PMID: 37039257

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Cancer medicine
Montes-Rodríguez, Ingrid M IM, Centeno-Girona, Hilmaris H, Rivera-Lynch, Camila C, Rivera, Noridza N, Cruz-Correa, Marcia M
2023-04-11

69 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-55231428-A-G EGFR c.1634A>G p.E545G Missense 14/28 -
1-115258743-AC-CT NRAS c.38_39delGTinsAG p.G13E Missense 2/7 -
7-55211079-CAGA-C EGFR c.322_324delAGA p.R108del InFrameDeletion 3/28 -
1-27089471-C-A ARID1A c.2427C>A p.Y809* Nonsense 8/20 -
1-27089471-C-G ARID1A c.2427C>G p.Y809* Nonsense 8/20 -
12-56486841-G-C ERBB3 c.1255G>C p.G419R Missense 11/28 -
12-56486595-G-T ERBB3 c.1174G>T p.E392* Nonsense 10/28 -
12-56482413-G-T ERBB3 c.961G>T p.E321* Nonsense 8/28 -
12-56486841-G-A ERBB3 c.1255G>A p.G419R Missense 11/28 -
2-212989614-C-A ERBB4 c.97G>T p.E33* Nonsense 2/28 -
1-27100319-CC-AA ARID1A c.4031_4032delCCinsAA p.S1344* Nonsense 17/20 -
17-37872174-CG-TA ERBB2 c.1495_1496delCGinsTA p.R499* Nonsense 12/27 -
7-140453136-A-T BRAF c.1799T>A p.V600E Missense 15/18 -
7-55259515-T-G EGFR c.2573T>G p.L858R Missense 21/28 -
1-115258747-C-A NRAS c.35G>T p.G12V Missense 2/7 -
1-115258744-C-T NRAS c.38G>A p.G13D Missense 2/7 -
1-115258747-C-T NRAS c.35G>A p.G12D Missense 2/7 -
1-115256528-T-A NRAS c.183A>T p.Q61H Missense 3/7 -
1-115256528-T-G NRAS c.183A>C p.Q61H Missense 3/7 -
1-115256530-G-T NRAS c.181C>A p.Q61K Missense 3/7 -
1-115256529-T-A NRAS c.182A>T p.Q61L Missense 3/7 -
1-115256529-T-C NRAS c.182A>G p.Q61R Missense 3/7 -
12-25380275-T-A KRAS c.183A>T p.Q61H Missense 3/5 -
12-25380275-T-G KRAS c.183A>C p.Q61H Missense 3/5 -
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 -
12-25398285-C-A KRAS c.34G>T p.G12C Missense 2/5 -
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 -
12-25398284-C-A KRAS c.35G>T p.G12V Missense 2/5 -
12-25398281-C-T KRAS c.38G>A p.G13D Missense 2/5 -
17-7577094-G-A TP53 c.844C>T p.R282W Missense 8/11 -
17-7577548-C-T TP53 c.733G>A p.G245S Missense 7/11 -
5-112175216-G-T APC c.3925G>T p.E1309* Nonsense 16/16 -
5-112175639-C-T APC c.4348C>T p.R1450* Nonsense 16/16 -
17-7574003-G-A TP53 c.1024C>T p.R342* Nonsense 10/11 -
7-140453152-A-G BRAF c.1783T>C p.F595L Missense 15/18 -
7-140453150-A-T BRAF c.1785T>A p.F595L Missense 15/18 -
7-140453150-A-C BRAF c.1785T>G p.F595L Missense 15/18 -
1-115258748-C-T NRAS c.34G>A p.G12S Missense 2/7 -
1-115258745-C-A NRAS c.37G>T p.G13C Missense 2/7 -
17-37883237-A-G ERBB2 c.3140A>G p.H1047R Missense 25/27 -
17-7577106-G-A TP53 c.832C>T p.P278S Missense 8/11 -
7-140453154-T-C BRAF c.1781A>G p.D594G Missense 15/18 -
17-37881000-G-C ERBB2 c.2329G>C p.V777L Missense 20/27 -
17-37881000-G-T ERBB2 c.2329G>T p.V777L Missense 20/27 -
1-115258747-C-G NRAS c.35G>C p.G12A Missense 2/7 -
1-115258748-C-A NRAS c.34G>T p.G12C Missense 2/7 -
1-115252204-C-T NRAS c.436G>A p.A146T Missense 4/7 -
17-37872664-G-A ERBB2 c.1624G>A p.E542K Missense 13/27 -
1-27088756-C-T ARID1A c.2365C>T p.Q789* Nonsense 7/20 -
12-56478854-G-C ERBB3 c.310G>C p.V104L Missense 3/28 -
1-45798970-CCT-ATG MUTYH c.289_291delAGGinsCAT p.R97H Missense 4/16 -
18-48591918-C-A SMAD4 c.1081C>A p.R361S Missense 9/12 -
X-63412095-G-A AMER1 c.1072C>T p.R358* Nonsense 2/2 -
1-115252204-C-G NRAS c.436G>C p.A146P Missense 4/7 -
1-27100375-C-T ARID1A c.4087C>T p.Q1363* Nonsense 17/20 -
12-56478854-G-T ERBB3 c.310G>T p.V104L Missense 3/28 -
12-56481660-C-T ERBB3 c.695C>T p.A232V Missense 6/28 -
1-115258747-CC-AT NRAS c.34_35delGGinsAT p.G12I Missense 2/7 -
1-27057928-C-A ARID1A c.1636C>A p.Q546K Missense 3/20 -
X-9702077-G-A GPR143 c.1120+5448C>T - IntronicSNV - 8/8
3-85011039-A-G CADM2 c.61+2220A>G - IntronicSNV - 1/9
X-63411246-G-A AMER1 c.1921C>T p.R641* Nonsense 2/2 -
17-37872045-C-T ERBB2 c.1366C>T p.R456C Missense 12/27 -
7-55269445-T-G EGFR c.3132T>G p.N1044K Missense 26/28 -
7-55269445-T-A EGFR c.3132T>A p.N1044K Missense 26/28 -
12-56480324-C-A ERBB3 c.431C>A p.S144* Nonsense 4/28 -
12-56480324-C-G ERBB3 c.431C>G p.S144* Nonsense 4/28 -