G e n o m i c P ro f i l i n g an d

L i q u i d B i o p s i e s f o r B re a s t
Cancer
Clayton T. Marcinak, MDa,b,1,
Muhammed Murtaza, MBBS, PhDa,b,2, Lee G. Wilke, MD
a,c,
*

KEYWORDS
 Breast cancer  Genomics  Sequencing  Liquid biopsy  Oncology

KEY POINTS
 Multiple gene-expression profiling assays are now commercially available. One assay,
OncotypeDx, has been incorporated into staging and treatment guidelines, with high-
level evidence supporting its use as a clinical decision-making tool.
 Next-generation sequencing of the cancer genome has led to a wealth of new information
regarding potential pathways of treatment and resistance.
 Analysis of cell-free DNA is a promising avenue of research and development, including in
the realm of early detection and monitoring of minimal residual disease.

INTRODUCTION

In the early 2000s, with the mapping of the human genome and The Cancer Genome
Atlas (TCGA), great advances were made in understanding the genomic alterations
underlying many diseases, inclusive of neoplasms.1 In breast cancer, researchers
and society in general had previously come to widely appreciate the genetic basis
of cancer—that is, the inherited predisposition to the disease posed by somatic mu-
tations such as BRCA1, BRCA2, PALB2, CDH1, and others.2 In contrast, the cancer
genome refers to those mutations identified in a malignancy, rather than germline mu-
tations found in all of an individual’s cells. These genomic alterations have shown util-
ity as markers for both targeted therapy and patient-specific treatment plans, giving
rise to the era of precision oncology.

a
Department of Surgery, University of Wisconsin–Madison, Madison, WI, USA; b Center for
Human Genomics and Precision Medicine, University of Wisconsin–Madison, Madison, WI, USA;
c
University of Wisconsin Carbone Cancer Center, Madison, WI, USA
1
Present address: 600 Highland Avenue, MC 7375, Madison, WI 53792.
2
Present address: 1111 Highland Avenue, WIMR West Wedge 2770, Madison, WI 53705.
* Corresponding author. 600 Highland Avenue, K4/624, Madison, WI 53792.
E-mail address: wilke@surgery.wisc.edu
Twitter: @ctmarcinak (C.T.M.); @LeeWilke (L.G.W.)

Surg Clin N Am 103 (2023) 49–61

https://doi.org/10.1016/j.suc.2022.08.003 surgical.theclinics.com
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