Molecular Profiling of Breast Cancer
Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer death in females worldwide, accounting for 23% (1.38 million) of the total new cancer cases and 14% (458,400) of the total cancer deaths in 2008 (Jemal et al. 2011; Jemal, Siegel, and Ward 2010). In the U.S., 249,260 new cases and 40,890 deaths are estimated for 2016 (ACS 2016). Traditionally, treatment decisions have been based on tumor histology and the status of three main biomarkers: ER (estrogen receptor 1, or ESR1), PR (progesterone receptor, or PGR), and HER2 (erb-b2 receptor tyrosine kinase 2, or ERBB2, also known as neu). Despite significant improvements in the treatment of breast cancer, new therapies and treatment strategies are needed.
Hormone Signaling Pathway
ESR1
PGR
AR
AKT1
- AKT1 mutations
PIK3CA
- PIK3CA mutations
PTEN
- PTEN mutations
Receptor Tyrosine Kinase/Growth Factor Signaling Pathway
ERBB2 (HER2/neu)
- ERBB2 (HER2/neu) mutations
- ERBB2 Amplification
- ERBB2 Overexpression
FGFR1
FGFR2
Cell Cycle Control/DNA Damage
CCND1 (Cyclin D1)
- Cyclin D1 amplification
CDK4
- CDK4 alterations
CDK6
- CDK6 alterations
RB1
- RB1 alterations
TP53
- TP53 alterations
Suggested Citation: Balko, J., I. Mayer, M. Levy, C. Arteaga. 2016. Molecular Profiling of Breast Cancer. My Cancer Genome https://www.mycancergenome.org/content/disease/breast-cancer/ (Updated January 26).
Last Updated: January 26, 2016
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