Table 1

Most frequently mutated breast cancer genes
Approximate mutation frequency (%)
Gene mutation Function Overall Luminal A Luminal B HER2-enriched Basal-like
PIK3CA catalytic subunit of PI3 kinase; key signal transduction enzyme involved in cellular growth, survival and insulin signaling 25-36 40-45 29 39 9
TP53 tumor suppressor; key regulator of cell cycle, DNA repair, apoptosis 27-37 12 29 72 80
GATA3 transcription factor which regulates luminal epithelial cell differentiation in the mammary gland 4-11 14 15 2 2
MAP3K1 kinase that activates ERK and JNK kinase pathways 3-8 13 5 4 0
MLL3 histone-lysine N-methyltransferase involved in transcriptional co activation 7 8 6 7 5
CDH1 cell-cell adhesion glycoprotein; loss-of-function mutations in E-cadherin are a feature of lobular breast cancer 7 9-10 5 5 0

Summary of data from recent breast cancer sequencing studies cited in this mini-review [14-17,20,21].

Baird and Caldas

Baird and Caldas BMC Medicine 2013 11:151   doi:10.1186/1741-7015-11-151

Open Data