Whole-genome landscapes of 1,364 breast cancers - Nature

"Breast cancer remains a substantial global health challenge, and possesses significant molecular and clinical heterogeneity1. Over the past few decades, advances in understanding of genomic drivers have led to improved treatment modalities, including targeted therapies and immunotherapies5. However, recurrence and metastasis of breast cancers remain common, underscoring the need for a deeper understanding of the biology. Recent advances in genomic technology serve as essential assets to unravel the genetic complexities of breast cancer, facilitating personalized treatment approaches to improve outcomes."

"Over the past few decades, academic-driven cancer genome research has analysed more than 10,000 cancer genomes across diverse cancer types8,9,10. Although these studies have identified and archived many genomic mutations, their clinical significance often remains unclear owing to insufficient integration of clinical records. To maximize the real-world impact of genome sequencing, it will be essential to integrate genomic data with comprehensive medical records, including treatment responses, disease recurrence and long-term clinical outcomes11."

Breast cancer exhibits extensive molecular and clinical heterogeneity that complicates treatment. Advances in genomic driver understanding enabled targeted therapies and immunotherapies, yet recurrence and metastasis remain common. Genomic technologies reveal genetic complexities and support personalized approaches. Targeted sequencing often misses genomic rearrangements, copy-number alterations, and mutational signatures outside targeted regions. Whole-genome sequencing captures the full spectrum of genomic changes and provides an unbiased view for discovery and biomarker exploration. Large-scale cancer genome projects analyzed over 10,000 genomes but often lacked clinical integration. Integrating comprehensive medical records with genomic data is essential to translate genome sequencing into clinical impact. Whole-genome sequencing was performed on 1,364 Korean breast cancers with full medical records.

Read at Nature