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Updated: May 17, 2026
07:47
Multiomics Analysis of TMEM200A as a Pan-Cancer Biomarker
Published on: September 15, 2023
Molecular alterations associated with breast cancer mortality
Laura M Voeghtly1, Kim Mamula, J Leigh Campbell
1Clinical Breast Care Project, Windber Research Institute, Windber, Pennsylvania, United States of America.
Plos One
|October 12, 2012
Summary
Genomic instability, measured by allelic imbalance (AI), is higher in aggressive breast cancer. AI at chromosome 8p22 independently predicts breast cancer mortality, aiding in risk assessment for aggressive disease.
Area of Science:
- Genomics
- Cancer Biology
- Molecular Pathology
Background:
- Breast cancer exhibits significant heterogeneity, leading to varied clinical outcomes despite similar treatments.
- Identifying molecular alterations is crucial for improving risk stratification and treatment strategies for aggressive breast cancer.
Purpose of the Study:
- To investigate the association between allelic imbalance (AI) and clinical outcomes in invasive breast cancer.
- To identify specific chromosomal regions with AI that correlate with disease-specific mortality (DOD) versus long-term disease-free survival (DFS).
Main Methods:
- Generated allelic imbalance (AI) data from 122 invasive breast tumors with known clinical outcomes.
- Compared AI levels and patterns between patients who died of disease (DOD) and those with ≥5 years disease-free survival (DFS) using statistical analyses (Student t-test, chi-square).
Main Results:
- AI levels were significantly higher in tumors from DOD patients (28.6%) compared to DFS patients (20.1%).
- AI at chromosomes 7q31, 8p22, 13q14, 17p13.3, 17p13.1, and 22q12.3 correlated with DOD, while AI at 16q22-q24 correlated with DFS.
- AI at chromosome 8p22 emerged as an independent predictor of breast cancer mortality after multivariate analysis.
Conclusions:
- Breast tumors from DOD patients demonstrate increased genomic instability compared to DFS patients.
- AI at chromosome 8p22 is a significant, independent predictor of breast cancer mortality.
- AI at chromosome 13q14 is associated with late mortality, suggesting distinct genetic underpinnings for short- and long-term mortality in breast cancer patients.
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