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., 234,190 new cases and 40,730 deaths are estimated for 2015 (ACS 2015). 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

 

PI3K/AKT1/MTOR Pathway

AKT1

  • AKT1 mutations

PIK3CA

  • PIK3CA mutations

PTEN

  • PTEN mutations

 

Receptor Tyrosine Kinase/Growth Factor Signaling Pathway

ERBB2 (HER2/neu)

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

 

Contributors: Justin M. Balko, Pharm. D., Ph.D., Ingrid A. Mayer, M.D., M.S.C.I., Mia Levy, M.D., Ph.D., Carlos L. Arteaga, M.D.

Suggested Citation: Balko, J., I. Mayer, M. Levy, C. Arteaga. 2015. Molecular Profiling of Breast Cancer. My Cancer Genome http://www.mycancergenome.org/content/disease/breast-cancer/ (Updated June 17).

Last Updated: June 17, 2015

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