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IISc scientist explores the path taken by cancer mutations

  • Research Matters

Dr. Prathima Iengar, scientist from Indian Institute of Science, Bengaluru has been studying the different biological process that are affected by cancer. Her new study throws light on the genes and pathways that are most affected in cancer. 

Scientists worldwide are working hard to find a cure for cancer, however, in order to succeed, we better understand the disease first. The most important aspect of it is being able to find the key genes undergoing mutations and affecting processes in biological pathways, leading to cancer.

In the past 10 years, new cancer research strategies have developed, including extensive genome sequencing of cancer cells, and the information being available online for researchers. COSMIC (Catalogue of Somatic Mutations In Cancer), is one such online database which provides information about the somatically acquired mutations (mutations not inherited by children), found in different types of cancers. KEGG (Kyoto Encyclopedia of Genes and Genomes), is another online database dealing with human biological pathways. Moving in this direction, utilising online genome databases, Dr. Prathima Iengar has put one step forward, by conducting a genome wide computational study, to see what all genes and biological pathways are mostly affected by mutations in cancer.

The study published in Journal Genomics, investigates the genes mutated in 15 types of cancers, sourced from COSMIC. Analysed together with 297 biological pathways, sourced from KEGG (where the biological pathways have been grouped based on similar functions). The author called a gene as ‘frequently mutated’ if it was found to be mutated in 10 cancer samples studied. Further, the pathways, where these frequently mutated genes are found, were considered to be affected in cancer. 

The results were represented using novel doughnut plots, which makes it easier to visualize the  extent to which a gene and a pathway is targeted in each cancer type. Study revealed that, the biological processes (‘organismal systems’ pathway group), which operate at whole organism level (e.g. nervous system), are the most targeted pathway in cancer. This is quite surprising, as the most studied and recognized pathway groups in cancer are signal transduction, cell-cycle and apoptosis, and DNA repair. Thus, through this study, it is quite evident now that ‘organismal systems’ is one of the important pathway group in cancer which needs further attention and research. The study further throws light on the processes affected in pathways of 7 different cancer types.

The study results offer clinical implications, where organismal systems pathway group can be studied in detail to find molecules as new drug targets and mutations for early cancer diagnosis through genetic screening.