Breast Cancer Genomics: Tackling Complexity with Functional Genomics and Patient-Derived Organoids

摘要

Breast cancer is a heterogeneous disease with multiple molecular subtypes and three major clinical subtypes: hormone receptor positive, HER2 positive, and triple negative breast cancer. These three clinical subtypes are very important because they determine the drugs used for patient treatment. Cellular, molecular, and genomic understanding of breast cancer has resulted in new treatments for breast cancer. In 2019, the FDA approved an oral PIK3CA inhibitor for PIK3CA mutated, hormone receptor positive, Stage IV breast cancer and immunotherapy for triple negative, Stage IV breast cancer. Major challenges facing future research on breast cancer and other cancers are: (1) Interpreting genome sequencing results to better understand the effects and significance of new or under-characterized mutations, and (2) having platforms for rapid biological testing of hypotheses. I will provide examples of how my laboratory is trying to address both of these challenges.