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Mutational landscape of cancer-driver genes across human cancers
The genetic mutations that contribute to the transformation of healthy cells into cancerous cells have been the subject of extensive research. The molecular aberrations that lead to cancer development are often characterised by gain-of-function or loss-of-function mutations in a variety of oncogenes...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406856/ https://www.ncbi.nlm.nih.gov/pubmed/37550388 http://dx.doi.org/10.1038/s41598-023-39608-2 |
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author | Sinkala, Musalula |
author_facet | Sinkala, Musalula |
author_sort | Sinkala, Musalula |
collection | PubMed |
description | The genetic mutations that contribute to the transformation of healthy cells into cancerous cells have been the subject of extensive research. The molecular aberrations that lead to cancer development are often characterised by gain-of-function or loss-of-function mutations in a variety of oncogenes and tumour suppressor genes. In this study, we investigate the genomic sequences of 20,331 primary tumours representing 41 distinct human cancer types to identify and catalogue the driver mutations present in 727 known cancer genes. Our findings reveal significant variations in the frequency of cancer gene mutations across different cancer types and highlight the frequent involvement of tumour suppressor genes (94%), oncogenes (93%), transcription factors (72%), kinases (64%), cell surface receptors (63%), and phosphatases (22%), in cancer. Additionally, our analysis reveals that cancer gene mutations are predominantly co-occurring rather than exclusive in all types of cancer. Notably, we discover that patients with tumours displaying different combinations of gene mutation patterns tend to exhibit variable survival outcomes. These findings provide new insights into the genetic landscape of cancer and bring us closer to a comprehensive understanding of the underlying mechanisms driving the development of various forms of cancer. |
format | Online Article Text |
id | pubmed-10406856 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-104068562023-08-09 Mutational landscape of cancer-driver genes across human cancers Sinkala, Musalula Sci Rep Article The genetic mutations that contribute to the transformation of healthy cells into cancerous cells have been the subject of extensive research. The molecular aberrations that lead to cancer development are often characterised by gain-of-function or loss-of-function mutations in a variety of oncogenes and tumour suppressor genes. In this study, we investigate the genomic sequences of 20,331 primary tumours representing 41 distinct human cancer types to identify and catalogue the driver mutations present in 727 known cancer genes. Our findings reveal significant variations in the frequency of cancer gene mutations across different cancer types and highlight the frequent involvement of tumour suppressor genes (94%), oncogenes (93%), transcription factors (72%), kinases (64%), cell surface receptors (63%), and phosphatases (22%), in cancer. Additionally, our analysis reveals that cancer gene mutations are predominantly co-occurring rather than exclusive in all types of cancer. Notably, we discover that patients with tumours displaying different combinations of gene mutation patterns tend to exhibit variable survival outcomes. These findings provide new insights into the genetic landscape of cancer and bring us closer to a comprehensive understanding of the underlying mechanisms driving the development of various forms of cancer. Nature Publishing Group UK 2023-08-07 /pmc/articles/PMC10406856/ /pubmed/37550388 http://dx.doi.org/10.1038/s41598-023-39608-2 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Sinkala, Musalula Mutational landscape of cancer-driver genes across human cancers |
title | Mutational landscape of cancer-driver genes across human cancers |
title_full | Mutational landscape of cancer-driver genes across human cancers |
title_fullStr | Mutational landscape of cancer-driver genes across human cancers |
title_full_unstemmed | Mutational landscape of cancer-driver genes across human cancers |
title_short | Mutational landscape of cancer-driver genes across human cancers |
title_sort | mutational landscape of cancer-driver genes across human cancers |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406856/ https://www.ncbi.nlm.nih.gov/pubmed/37550388 http://dx.doi.org/10.1038/s41598-023-39608-2 |
work_keys_str_mv | AT sinkalamusalula mutationallandscapeofcancerdrivergenesacrosshumancancers |