Integrating genetics and epigenetics in breast cancer: biological insights, experimental, computational methods and therapeutic potential

Table 5 Current commercially available genetic test for BC and their principal characteristics

	Author	N. genes	Samples used to generate BC signature	Independent validation study	Laboratory
MammaPrint	van't Veer et al. [215]	70	− 78 BC patients	− 295 early stage invasive BC.	Agendia
MammaPrint	van't Veer et al. [215]	70	− 78 BC patients	− 302 who had received loco-regional therapy but no systemic adjuvant therapy	Agendia
Oncotype DX	Paik et al. [221]	21	− 447 BC patients	− 668 node negative ER positive tamoxifen treated cases	Genomic Health
Oncotype DX	Paik et al. [221]	21	− 447 BC patients	− 651 BC samples: 227 had been randomly assigned to tamoxifen adjuvant therapy and 424 to tamoxifen plus chemotherapy	Genomic Health
PAM50	Parker et al. [223]	50	− 189 BC patients	− 761 patients (no systemic therapy), 133 (neoadjuvant chemotherapy)	NanoString’s Prosigna™
Genomic Grade Index (GGI)	Sotiriou et al. [4]	97	− 64 BC patients	− 597 BC	Ipsogen
Genomic Grade Index (GGI)	Sotiriou et al. [4]	97	− 64 BC patients	− 55 endocrine-treated patients.	Ipsogen
Mammostrat	Bartlett et al. [225]	5	− 466 BC patients	− 299 BC, 344 BC	Clarient

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