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Inocras, Samsung Medical Center and Seoul St. Mary’s Hospital Researchers Publish Groundbreaking Study with 1,364 Whole-Genomes of Breast Cancer in Nature

via Business Wire

Landmark study explores the whole genomes of 1,364 breast cancers, uncovering predictive biomarkers that link genomic signatures to potential treatment outcomes and support advancing precision oncology.

A research consortium led by Samsung Medical Center, Seoul St. Mary’s Hospital and bioinformatics partner Inocras Inc. has published the most comprehensive whole-genome breast cancer study of its kind in Nature.

Using Inocras’s proprietary whole-genome analysis platform CancerVision™, the team analyzed 1,364 breast cancer genomes, together with transcriptomic data and matched clinical records. With more than 10.9 million somatic mutations mapped, the research provides a strong foundation for advancing precision oncology, particularly in younger Asian breast cancer populations, which display unique genomic characteristics.

The study proves a new concept that combining whole-genome sequencing (WGS) and real-world clinical data enables data-driven biomarker discovery without specific clinical trials. Key discoveries from this study include (but not limited to):

  • Whole-genome homologous recombination deficiency (HRD) profiles predicting response to adjuvant chemotherapy in triple-negative breast cancer and first-line CDK4/6 inhibitor treatment in hormone receptor-positive metastatic breast cancer.
  • Extrachromosomal DNA-driven ERBB2 amplifications are strongly linked to superior responses to neoadjuvant chemotherapy in HER2-positive breast cancer.
  • Recurrent copy number amplifications (e.g., MYC, 9p23) correlated with poor survival.
  • Quantitative intratumoral heterogeneity (MATH scores) predicting survival outcomes and anti-HER2 therapy resistance.
  • Rare but recurrent fusion events were identified.

All data were processed and analyzed with CancerVision, Inocras’s whole-genome curation oncology solution, designed to handle tumor-normal samples with high clinical accuracy and scale. CancerVision enabled the integration of raw WGS data with curated clinical records, supporting the precision and reproducibility required for high-impact discovery.

Dr. Yeon Hee Park, Professor of Hematology-Oncology at Samsung Medical Center, commented, “The depth and scale of this dataset provide a new reference point for breast cancer research. Whole-genome analysis allowed us to identify biomarkers that can directly impact patient management today.”

Dr. Young Seok Ju, Co-Founder of Inocras, commented, “This study demonstrates what becomes possible when large-scale clinical cohorts are paired with cutting-edge analysis of cancer whole-genome data . With CancerVision, we were able to unlock genomic insights that are invisible to targeted panels, and we expect this to accelerate the use of WGS in routine cancer care. These findings bring us closer to personalized breast cancer therapy guided by a patient’s molecular profile, empowering better-informed decision making to improve ultimate outcomes.”

This resource sets a new benchmark in scale and depth for breast cancer genomics, enabling both clinicians and researchers to explore treatment responses, genomic drivers, and survival outcomes with exceptional clarity. The authors expect the dataset to become a defining reference for future cancer genome intelligence platforms, with applications across diagnostics, drug development, and personalized therapy.

The study, “Whole-genome landscapes of 1,364 breast cancers,” is available at https://www.nature.com/articles/s41586-025-09812-3.

About Inocras Inc.:

Inocras is a bioinformatics-led company redefining precision health through whole genome data and proprietary analytics. Our oncology and rare disease platforms integrate comprehensive whole genome data with advanced automation to deliver curated and actionable insights at scale that accelerate discovery and diagnostics to improve patient care, bringing a real-world impact. Inocras operates a CLIA/CAP-certified laboratory and partners with leading hospitals, pharmaceutical companies, and research institutions worldwide. For more information, please visit inocras.com and follow the Inocras LinkedIn page.

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