Breast Cancer Genomics: Primary and Most Common Metastases

Abstract

Specific genomic alterations have been found in primary breast cancer involving driver mutations that result in tumorigenesis. Metastatic breast cancer, which is uncommon at the time of disease onset, variably impacts patients throughout the course of their disease. Both the molecular profiles and diverse genomic pathways vary in the development and progression of metastatic breast cancer. From the most common metastatic site (bone), to the rare sites such as orbital, gynecologic, or pancreatic metastases, different levels of gene expression indicate the potential involvement of numerous genes in the development and spread of breast cancer. Knowledge of these alterations can, not only help predict future disease, but also lead to advancement in breast cancer treatments. This review discusses the somatic landscape of breast primary and metastatic tumors.

Keywords: breast cancer genomics; driver mutations; metastatic breast cancer; molecular subtypes; organotropism; primary breast cancer.

Figure 1

Heterogeneity of cancers. Driver (red) and passenger (black) mutations in the development of a tumor. Driver mutations are much less common than passenger mutations and involve genes implicated in cancer pathways. Figure reproduced with permission by Vandin [21]. http://creativecommons.org/licenses/by/4.0/, accessed on 2 May 2022.

Figure 2

Molecular subtypes of BC and sites of the most commonly reported metastases. From Chen W, Hoffman AD, Liu H, Liu X. Organotropism: new insights into molecular mechanisms of breast cancer metastasis. NPJ Precis. Oncol. 2018, 2, 4. DOI: 10.1038/s41698-018-0047-0 [28]. http://creativecommons.org/licenses/by/4.0/, accessed on 2 May 2022.

Figure 3

Adapted from Wang C, Xu K, Wang R. Heterogeneity of BCSCs contributes to the metastatic organotropism of breast cancer. J. Exp. Clin. Cancer Res. 2021, 40, 370 (2021). http://doi.org/10.1186/s13046-021-02164-6 [25,75]. http://creativecommons.org/licenses/by/4.0/, accessed 2 May 2022.

Figure 4

Adapted from Wang C, Xu K, Wang R. Heterogeneity of BCSCs contributes to the metastatic organotropism of breast cancer. J. Exp. Clin. Cancer Res. 2021, 40, 370 (2021). http://doi.org/10.1186/s13046-021-02164-6 [25,75]. http://creativecommons.org/licenses/by/4.0/, accessed 2 May 2022.