PT  - JOURNAL ARTICLE
AU  - Malapelle, Umberto
AU  - Pisapia, Pasquale
AU  - Sgariglia, Roberta
AU  - Vigliar, Elena
AU  - Biglietto, Maria
AU  - Carlomagno, Chiara
AU  - Giuffrè, Giuseppe
AU  - Bellevicine, Claudio
AU  - Troncone, Giancarlo
TI  - Less frequently mutated genes in colorectal cancer: evidences from next-generation sequencing of 653 routine cases
AID  - 10.1136/jclinpath-2015-203403
DP  - 2016 Sep 01
TA  - Journal of Clinical Pathology
PG  - 767--771
VI  - 69
IP  - 9
4099  - http://jcp.bmj.com/content/69/9/767.short
4100  - http://jcp.bmj.com/content/69/9/767.full
SO  - J Clin Pathol2016 Sep 01; 69
AB  - Aims The incidence of RAS/RAF/PI3KA and TP53 gene mutations in colorectal cancer (CRC) is well established. Less information, however, is available on other components of the CRC genomic landscape, which are potential CRC prognostic/predictive markers.Methods Following a previous validation study, ion-semiconductor next-generation sequencing (NGS) was employed to process 653 routine CRC samples by a multiplex PCR targeting 91 hotspot regions in 22 CRC significant genes.Results A total of 796 somatic mutations in 499 (76.4%) tumours were detected. Besides RAS/RAF/PI3KA and TP53, other 12 genes showed at least one mutation including FBXW7 (6%), PTEN (2.8%), SMAD4 (2.1%), EGFR (1.2%), CTNNB1 (1.1%), AKT1 (0.9%), STK11 (0.8%), ERBB2 (0.6%), ERBB4 (0.6%), ALK (0.2%), MAP2K1 (0.2%) and NOTCH1 (0.2%).Conclusions In a routine diagnostic setting, NGS had the potential to generate robust and comprehensive genetic information also including less frequently mutated genes potentially relevant for prognostic assessments or for actionable treatments.