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

Journal of Clinical Pathology
Umberto MalapelleGiancarlo Troncone

Abstract

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. 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. 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%). 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.

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Citations

Dec 22, 2016·International Journal of Molecular Sciences·Quitterie FontangesNicky D'Haene
Feb 22, 2017·Journal of Pathology and Translational Medicine·Hye Seung LeeUNKNOWN Molecular Pathology Study Group of Korean Society of Pathologists
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Dec 5, 2021·Reproductive Biology and Endocrinology : RB&E·Fang YangYuancai Xiang

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Integrative Genomics Viewer
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