Summary of the project:
The ALK gene is a transmembrane tyrosine kinase receptor that encodes for the ALK protein and performs during embryogenesis in the nervous system. Mutation in the ALK gene can occur during translocation with another gene, leading to a fusion oncogene that can be found in various types of cancers.ALK gene rearrangement is a driving mutation behind the development of non-small-cell lung cancer (NSCLC), one of the deadliest cancers. ALK has become the main source for cancer therapy due to a finding of a recurring ALK gene translocation in a subset of NSCLC. Hence, we used the publicly available cancer database, COSMIC and performed a brief analysis to examine the mutational nature and the expression status of the ALK gene in different cancer types..
We found that the most observed mutation in the ALK gene in cancer samples involve missense substitutions at 81.71%. According to analysis, G>A substitution had the highest frequency in the ALK gene within these substitutions. Furthermore, breast cancer had the highest expression in the ALK gene having 1104 cases out of 9,134 tested. Additionally, placenta cancer had the highest frequency of ALK mutation at 20%.
Funding body: NA
Funding year: NA
Funding Year: 2019
Mentor: Roshan Lal Shrestha, PhD., Center for Health and Disease Studies Nepal (CHDS-Nepal)
Summer intern student: Rachel Aakriti Malla High School Student, Virginia
Publication: Not Yet