Copy Number Alterations in Mechanobiological Genes for Metastatic-Status Classification: A Multicancer Machine-Learning Analysis

Metastasis is the leading cause of cancer-related mortality, highlighting the need for reliable diagnostic markers and molecular targets that distinguish primary and metastatic tumors. Genes involved in actin cytoskeleton organization and cell mechanics regulate cell migration and invasion and may represent both markers and functional targets of metastatic progression. This study investigated whether copy number alterations (CNAs) in an eleven-gene mechanobiology-related panel (FSCN1, GSN, ACTN4, EZR, CFL1, MYH9, PFN1, TAGLN, ECM1, ANXA2, ANXA6) can distinguish primary from metastatic tumors across breast, pancreatic, and gastric cancers. Publicly available cBioPortal datasets were analyzed using supervised machine-learning algorithms trained on gene-level CNA data. Models trained on combined multicancer datasets showed improved classification performance, evaluated on a held-out breast cancer test set, compared with breast cancer-only training, with Random Forest achieving the highest accuracy (0.851) and F1-score (0.844). Feature importance analysis identified PFN1, ECM1, and FSCN1 as the strongest contributors to metastatic classification, with ANXA6 also showing consistent relevance; permutation importance confirmed PFN1, ANXA6, and FSCN1 in both models. These findings suggest that copy number alterations in mechanobiology-related genes capture genomic patterns associated with metastatic status and may serve as candidate diagnostic biomarkers, warranting further functional and expression-level validation to assess their potential as therapeutic targets.

Authors

Institutions

Publication Details

Journal
Targets
Published
2026-11-05
DOI
https://doi.org/10.3390/targets4040037
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
NOV
article

Copy Number Alterations in Mechanobiological Genes for Metastatic-Status Classification: A Multicancer Machine-Learning Analysis

Margarita V. Pustovalova, Yulia Merkher, Shorina Anna, Sergey V. Leonov
Targets
Cancer Genomics and Diagnostics
article

Copy Number Alterations in Mechanobiological Genes for Metastatic-Status Classification: A Multicancer Machine-Learning Analysis

Margarita V. Pustovalova, Yulia Merkher, Shorina Anna, Sergey V. Leonov
article en

Abstract

Metastasis is the leading cause of cancer-related mortality, highlighting the need for reliable diagnostic markers and molecular targets that distinguish primary and metastatic tumors. Genes involved in actin cytoskeleton organization and cell mechanics regulate cell migration and invasion and may represent both markers and functional targets of metastatic progression. This study investigated whether copy number alterations (CNAs) in an eleven-gene mechanobiology-related panel (FSCN1, GSN, ACTN4, EZR, CFL1, MYH9, PFN1, TAGLN, ECM1, ANXA2, ANXA6) can distinguish primary from metastatic tumors across breast, pancreatic, and gastric cancers. Publicly available cBioPortal datasets were analyzed using supervised machine-learning algorithms trained on gene-level CNA data. Models trained on combined multicancer datasets showed improved classification performance, evaluated on a held-out breast cancer test set, compared with breast cancer-only training, with Random Forest achieving the highest accuracy (0.851) and F1-score (0.844). Feature importance analysis identified PFN1, ECM1, and FSCN1 as the strongest contributors to metastatic classification, with ANXA6 also showing consistent relevance; permutation importance confirmed PFN1, ANXA6, and FSCN1 in both models. These findings suggest that copy number alterations in mechanobiology-related genes capture genomic patterns associated with metastatic status and may serve as candidate diagnostic biomarkers, warranting further functional and expression-level validation to assess their potential as therapeutic targets.

TargetsVol. 4(4)
Technion – Israel Institute of Technology (IL), Centre of Advanced Studies (RU)
Openalex Percentile: Top 20%
Cancer Genomics and Diagnostics
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Laika access coming soon