Whole genome sequencing of breast cancer

Area of Science:

• Oncology
• Genomics
• Precision Medicine

Background:

• Breast cancer treatment has advanced with targeted therapies like endocrine therapy and HER2-targeted therapy.
• Precision medicine in oncology is increasingly driven by technological advancements, starting with transcriptomic analysis.
• Molecular subtyping has enhanced understanding of breast cancer biology, enabling personalized treatment allocation.

Purpose of the Study:

• To review the impact of whole-genome sequencing and high-throughput analytic approaches on individualized breast cancer treatment.
• To highlight the role of next-generation sequencing in identifying novel mutations and candidate genes for familial breast cancer.
• To discuss how advanced sequencing technologies contribute to personalized medicine strategies in breast cancer care.

Main Methods:

• Focus on whole-genome sequencing (WGS) as a key next-generation sequencing technology.
• Review of high-throughput analytic approaches in conjunction with WGS.
• Analysis of large-scale sequencing data to identify somatic and germline mutations.

Main Results:

• Next-generation sequencing is revealing novel somatic and targetable mutations in breast cancer.
• Identification of new candidate genes predisposing to familial breast cancer, with ~15% of patients being genetically predisposed.
• Genetically predisposed breast cancer often involves genes in genome maintenance pathways.

Conclusions:

• Whole-genome sequencing offers new possibilities for individualized breast cancer treatment.
• High-throughput sequencing technologies are crucial for advancing precision medicine in oncology.
• Continued integration of genomic data will further refine personalized treatment regimens for breast cancer patients.