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Updated: Nov 30, 2025

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
Published on: July 17, 2019
Emerging BRAF Mutations in Cancer Progression and Their Possible Effects on Transcriptional Networks
Magdalena Śmiech1, Paweł Leszczyński1, Hidetoshi Kono2
1Institute of Genetics and Animal Biotechnology, Laboratory for Genome Editing and Transcriptional, Regulation, Polish Academy of Sciences, 05-552 Jastrzębiec, Poland.
Abstract:
Gene mutations can induce cellular alteration and malignant transformation. Development of many types of cancer is associated with mutations in the B-raf proto-oncogene (BRAF) gene. The encoded protein is a component of the mitogen-activated protein kinases/extracellular signal-regulated kinases (MAPK/ERK) signaling pathway, transmitting information from the outside to the cell nucleus. The main function of the MAPK/ERK pathway is to regulate cell growth, migration, and proliferation. The most common mutations in the BRAF gene encode the V600E mutant (class I), which causes continuous activation and signal transduction, regardless of external stimulus. Consequently, cell proliferation and invasion are enhanced in cancer patients with such mutations. The V600E mutation has been linked to melanoma, colorectal cancer, multiple myeloma, and other types of cancers. Importantly, emerging evidence has recently indicated that new types of mutations (classes II and III) also play a paramount role in the development of cancer. In this minireview, we discuss the influence of various BRAF mutations in cancer, including aberrant transcriptional gene regulation in the affected tissues.
Insights
Gene mutations in the B-raf proto-oncogene (BRAF) drive cancer by altering cell signaling. This review covers how common and new BRAF mutations, like V600E, impact cancer development and gene regulation.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Gene mutations are key drivers of cellular alteration and malignant transformation.
- The B-raf proto-oncogene (BRAF) is frequently mutated in various cancers.
- BRAF protein is integral to the MAPK/ERK pathway, regulating cell growth and proliferation.
Purpose of the Study:
- To review the influence of diverse BRAF mutations in cancer development.
- To highlight the role of both common (Class I, e.g., V600E) and emerging (Class II, III) BRAF mutations.
- To discuss aberrant transcriptional gene regulation associated with BRAF mutations.
Main Methods:
- Literature review of studies on BRAF mutations and cancer.
- Analysis of the MAPK/ERK signaling pathway's role in cancer.
- Examination of transcriptional changes induced by BRAF mutations.
Main Results:
- The BRAF V600E mutation (Class I) leads to constitutive MAPK/ERK pathway activation, enhancing cell proliferation and invasion.
- Class II and III BRAF mutations are increasingly recognized for their significant role in oncogenesis.
- BRAF mutations are associated with various cancers, including melanoma and colorectal cancer.
- Aberrant transcriptional gene regulation is a key consequence of BRAF mutations in affected tissues.
Conclusions:
- BRAF mutations, including V600E and newer classes, are critical in cancer development.
- Understanding these mutations is vital for targeted cancer therapies.
- BRAF's impact extends to transcriptional regulation, offering further avenues for therapeutic intervention.
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