PMID: 37165194

Pan-cancer whole-genome comparison of primary and metastatic solid tumours.

Nature
Martínez-Jiménez, Francisco F, Movasati, Ali A, Brunner, Sascha Remy SR, Nguyen, Luan L, Priestley, Peter P, Cuppen, Edwin E, Van Hoeck, Arne A
2023-05-10

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-55249071-C-T EGFR c.2369C>T p.T790M Missense 20/28 -
7-140453136-A-T BRAF c.1799T>A p.V600E Missense 15/18 -
7-55259524-T-A EGFR c.2582T>A p.L861Q Missense 21/28 -
7-55259515-T-G EGFR c.2573T>G p.L858R Missense 21/28 -
7-55242478-G-C EGFR c.2248G>C p.A750P Missense 19/28 -
7-55241708-G-C EGFR c.2156G>C p.G719A Missense 18/28 -
7-55241707-G-A EGFR c.2155G>A p.G719S Missense 18/28 -
17-37880220-T-C ERBB2 c.2264T>C p.L755S Missense 19/27 -
2-209113113-G-A IDH1 c.394C>T p.R132C Missense 4/10 -
17-37881000-G-C ERBB2 c.2329G>C p.V777L Missense 20/27 -
7-55249091-T-A EGFR c.2389T>A p.C797S Missense 20/28 -
7-55249092-G-C EGFR c.2390G>C p.C797S Missense 20/28 -
17-37881000-G-T ERBB2 c.2329G>T p.V777L Missense 20/27 -
6-152419926-A-G ESR1 c.1613A>G p.D538G Missense 8/8 -