Plasma cell-free DNA chromosomal instability analysis by low-pass whole-genome sequencing to monitor breast cancer relapse

Background Chromosomal instabilities (CIN) of plasma cell-free DNA (cfDNA) are common in breast cancer. We aimed to investigate the value of cfDNA CIN in monitoring the breast cancer relapse and additionally to compare it with the traditional biomarkers (CA15-3 and CEA). Methods Overall 62 recurrent...

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Bibliographic Details
Published in:Breast cancer research and treatment 2019-11, Vol.178 (1), p.63-73
Main Authors: Zhou, Huanhuan, Wang, Xiao-Jia, Jiang, Xiyi, Qian, Ziliang, Chen, Tianhui, Hu, Yue, Chen, Zhan-Hong, Gao, Yun, Wang, Rong, Ye, Wei-Wu, Cao, Wen-Ming
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Area Under Curve
Biomarkers
Biomarkers, Tumor - genetics
Biomarkers, Tumor - metabolism
Breast cancer
Breast Neoplasms - diagnosis
Breast Neoplasms - genetics
Cancer
Cancer research
Carcinoembryonic Antigen - metabolism
Cell-Free Nucleic Acids - genetics
Chromosomal Instability
Confidence intervals
Copy number
Deoxyribonucleic acid
DNA
DNA sequencing
Female
Genetic aspects
Genetic research
Genomes
Genomic instability
Genomics
Humans
Investigations
Medicine
Medicine & Public Health
Middle Aged
Mucin-1 - metabolism
Neoplasm Recurrence, Local - diagnosis
Neoplasm Recurrence, Local - genetics
Nucleotide sequencing
Oncology
Preclinical Study
Relapse
ROC Curve
Whole Genome Sequencing - methods
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Summary:Background Chromosomal instabilities (CIN) of plasma cell-free DNA (cfDNA) are common in breast cancer. We aimed to investigate the value of cfDNA CIN in monitoring the breast cancer relapse and additionally to compare it with the traditional biomarkers (CA15-3 and CEA). Methods Overall 62 recurrent breast cancer patients and 20 healthy controls were recruited. Low-pass whole-genome sequencing (LPWGS) was performed to detect cfDNA CIN. A CIN score was calculated. The performance of CA15-3, CEA, and CIN score in monitoring the recurrence was investigated with receiver operating characteristic (ROC) curve and the area under curve (AUC). Multivariable Cox proportional hazard model was established to analyze the correlations between copy number gain/loss and disease-free survival (DFS). Results cfDNA CIN achieved the positive rate of 77.6% [(95% confidence interval (CI) 73.4–95.3%)] among recurrent breast cancer patients, with an AUC value of 0.933, superior to CA15-3 (positive rate: 38.7%; AUC: 0.864) and CEA (positive rate: 41.93%; AUC: 0.878) ( P 
ISSN:0167-6806
1573-7217
DOI:10.1007/s10549-019-05375-w