Solid review by ScienceDaily on two studies investigating cancer-driving mutations in non-coding DNA

Reviewed by: Matt Fairfax and Ryan Yee

Average Score: 4.5 / 5

In Summary: Two recent studies out of the Ontario Institute for Cancer Research have shed light on the nature and consequences of mutations within non-coding regions in the genome and the impact these can have on cancer progression/development. The story by ScienceDaily concisely summarizes the key discoveries of the research and includes direct quotes from some lead researchers on the project to provide a greater understanding for the reader. The research and story help provide a link to the roles non-coding sequence can play in human disease, especially given most of the human genome is not made up of genes that encode proteins.

Original News Story

Research Article 1

Research Article 2

Image by: Jermiah Joseph

Matt Fairfax

              ScienceDaily’s review highlights two recent studies that have identified cancer-driving mutations in ‘dark matter’ regions of the cancer genome. Both articles describe the presence of a single nucleotide base change that can result in what has been termed the “U1-snRNA mutation,” and their association with non-coding DNA (ncDNA).

              The first article primarily examines the relationship between mutations in ncDNA (more specifically, the U1-snRNA mutation) and sonic hedgehog (SHH) medulloblastomas (cancer). The second looked at the association of the same snRNA mutation and chronic lymphocytic leukemia and hepatocellular carcinomas, two notable subtypes of cancer. Both mutations were studied revealing the potential for a new target for treatment of various subtypes of cancers.

              As a whole, this review concisely summarizes the discoveries of the respective research while maintaining an objective stance regarding the implications of this finding. ScienceDaily’s review is highly effective in that it utilizes direct quotes from lead researchers Dr. Lincoln Stein and Dr. Michael Taylor to substantiate its claims. It should be noted that there was a moderate-to-high degree of scientific jargon within the article – although, this does not diminish its impact to the intended audience as any necessary terms have been clarified for the reader.

              There are some small issues regarding credibility of the report itself. In this article, the author fails to provide any information for themselves nor do they credit any sources independent of the research articles. Despite these minor issues, this article accurately reports the findings of this publication in a clear and understandable manner.

Ryan Yee

              This article by science daily provides a good review of two articles recently published in the journal Nature. Both articles investigate the association between specific mutations in non-coding DNA (ncDNA) and specific types of cancer.

               Almost all known proto-oncogenes are protein coding genes, yet almost all of the human genome is non-coding. Despite its lack of protein production, ncDNA still plays a role in gene expression as it can transcribe non-coding RNAs (such as snRNA). These non-coding RNAs can have many different functions in the cell such as spliceosome activation, mRNA sequestration and X-inactivation. The first research article primarily investigates the association between snRNA mutations and sonic hedgehog (SHH) medulloblastomas, while the second examines the same snRNA mutations with hepatocellular carcinomas and chronic lymphocytic leukemia (different types of cancers).

               The science daily review provides detailed summaries with direct quotes from the authors leading to an overall high-quality review. The review describes major results adequately with reference from lead researchers. Furthermore, the article remains objective and written in the third person throughout the review, writing with intent to inform the reader of new breakthroughs in an understudied area of cancer research.

               It is important to note that there were some major results from the original studies which were not mentioned in the review. First, the review only mentioned the link between the U1-snRNA mutation and adult SHH medulloblastomas, despite the research examining both adolescents and infants as well. It is slightly illogical to only talk about adults when the co-lead of the study is a paediatric neurosurgeon. The review also failed to mention a major finding from the second research article—the link between U1-snRNA mutation risk and alcoholism and its relation to hepatocellular carcinoma patient outcomes.

               Overall, this article provides an effective review that accurately describes the understudied research surrounding ncDNA mutations and cancer. Although the review omits results necessary for a detailed summary of the research, it still provides the major takeaways and sufficient information for the reader to grasp a superficial understanding.

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