Less frequently mutated genes in colorectal cancer: evidences from next-generation sequencing of 653 routine cases.

Abstract:

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.

journal_name

J Clin Pathol

authors

Malapelle U,Pisapia P,Sgariglia R,Vigliar E,Biglietto M,Carlomagno C,Giuffrè G,Bellevicine C,Troncone G

doi

10.1136/jclinpath-2015-203403

subject

Has Abstract

pub_date

2016-09-01 00:00:00

pages

767-71

issue

9

eissn

0021-9746

issn

1472-4146

pii

jclinpath-2015-203403

journal_volume

69

pub_type

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