Characterization of potential driver mutations involved in human breast cancer by computational approaches
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// Barani Kumar Rajendran 1 and Chu-Xia Deng 1 1 Cancer Research Centre, Faculty of Health Sciences, University of Macau, Macau SAR, China Correspondence to: Chu-Xia Deng, email: cxdeng@umac.mo Keywords: driver mutations, breast cancer, cancer drivers, breast cancer driver genes, genetic mutations Received: February 08, 2017 Accepted: March 26, 2017 Published: April 19, 2017 ABSTRACT Breast cancer is the second most frequently occurring form of cancer and is also the second most lethal cancer in women worldwide. A genetic mutation is one of the key factors that alter multiple cellular regulatory pathways and drive breast cancer initiation and progression yet nature of these cancer drivers remains elusive. In this article, we have reviewed various computational perspectives and algorithms for exploring breast cancer driver mutation genes. Using both frequency based and mutational exclusivity based approaches, we identified 195 driver genes and shortlisted 63 of them as candidate drivers for breast cancer using various computational approaches. Finally, we conducted network and pathway analysis to explore their functions in breast tumorigenesis including tumor initiation, progression, and metastasis.
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In human tumors, altered expression of endocytic regulatory factors such as clathrin-hc, clathrin-like, Caveolin-1, Nexin-1, and Numb along with driver mutations are crucial for endocytosis.
“In addition, in human tumors, altered expression of various endocytic regulatory factors such as clathrin-hc, clathrin- like, Caveolin-1, Nexin-1, and Numb along with driver mutations are crucial for endocytosis [102,103].”
From Insights of Endocytosis Signaling in Health and Disease (2023) · cites this paper as [102]
The Introduction and ‘Functional Effects of Breast Cancer Drivers in Tumorigenesis’ discuss driver mutations and their roles in cancer, but do not connect them to endocytosis. Searches for endocytosis, clathrin, Caveolin-1, Nexin-1, and Numb found no passage addressing the claimed altered expression of those factors or their role in endocytosis. The supplied passages have no page numbers. (LLM, conf=0.72)
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Cited by
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Insights of Endocytosis Signaling in Health and Disease
Pathak, C., Vaidya, F. U., Waghela, B. N., Jaiswara, P. K., Gupta, V. K., Kumar, A., Rajendran, B. K., & Ranjan, K. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032971 · Cited by 59 · see citing works
Self-citation
- Authors
- Rajendran, B. K., & Deng, C.-X.
- Affiliations
- University of Macau (MO)
- Corresponding author
- Deng, Chu-Xia
- Venue
- Oncotarget
- Publisher
- Impact Journals, LLC
- Published
- 2017-04-19
- Volume
- 8
- Issue
- 30
- Pages
- 50252-50272
- ISSN
- 1949-2553 (ISSN-L)
- PMC
- PMC5564847
- OpenAlex
- W2607450268
- Cited by
- 73
- References
- 7
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 9 · 2023: 19 · 2022: 6 · 2021: 11 · 2020: 6 · 2019: 5 · 2018: 9 · 2017: 1 · 2016: 1
- FWCI
- 0.58
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- cc-by
- Locations
- Oncotarget (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Universidade de Macau (FDCT 094/2015/A3)
- Fundo para o Desenvolvimento das Ciências e da Tecnologia (094/2015/A3)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- breast cancer, driver mutations, driver genes, mutation frequency, gene regulatory networks, signaling pathways, tumor initiation, tumor progression, metastasis
- MeSH terms
- Breast Neoplasms, Female, Humans, Mutation, Computational Biology
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