense 2/7 -
1-115256530-G-T NRAS c.181C>A p.Q61K Missense 3/7 -
1-115256508-C-G NRAS c.203G>C p.R68T Missense 3/7 -
1-115256529-T-C NRAS c.182A>G p.Q61R Missense 3/7 -
7-140453136-AC-TT BRAF c.1798_1799delGTinsAA p.V600K Missense 15/18 -
12-25398284-C-T KRAS c.35G>A p.G12D Missense 2/5 -
3-178936091-G-A PIK3CA c.1633G>A p.E545K Missense 10/21 -
17-7577121-G-A TP53 c.817C>T p.R273C Missense 8/11 -
17-7578443-A-G TP53 c.487T>C p.Y163H Missense 5/11 -
17-7578550-G-A TP53 c.380C>T p.S127F Missense 5/11 -
7-140453134-T-C BRAF c.1801A>G p.K601E Missense 15/18 -
17-7577559-G-A TP53 c.722C>T p.S241F Missense 7/11 -
4-55599332-G-T KIT c.2458G>T p.D820Y Missense 17/21 -
3-41266137-C-T CTNNB1 c.134C>T p.S45F Missense 3/15 -
10-89653814-C-T PTEN c.112C>T p.P38S Missense 2/9 -
17-7578443-A-C TP53 c.487T>G p.Y163D Missense 5/11 -
4-55593661-T-C KIT c.1727T>C p.L576P Missense 11/21 -
7-55242487-C-T EGFR c.2257C>T p.P753S Missense 19/28 -
1-243859016-C-T AKT3 c.49G>A p.E17K Missense 3/14 -
9-80409488-T-G GNAQ c.626A>C p.Q209P Missense 5/7 -
7-140481476-C-T BRAF c.1332G>A p.R444= Synonymous 11/18 -
2-209113113-G-A IDH1 c.394C>T p.R132C Missense 4/10 -
3-178952072-A-G PIK3CA c.3127A>G p.M1043V Missense 21/21 -
3-10188320-G-A VHL c.463G>A p.V155M Missense 2/3 -
17-29533315-C-T NF1 c.1318C>T p.R440* Nonsense 12/58 -
17-7579717-G-A TP53 c.79C>T p.P27S Missense 3/11 -
19-3118942-A-T GNA11 c.626A>T p.Q209L Missense 5/7 -
13-48953760-C-T RB1 c.1363C>T p.R455* Nonsense 14/27 -
10-89720852-C-T PTEN c.1003C>T p.R335* Nonsense 8/9 -
10-89717615-C-T PTEN c.640C>T p.Q214* Nonsense 7/9 -
15-66729153-T-A MAP2K1 c.361T>A p.C121S Missense 3/11 -
15-66727455-G-T MAP2K1 c.171G>T p.K57N Missense 2/11 -
17-7578395-G-A TP53 c.535C>T p.H179Y Missense 5/11 -
2-198267483-C-T SF3B1 c.1874G>A p.R625H Missense 14/25 -
9-21974679-G-A CDKN2A c.148C>T p.Q50* Nonsense 1/3 -
7-6426892-C-T RAC1 c.85C>T p.P29S Missense 2/6 -
15-66729124-T-G MAP2K1 c.332T>G p.I111S Missense 3/11 -
15-66774131-G-A MAP2K1 c.607G>A p.E203K Missense 6/11 -
17-29528489-C-T NF1 c.1246C>T p.R416* Nonsense 11/58 -
3-178921549-T-G PIK3CA c.1031T>G p.V344G Missense 5/21 -
17-7577079-C-T TP53 c.859G>A p.E287K Missense 8/11 -
7-86394514-G-A GRM3 c.53G>A p.G18E Missense 2/6 -
7-86493639-G-A GRM3 c.2608G>A p.E870K Missense 6/6 -
7-86469060-G-A GRM3 c.2230G>A p.D744N Missense 4/6 -
7-86469000-G-A GRM3 c.2170G>A p.E724K Missense 4/6 -
17-29553539-G-A NF1 c.2088G>A p.W696* Nonsense 18/58 -
17-29562641-C-T NF1 c.3721C>T p.R1241* Nonsense 28/58 -
17-29576111-C-T NF1 c.4084C>T p.R1362* Nonsense 30/58 -
2-219449406-C-T CNOT9 c.392C>T p.P131L Missense 4/8 -
12-46230641-C-T ARID2 c.890C>T p.S297F Missense 8/21 -
9-21971096-C-T CDKN2A c.262G>A p.E88K Missense 2/3 -
9-21971017-G-A CDKN2A c.341C>T p.P114L Missense 2/3 -
7-148508727-T-A EZH2 c.1937A>T p.Y646F Missense 16/20 -
17-29677227-C-T NF1 c.7348C>T p.R2450* Nonsense 50/58 -
17-29562747-G-A NF1 c.3827G>A p.R1276Q Missense 28/58 -
17-7579355-A-T TP53 c.332T>A p.L111Q Missense 4/11 -
10-89692900-G-T PTEN c.384G>T p.K128N Missense 5/9 -
9-80412493-C-T GNAQ c.548G>A p.R183Q Missense 4/7 -
2-212537918-C-T ERBB4 c.1687G>A p.E563K Missense 14/28 -
2-212295699-C-T ERBB4 c.2614G>A p.E872K Missense 21/28 -
3-142188402-G-A ATR c.6329C>T p.S2110F Missense 38/47 -
7-140434507-G-A BRAF c.2191C>T p.P731S Missense 18/18 -
17-29559101-C-T NF1 c.3208C>T p.Q1070* Nonsense 25/58 -
17-29654857-G-A NF1 c.5609G>A p.R1870Q Missense 38/58 -
7-140453185-G-A BRAF c.1750C>T p.L584F Missense 15/18 -
13-48878100-G-A RB1 c.52G>A p.A18T Missense 1/27 -
17-29665053-C-T NF1 c.6715C>T p.Q2239* Nonsense 45/58 -
17-29556163-C-T NF1 c.2530C>T p.L844F Missense 21/58 -
9-21974723-C-T CDKN2A c.104G>A p.G35E Missense 1/3 -
4-55594236-C-T KIT c.1939C>T p.L647F Missense 13/21 -
17-7578182-G-A TP53 c.667C>T p.P223S Missense 6/11 -
15-66777424-C-T MAP2K1 c.790C>T p.P264S Missense 7/11 -
5-1280424-T-A TERT c.1799A>T p.E600V Missense 4/16 -
5-1294259-G-A TERT c.742C>T p.R248W Missense 2/16 -
17-29679304-C-T NF1 c.7487C>T p.S2496F Missense 51/58 -
4-72629640-A-G GC c.487T>C p.Y163H Missense 5/13 -
7-55225403-G-A EGFR c.1255G>A p.A419T Missense 11/28 -
17-29687605-C-T NF1 c.8261C>T p.S2754F Missense 57/58 -
7-55211014-C-T EGFR c.257C>T p.A86V Missense 3/28 -
7-86394765-G-A GRM3 c.304G>A p.D102N Missense 2/6 -
5-1266593-C-T TERT c.2640G>A p.A880= Synonymous 10/16 -
3-96706525-C-T EPHA6 c.802C>T p.R268C Missense 3/18 -
7-86394822-G-A GRM3 c.361G>A p.D121N Missense 2/6 -
9-127911984-G-A PPP6C c.886C>T p.P296S Missense 7/7 -
7-86468384-G-A GRM3 c.1554G>A p.M518I Missense 4/6 -
10-89717624-G-A PTEN c.649G>A p.V217I Missense 7/9 -
4-71508428-C-T ENAM c.1285C>T p.R429C Missense 9/9 -
7-86468433-G-A GRM3 c.1603G>A p.E535K Missense 4/6 -
18-31318725-G-A ASXL3 c.1357G>A p.E453K Missense 11/12 -
12-46244034-C-T ARID2 c.2128C>T p.P710S Missense 15/21 -
12-46245843-C-T ARID2 c.3937C>T p.Q1313* Nonsense 15/21 -
1-153964547-C-T RPS27 c.233C>T p.S78F Missense 4/4 -
16-24372859-G-A CACNG3 c.623G>A p.R208Q Missense 4/4 -
16-24358111-G-A CACNG3 c.268G>A p.E90K Missense 2/4 -
7-86394597-C-T GRM3 c.136C>T p.P46S Missense 2/6 -
7-86394637-G-A GRM3 c.176G>A p.R59Q Missense 2/6 -
7-86479837-G-A GRM3 c.2543G>A p.G848E Missense 5/6 -
8-27296616-C-T PTK2B c.1712C>T p.S571F Missense 19/31 -
7-86468403-G-A GRM3 c.1573G>A p.D525N Missense 4/6 -
7-86415955-G-A GRM3 c.847G>A p.E283K Missense 3/6 -
7-140549969-A-G BRAF c.182T>C p.I61T Missense 2/18 -
4-55593601-A-G KIT c.1667A>G p.Q556R Missense 11/21 -
4-55594195-A-G KIT c.1898A>G p.E633G Missense 13/21 -
8-27289811-C-T PTK2B c.920C>T p.S307F Missense 10/31 -
10-89624278-G-A PTEN c.52G>A p.E18K Missense 1/9 -
8-27289810-TC-CT PTK2B c.919_920delTCinsCT p.S307L Missense 10/31 -
15-66727541-C-T MAP2K1 c.257C>T p.S86F Missense 2/11 -