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Genomic Applications in Pathology pp 359–382Cite as

Genomic Applications in Breast Carcinoma

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Abstract

Breast cancer comprises a heterogeneous collection of diseases each with its intrinsic molecular characteristics, prognosis, and response to therapy. The management of breast cancer patients depends upon careful histopathological analyses of tumors and the accurate assessment of estrogen receptor (ER), progesterone receptor (PR) and HER2. In the last few years, transcriptomic assays to determine the prognosis of breast cancer patients have been incorporated into the repertoire of molecular tests employed. Microarray-based gene expression studies have played a pivotal role in understanding the heterogeneity of breast cancers, and resulted in the development of a breast cancer molecular classification with prognostic implications and in the development of prognostic signatures. Many first-generation prognostic signatures have been developed; these signatures are based on the expression levels of proliferation-related genes, and some have been shown to be clinically useful to guide therapeutic decisions for ER-positive breast cancer patients. Additional prognostic signatures based on the expression levels of immune response-related genes have shown potential to be used for the prognostication of ER-negative breast cancers, but have yet to be developed into clinically useful tests. With the advent of massively parallel sequencing and the ability to characterize cancer genomes at base pair resolution, driver genes and actionable mutations have been identified. It is anticipated that sequencing-based assays will soon be incorporated into the diagnostic armamentarium of pathologists for the optimal selection of systemic therapies for breast cancer patients.

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Authors and Affiliations

  1. Department of Medical Oncology, Vall d’Hebron Institute of Oncology, Vall d’Hebron University Hospital, Barcelona, Spain

    Leticia De Mattos-Arruda

  2. Universitat Autònoma de Barcelona, Barcelona, Spain

    Leticia De Mattos-Arruda

  3. Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Leticia De Mattos-Arruda

  4. Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA

    Britta Weigelt & Jorge S. Reis-Filho

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  1. Leticia De Mattos-Arruda
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  2. Britta Weigelt
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  3. Jorge S. Reis-Filho
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Editors and Affiliations

  1. Departments of Pathology, Oncology and Urology, Johns Hopkins University, Baltimore, Maryland, USA

    George Jabboure Netto

  2. Department of Pathology, Stanford University School of Medicine, Stanford, California, USA

    Iris Schrijver

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De Mattos-Arruda, L., Weigelt, B., Reis-Filho, J.S. (2015). Genomic Applications in Breast Carcinoma. In: Netto, G., Schrijver, I. (eds) Genomic Applications in Pathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0727-4_23

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