On April 9th, a research team led by Professors Zhi-min Shao, Yi-zhou Jiang, and Xin Hu from Fudan University Affiliated Cancer Hospital systematically constructed the most comprehensive breast cancer genomic variation interaction network to date. They functionally analyzed the impact of genomic variation interactions on breast cancer treatment outcomes, potentially bringing new breakthroughs to precision treatment for breast cancer. The related research results were published in Cancer Cell.
With the widespread application of sequencing technology in clinical practice and deepening understanding of tumor genomics, precision treatment for breast cancer has made significant progress. However, the current focus on single genomic variation targets for treatment still has obvious limitations, urgently requiring further breakthroughs.
By deeply analyzing genomic data from breast cancer patients, the research team systematically constructed a comprehensive breast cancer genomic variation interaction network. Further functional analysis of genomic variation interaction events revealed that approximately 4.9% of luminal-type breast cancer patients carry concurrent TP53 mutations and AURKA copy number amplification, approximately 4.6% of triple-negative breast cancer patients have concurrent germline BRCA1 mutations and MYC copy number amplification, and approximately 7.3% of triple-negative breast cancer patients carry concurrent TP53 mutations and MYB copy number amplification. These findings can provide clinicians with more accurate tools for predicting treatment efficacy, thereby enabling the development of more personalized treatment plans for patients.
It is worth mentioning that the research team previously proposed the "Fudan classification" based on different genetic characteristics through genetic data analysis, and used it to divide triple-negative breast cancer into 4 different subtypes. This time, the research team found that the latter two concurrent events occur at different frequencies in the different subtypes of triple-negative breast cancer "Fudan classification," mainly occurring in the basal-like immune-suppressed (BLIS) subtype, further validating the biological characteristics of genomic instability and immune microenvironment suppression in the BLIS subtype.
Related paper information: https://doi.org/10.1016/j.ccell.2024.03.006
