papers/loveGeneticLandscapeMutations2012.md
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# Summary
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The 2012 study provided foundational insights into the genetic landscape of Burkitt lymphoma (BL),
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-identifying recurrent mutations in genes such as **MYC**, **ID3**, **ARID1A**, **SMARCA4**, and **TP53**.
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+describing recurrent mutations in genes such as *MYC*, *ID3*, *ARID1A*, *SMARCA4*, and *TP53*.
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Subsequent research has both validated and expanded upon these findings. Although this study identified some genes that are commonly mutated in BL. Some of its novel findings are of questionable
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significance in BL.
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## Reproduced Findings
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-- **ID3 Mutations**: The initial identification of **ID3** mutations in approximately one-third of BL cases
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+- **ID3 Mutations**: The initial identification of *ID3* mutations in approximately one-third of BL cases
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has been consistently corroborated. These mutations, particularly affecting the helix-loop-helix domain,
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are recognized as a hallmark of BL and are rare in other lymphomas.
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-- **ARID1A and SMARCA4 Mutations**: Mutations in **ARID1A** and **SMARCA4**, components of the SWI/SNF
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+- **ARID1A and SMARCA4 Mutations**: Mutations in *ARID1A* and *SMARCA4*, components of the SWI/SNF
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chromatin-remodeling complex, have been confirmed in BL. These mutations are often mutually exclusive,
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suggesting that alteration in one is sufficient to disrupt the complex's function.
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- **TP53 Mutations**: Alterations in **TP53** have been consistently observed in BL, underscoring its role
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in the disease's pathogenesis.
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## Expanded Insights
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-- **GNA13 Mutations**: The initial study noted mutations in **GNA13**. Further research has highlighted its
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+- **GNA13 Mutations**: The initial study noted mutations in *GNA13*. Further research has highlighted its
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role in BL, particularly in germinal center B cell–derived lymphomas.
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- **Additional Mutations**: Subsequent studies have identified mutations in genes such as **TCF3**,
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-**CCND3**, and **DDX3X**, which were not prominently featured in the 2012 study. These findings have
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+*CCND3*, and *DDX3X*, which were not prominently featured in the 2012 study. These findings have
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enriched the understanding of BL's genetic complexity.
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## Less Reproduced Findings
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-- **CCT6B, SALL3, FTCD, and PC Mutations**: The study reported mutations in **CCT6B**, **SALL3**, **FTCD**,
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-and **PC**. However, these findings have not been consistently replicated in subsequent research, suggesting
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-they may be less central to BL's pathogenesis or represent less common alterations.
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+- **CCT6B, SALL3, FTCD, and PC Mutations**: The study reported mutations in a large number of genes including *CCT6B*, *SALL3*, *FTCD*,
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+and *PC*. However, these findings have not been consistently replicated in subsequent research, suggesting
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+they may be less central to BL's pathogenesis or represent less common alterations. Most of the genes from this study are now in Tier 3.
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## Summary of novel genes
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