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Translational Medicine / 转化医学Cancer Genomics & Liquid Biopsy

Ellen Heitzer

埃伦·海策尔

PhD

🏢Medical University of Graz(格拉茨医科大学)🌐Austria

Professor of Human Genetics; Head, Institute of Human Genetics人类遗传学教授;人类遗传学研究所所长

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Leading expert in cell-free DNA-based cancer detection, focusing on copy number variation (CNV) profiling and whole genome sequencing of cfDNA. Her work has demonstrated that shallow whole genome sequencing of plasma DNA enables robust cancer detection and tumor monitoring, driving accessible clinical liquid biopsy.

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🧪Research Fields 研究领域

cfDNA Cancer DetectioncfDNA癌症检测
Copy Number Variation拷贝数变异
Whole Genome Sequencing of cfDNAcfDNA全基因组测序
Colorectal Cancer ctDNA结直肠癌ctDNA
Hereditary Cancer Genomics遗传性癌症基因组学
Liquid Biopsy液体活检

🎓Key Contributions 主要贡献

CNV-Based Liquid Biopsy

Established shallow whole-genome sequencing of cfDNA for copy number profiling as a cost-effective approach to cancer detection and monitoring, applicable across diverse tumor types.

Colorectal Cancer ctDNA

Characterized ctDNA dynamics in colorectal cancer across disease stages, linking ctDNA levels to surgical resection completeness, MRD, and disease recurrence prediction.

Representative Works 代表性著作

[1]

Circulating tumor DNA as a liquid biopsy for cancer

Clinical Chemistry (2015)

Comprehensive analysis of ctDNA technology, clinical applications, and regulatory considerations, widely cited as a foundational reference in the field.

[2]

Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing

Genome Medicine (2013)

Demonstrated genome-wide CNV profiling from plasma enables tumor characterization and monitoring in prostate cancer.

🏆Awards & Recognition 奖项与荣誉

🏆Austrian Science Fund START Award
🏆European Research Council Consolidator Grant
🏆Austrian Cancer Aid Research Prize

📄Data Sources 数据来源

Last updated: 2026-01-15 | All information from publicly available academic sources

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