RT Journal Article
SR Electronic
T1 Less frequently mutated genes in colorectal cancer: evidences from next-generation sequencing of 653 routine cases
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 767
OP 771
DO 10.1136/jclinpath-2015-203403
VO 69
IS 9
A1 Malapelle, Umberto
A1 Pisapia, Pasquale
A1 Sgariglia, Roberta
A1 Vigliar, Elena
A1 Biglietto, Maria
A1 Carlomagno, Chiara
A1 Giuffrè, Giuseppe
A1 Bellevicine, Claudio
A1 Troncone, Giancarlo
YR 2016
UL http://jcp.bmj.com/content/69/9/767.abstract
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.