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Table 1 Most frequently mutated breast cancer genes

From: Genetic heterogeneity in breast cancer: the road to personalized medicine?

  

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

  1. Summary of data from recent breast cancer sequencing studies cited in this mini-review [1417, 20, 21].