Genomic Pathology and Biomarkers in Breast Cancer.

Abstract

Breast cancer is a highly heterogeneous disease. There are significant differences in morphology, immunophenotype, clinical behavior, and treatment response in breast cancer, which pose the greatest challenge for managing breast cancer patients. Great advances in breast cancer have been made at the molecular and genomic levels, which not only help us greatly in better understanding the heterogeneity and the carcinogenesis for breast cancer, but also help us in identifying new prognostic markers and therapeutic targets. In this review, we discuss these new findings in detail: (1) the two main pathways of the pathogenesis for breast cancer; (2) the traditional biomarkers including ER, PR, HER2, and some controversial biomarkers - Ki67, p53, AR, FRA for breast cancer; (3) the molecular classification of breast cancer, its IHC surrogates and its application in clinical management; (4) the multigene tests and their applications for breast cancer management; (5) next-generation sequencing and its clinical application for breast cancer; and (6) TIL and PD1/PD-L1 and their application in breast cancer.