JUL 27, 2020 5:49 AM PDT

Pediatric Cancer Mutations Show the Importance of Non-Coding Regions

WRITTEN BY: Carmen Leitch

A new computational tool was created by scientists at the Children's Hospital of Philadelphia (CHOP), and it has now revealed new mutations that are linked to five pediatric cancers. These mutations were identified in regions that do not code for protein, which makes up the vast majority of the genome. Since proteins carry out many of the vital functions of biology, research has focused primarily on the parts of the genome that code for protein. But this work, which has been reported in Science Advances, assessed the genomes of 500 pediatric cancer patients to create a list of mutations that may be causing cancer.

Image credit: Pixabay

"Noncoding mutations are very important because the noncoding portion of the genome typically regulates how genes are turned on and off, much like a control switch, which has implications for the uncontrolled growth that occurs in cancer," said the senior study author Kai Tan, Ph.D., a Professor of Pediatrics at CHOP. "However, these regions are also challenging to study, and our knowledge about them not as developed as that of coding regions. Our computational model has identified a set of targets in pediatric cancers that we hope to study further and eventually move to clinical practice."

The tool they developed is called PANGEA (predictive analysis of noncoding genomic enhancer/promoter alterations). They used it to look at different types of mutations including point mutations, copy number variations, indels, and structural variations. The analysis showed that 1,137 structural variants were affecting the expression of over 2000 genes in five types of pediatric cancers; they are potentially the most common kind of cancer-causing mutations.

The research indicated that coding mutations affect a different set of genes and the biochemical pathways they're involved in than noncoding mutations do. This may be because they are located in different parts of the genome.

Genes that play a role in metabolism were also found to be affected by noncoding mutations more often than other genes. The impact of these mutations on metabolism is unclear, however.

"Our results highlight the need for comparative analysis of both coding and noncoding mutations, which might reveal novel cancer-related genes and pathways," said Tan. "Identifying putative mutations is a starting point that will facilitate experimental work to validate these predictions."

Learn more about how mutations in non-coding regions are impacting cancer from the videos.

Sources: AAAS/Eurekalert! via CHOP, Science Advances

 

About the Author
  • Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
APR 29, 2021
Clinical & Molecular DX
We've Now Collected Over 1 Million Coronavirus Sequences
APR 29, 2021
We've Now Collected Over 1 Million Coronavirus Sequences
Over 1.2 million genome sequences collected from 172 countries have been uploaded to a data-sharing site over the course ...
MAY 30, 2021
Genetics & Genomics
Massive Genetic Study Reveals Risk Factors for Depression
MAY 30, 2021
Massive Genetic Study Reveals Risk Factors for Depression
It's estimated that 20% of Americans has experienced depression and that 4% of the global population is depressed. Genet ...
JUN 06, 2021
Genetics & Genomics
How Autism-Associated Mutations in One Gene Impact the Brain
JUN 06, 2021
How Autism-Associated Mutations in One Gene Impact the Brain
Autism spectrum disorder is complex; it presents differently in different patients and may be influenced by many factors ...
JUN 25, 2021
Genetics & Genomics
Towards More Efficient Plant Engineering with CRISPR-Cas9 Gene Drive
JUN 25, 2021
Towards More Efficient Plant Engineering with CRISPR-Cas9 Gene Drive
Many people in the world don't have access to enough food. And while humans might find ways to adapt to a changing world ...
JUL 07, 2021
Genetics & Genomics
How Double-Stranded DNA May Play a Critical Role in Memory and Recall
JUL 07, 2021
How Double-Stranded DNA May Play a Critical Role in Memory and Recall
Breaks in DNA are typically associated with harmful conditions, and the cell has ways to repair this damage. But it's be ...
JUL 14, 2021
Genetics & Genomics
Genetic Tools Can Aid Endangered Species
JUL 14, 2021
Genetic Tools Can Aid Endangered Species
Nature is in decline; the planet has lost a tremendous amount of biodiversity over the past few years due to human actio ...
Loading Comments...