Molecular Characteristics of Breast
Cancer Subtypes
Subtype
Luminal A
Luminal B
Basal-like
HER2-enriched
TP53 pathway
•
TP53
mut (12%)
•
MDM2
gain (14%)
•
TP53
mut (32%)
•
MDM2
gain (31%)
•
TP53
mut
(84%)
•
MDM2
gain (14%)
•
TP53
mut (75%)
•
MDM2
gain (30%)
PIK3CA/PTEN
pathway
•
PIK3CA
mut (49%)
•
PTEN
mut/loss (13%)
•
INPP4B
loss (9%)
•
PIK3CA
mut (32%)
•
PTEN
mut/loss (24%)
•
INPP4B
loss (16%)
•
PIK3CA
mut (7%)
•
PTEN
mut/loss (35%)
•
INPP4B
loss (30%)
•
PIK3CA
mut (42%)
•
PTEN
mut/loss (19%)
•
INPP4B
loss (30%)
RB1 pathway
•
Cyclin D1 amp (29%)
•
CDK4
gain (14%)
•
Low expression of
CDK2NC
•
High expression of
RB1
•
Cyclin D1 amp (58%)
•
CDK4
gain (25%)
•
RB1
mut/loss (20%)
•
Cyclin E1 amp (9%)
•
High expression of
CDKN2A
•
Low expression of
RB1
•
Cyclin D1 amp (38%)
•
CDK4
gain (24%)
Molecular analysis of breast cancers provides insight into
signaling pathways that are frequently dysregulated in different subtypes, which can
guide drug development
amp, amplification; CDK4, cyclin-dependent kinase 4; CDK2NC, cyclin-dependent kinase inhibitor; INPP4B, inositol phosphatase-4-phosphatase type II; MDM2, mouse double minute 2
homolog; mut, mutation; PIK3CA, phosphatidylinositol 3-kinase catalytic subunit alpha; PTEN, phosphatase and tensin homolog; RB1, retinoblastoma 1; TP53, tumor protein 53.
The Cancer Genomic Atlas Network.
Nature
2012;490:61–70.
1
6
0
9
0
4
3
6
8
1