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Mutational Signatures in Gastric Cancer and Their Clinical Implications
Pia Pužar Dominkuš1,2, Petra Hudler2
1Pharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
Cancers
|August 12, 2023
Summary
Gastric cancer, often diagnosed late, shows high heterogeneity. Mutational signatures from genome sequencing offer new insights for diagnosing and treating this disease, potentially improving patient outcomes.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Gastric cancer presents significant inter- and intratumour heterogeneity, impacting patient outcomes.
- Late diagnosis due to nonspecific symptoms contributes to high mortality rates.
- Advances in genome sequencing have unveiled the potential of mutational signatures.
Purpose of the Study:
- To review mutational signatures identified in gastric cancer.
- To assess their clinical utility as diagnostic and prognostic biomarkers.
- To discuss current and emerging treatment strategies linked to these signatures.
Main Methods:
- Comprehensive literature review of studies on gastric cancer mutational signatures.
- Analysis of genome sequencing data to identify mutational patterns.
- Evaluation of existing and investigational biomarkers and treatments.
Main Results:
- Mutational signatures provide insights into gastric cancer aetiology and progression.
- These signatures hold potential for noninvasive molecular diagnosis.
- Several mutational signatures are associated with specific treatment responses.
Conclusions:
- Mutational signatures represent a promising avenue for improving gastric cancer diagnosis and prognosis.
- Further research is needed to translate these findings into routine clinical practice.
- Personalized treatment strategies may be developed based on individual mutational profiles.
Keywords:
chromosomal instabilitygastric cancergene expressiongenetic variabilityimmune checkpoint inhibitorsmicrosatellite instabilitymutational signaturesMore Related Videos
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