Today, we learned about different types of gene mutations, as well as how some may lead to cancer. One type is Single Nucleotide Polymorphism (SNP), which involves difference between different people in one position of a base in the DNA sequence. When SNPs occur in non-coding regions, the change in the nucleotide sequence does not affect expression of the gene, since the non-coding region is spliced out and/or does not code for an amino acid in the protein. In the coding region, an SNP can be either synonymous, coding for the same amino acid as before the mutation, or non-synonymous, coding for a different amino acid or a stop codon. If the mutation causes a stop codon, it is a nonsense mutation. If another amino acid is coded for, it is a missense mutation. Driver genes are mutations that lead to selective growth benefits, actively causing development of cancer (1). Two types of driver genes are oncogenes and tumor suppressor genes (1). Active oncogenes promote uncontrolled cell growth and division, while mutated or inactivated tumor suppressor genes are unable to regulate cell growth and division as they normally would when activated, also leading to tumor formation.
1. https://www.cell.com/cell/fulltext/S0092-8674(13)00288-2


The gene mutation data used for the charts in the Jupyter Notebook below came from this site: https://xenabrowser.net/datapages/. classAI-25-07-29