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Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Nucleotide Substitution Biases in Related Cancer Driver Genes.

Adam Khadre1, Yifan Dou1, Golrokh C Mirzaei1

  • 1Department of Computer Science and Engineering, The Ohio State University, Columbus, OH 43210, USA.

International Journal of Molecular Sciences
|December 30, 2025
PubMed
Summary
This summary is machine-generated.

Cancer cells exhibit distinct nucleotide substitution patterns, particularly in coding regions. These specific mutation signatures, especially in cell cycle regulators, can help differentiate between various cancer types like lung, pancreas, and blood cancers.

Keywords:
cancermutation biasnucleotide substitutionpurifying selection

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Area of Science:

  • Genomics
  • Cancer Biology
  • Molecular Oncology

Background:

  • Nucleotide substitutions are prevalent in cancer cells, affecting both coding and non-coding DNA regions.
  • Alterations in coding regions significantly impact protein function and cellular transformation.
  • While some mutations are common across cancers, specific gene mutation signatures characterize distinct cancer types.

Purpose of the Study:

  • To investigate nucleotide substitution signatures within the coding regions of the top 25 most frequently mutated genes across multiple human cancers.
  • To determine if unique nucleotide substitution biases are associated with specific cancer types.
  • To identify potential driver genes with biased substitution patterns contributing to cellular transformation.

Main Methods:

  • Pan-cancer analysis of nucleotide substitutions in coding regions of frequently mutated genes.
  • Per-cancer analysis to identify specific substitution biases.
  • Principal component analysis (PCA) of nucleotide substitution patterns.

Main Results:

  • Guanine was the most frequently altered nucleotide, showing a bias towards G->A transitions across cancers.
  • Ten cancers exhibited biased nucleotide substitutions in specific genes, with some expected associations (e.g., KRAS in gastrointestinal cancers).
  • Seventeen genes showed biased signature substitutions, with 14 identified as drivers and linked to cell cycle regulation. PCA revealed distinct clustering for lung, pancreas, and blood cancers based on nucleotide signatures.

Conclusions:

  • Nucleotide substitution biases play a role in specific cancer gene alterations driving cellular transformation.
  • Distinct nucleotide substitution patterns can differentiate between certain cancer types, including lung, pancreas, and blood cancers.
  • Analysis of these substitution signatures offers potential for cancer subtyping and differentiation.