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Studying the connection between SF3B1 and four types of cancer by analyzing networks constructed based on published
Asmaa Samy1, Mehmet Kemal Ozdemir2, Reda Alhajj3,4,5
1The Graduate School of Engineering and Natural Science, Istanbul Medipol University, Istanbul, Turkey.
Abstract:
Splicing factor 3B subunit 1 (SF3B1) is the largest component of SF3b protein complex which is involved in the pre-mRNA splicing mechanism. Somatic mutations of SF3B1 were shown to be associated with aberrant splicing, producing abnormal transcripts that drive cancer development and/or prognosis. In this study, we focus on the relationship between SF3B1 and four types of cancer, namely myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and chronic lymphocytic leukemia (CLL) and breast cancer (BC). For this purpose, we identified from the Pubmed library only articles which mentioned SF3B1 in connection with the investigated types of cancer for the period 2007 to 2018 to reveal how the connection has developed over time. We left out all published articles which mentioned SF3B1 in other contexts. We retrieved the target articles and investigated the association between SF3B1 and the mentioned four types of cancer. For this we utilized some of the publicly available databases to retrieve gene/variant/disease information related to SF3B1. We used the outcome to derive and analyze a variety of complex networks that reflect the correlation between the considered diseases and variants associated with SF3B1. The results achieved based on the analyzed articles and reported in this article illustrated that SF3B1 is associated with hematologic malignancies, such as MDS, AML, and CLL more than BC. We found that different gene networks may be required for investigating the impact of mutant splicing factors on cancer development based on the target cancer type. Additionally, based on the literature analyzed in this study, we highlighted and summarized what other researchers have reported as the set of genes and cellular pathways that are affected by aberrant splicing in cancerous cells.
Insights
Splicing Factor 3B subunit 1 (SF3B1) mutations are linked to cancer. This study found SF3B1 is more associated with hematologic malignancies like MDS, AML, and CLL than breast cancer, with different gene networks impacting cancer development.
Area of Science:
- Molecular Biology
- Oncology
- Genetics
Background:
- Splicing Factor 3B subunit 1 (SF3B1) is a key component of the SF3b complex, crucial for pre-mRNA splicing.
- Somatic SF3B1 mutations are implicated in aberrant splicing, leading to abnormal transcripts that drive cancer development and influence prognosis.
Purpose of the Study:
- To investigate the relationship between SF3B1 and four cancer types: myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL), and breast cancer (BC).
- To analyze the evolution of SF3B1's connection to these cancers from 2007 to 2018 using literature mining.
Main Methods:
- Literature search on PubMed for articles linking SF3B1 to MDS, AML, CLL, and BC between 2007-2018.
- Utilized publicly available databases to retrieve gene, variant, and disease information related to SF3B1.
- Derived and analyzed complex networks to visualize correlations between SF3B1 variants and the studied cancers.
Main Results:
- SF3B1 demonstrates a stronger association with hematologic malignancies (MDS, AML, CLL) compared to breast cancer (BC).
- Identified that distinct gene networks may be necessary for understanding the impact of mutant splicing factors, varying by cancer type.
- Summarized genes and cellular pathways affected by aberrant splicing in cancer cells, based on the analyzed literature.
Conclusions:
- SF3B1 plays a significant role in hematologic malignancies, suggesting targeted therapeutic strategies.
- The impact of SF3B1 mutations on cancer development is context-dependent, requiring cancer-type specific network analysis.
- Aberrant splicing driven by SF3B1 mutations affects specific genes and pathways crucial for cancer cell biology.
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