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Genetic Risk Factors for Breast Cancer Subtypes

Nasim Mavaddat, MBBS, PhD1, Antonis C Antoniou, PhD1, and Montserrat Garcia-Closas, MD, DrPH2

Subtypes of breast cancer display distinct ontogeny and biology, and are predictive of clinical outcomes such as tumor recurrence, metastatic potential, and disease-specific survival. A common tumor classification of clinical relevance is that defined by the expression of immunohistochemical (IHC) markers: estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). Tumor classification based on gene-expression profiling distinguishes between at least five major breast cancer subtypes, namely luminal A, luminal B, HER2-enriched, basal-like, and “claudin-low” [1]. The subtypes defined by gene expression correlate with those defined by IHC, and the clinical utility of gene-expression profiling has not yet been established [2].

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