The American Association for Cancer Research (AACR) held its annual conference from April 14th to 19th, 2023 in Orlando, USA. With numerous reports on clinical, fundamental, and translational cancer research presented each year, this year’s AACR conference delved deep into the realm of breast cancer. Research focused on the analysis of various susceptibility genes and risk-related biomarkers, aiming to discover new therapeutic targets and develop prognostic models, with the hope of providing improved services for patients.
1. Identification of Target Proteins and Blood Risk Biomarkers
Whole-genome association studies (GWAS) have identified approximately 200 loci related to breast cancer risk. Yet, the target proteins of most loci remain elusive. The study analyzed 133,384 breast cancer patients and 113,789 European control groups, leading to the identification of 22 blood protein biomarkers correlated with overall breast cancer risk. Emphasis was placed on genes associated with 124 breast cancer risk loci as determined by GWAS. Various biological processes involved include glutathione binding, STAT5 signaling, and NF-κB signaling pathway.
2. Impact of Mutation Type and Location on Breast Cancer Susceptibility
Recent studies have defined the risk of breast cancer in the general population due to pathogenic variants (PV) in breast cancer susceptibility genes. An analysis of 32,247 cases and 32,544 controls from the CARRIERS study, which includes 12 studies based on the US population, was conducted. It revealed that there are variations in risk based on the mutation type and location in genes such as BRCA1, BRCA2, ATM, CHEK2, and PALB2.
3. Prognostic Machine Learning Model for Early Breast Cancer
Accurately modeling patient characteristics and treatment outcomes can help in the selection of appropriate targeted therapies. Using the Breast Cancer Genomic Atlas (TCGA) dataset, a study applied a data-driven random survival forest method to simulate early-stage breast cancer prognosis. It was observed that the accuracy increased with more data sources. Genes like FGFR2 and CDKN2A showed a strong prognostic value.
Conclusion:
The 2023 AACR conference illuminated the way forward in breast cancer research by highlighting potential therapeutic targets and promising prognostic models. The integration of genomic and proteomic data, understanding mutation types, and leveraging machine learning all serve as a testament to the advancements in the field. As we continue to delve deeper into the molecular intricacies of breast cancer, it offers hope for better-targeted treatments and improved patient outcomes.
