Our website uses cookies to improve your on-site experience. By using the website, cookies are being used as described in our Policy Document
Warning: To log in you will need to enable cookies and reload the page (Policy Document)
My ePortfolio Register   
 

Abstract | Full HTML Article | PDF ecancer 14 1001 / https://doi.org/10.3332/ecancer.2020.1001

Clinical Study

Computational analyses on genetic alterations in the NSD genes family and the implications for colorectal cancer development

Colorectal cancer (CRC) is a prevalent tumour throughout the world. CRC symptoms appear only in advanced stages causing decrease in survival of patients. Therefore, it is necessary to establish new strategies to detect CRC through subclinical screening. Genetic alterations and differential expression of genes that codify histone methyltransferases (HMTs) are linked to tumourigenesis of CRC. One important group of genes that codify HMTs are the NSD family composed of NSD1, NSD2 and NSD3 genes. This family participates in several cancer processes as oncogenes, harbouring several genetic alterations and presenting differential expression in tumour cells. To investigate the implications of NSD genes in CRC cancer, we described the genomic landscape of all NSD family members in a cohort of CRC patients from publicly available cancer datasets. We identified associations among recurrent copy number alterations (CNAs), mutations and differential gene expression concerning clinical outcome. We found in CRC repositories that NSD1 harbours a missense mutation in SET domain—the catalytic region—that probably could decrease its activity. In addition, we found an association between the low expressions of NSD1 and NSD2 and decrease of survival probability in CRC patients. Finally, we reported that NSD3 showed the highest rate of gene amplification, which was highly correlated to its mRNA expression, a common feature of many cancer drivers. Our results highlight the potential use of the NSD1 and NSD2 gene as prognostic markers of poor prognosis in CRC patients. Additionally, we appointed the use of the NSD3 gene as a putative cancer driver gene in CRC given that this gene harbours the highest rate of genetic amplification. All our findings are leading to novel strategies to predict and control CRC, however, some studies need to be conducted to validate these findings.

Keywords: NSD genes family, NSD1, NSD2, NSD3, colorectal cancer, copy number alterations (CNA), histone methyltransferases

Loading Article Metrics ... Please wait

Related articles

Case Report: The development of T-cell malignancies in patients with pre-existing myeloproliferative neoplasms: a report of three cases

Abstract | Full Article | PDF Published: 17 Feb 2020 / https://doi.org/10.3332/ecancer.2020.1011

Case Report: Slowly developing toxic epidermal necrolysis-like reaction associated with pemetrexed and carboplatin

Abstract | Full Article | PDF Published: 13 Feb 2020 / https://doi.org/10.3332/ecancer.2020.1010

Case Report: Multiple malignant transformations of an ovarian mature cystic teratoma

Abstract | Full Article | PDF Published: 04 Feb 2020 / https://doi.org/10.3332/ecancer.2020.1009

Review: Inherited lung cancer: a review

Abstract | Full Article | PDF Published: 27 Jan 2020 / https://doi.org/10.3332/ecancer.2020.1008

Research: Health-related quality of life before and during chemotherapy in patients with early-stage breast cancer

Abstract | Full Article | PDF Published: 27 Jan 2020 / https://doi.org/10.3332/ecancer.2020.1007



Founding partners

European Cancer Organisation European Institute of Oncology

Founding Charities

Foundazione Umberto Veronesi Fondazione IEO Swiss Bridge

Published by

ecancer Global Foundation