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Transcript
Table S8: Subtype specific mutations in the breast cancer cell line panel
Subtype
Gene Symbol
Description
LumB
AR
Androgen receptor,Steroidhormone txn factor activates
androgen-responsive genes
LumB
CDC42BPB
LumB
MYLK
# of LumB Cell Lines
with Mutation
Ser/thr protein kinase,
Downstream effector of cdc42
in cytoskeletal reorganization
Calcium/calmodulin
dependent kinase that
phosphorylates regulator
myosin light chains
Nature of
Mutations
Significance of
Mutation?
In frame deletion,
3 54_55 LL>L
NKS
Missense SNP,
3 R570Q
NKS
In frame deletion
3 of E1066
NKS
Missense SNP,
3 C136Y
Possibly decreases
PTEN phosphatase
activity (Han et al,
2000 Cancer Res)
In frame deletion
4 of P1684
NKS
LumB
PTEN
LumB
CHD1
PI3 phosphatase, tumor
suppressor, negatively
regulates AKT/PKB
Thought to alter txn via
alterations of chromatin
structure
Gene Symbol
Description
Basal-like
MN1
Not sure what it does, relevant
to meningioma and AML
Basal-like
MYO3B
Class III myosin
In frame deletion,
2 544_546 QQQ>Q
Missense SNP,
2 R1104W
RB1
Tumor suppressor, negative
regulator of the cell cycle,
stabilizes constitutive
heterochromatin, active form
binds E2F1
Missense SNP,
2 I388S
Subtype
Gene Symbol
Description
# of CL Cell Lines with
Mutation
Claudin-low
None Detected
Description
# of Her2E Cell Lines
with Mutation
***** Sequencing
data was avaialble
for all 6 of the
LumB cell lines
used in this
study*********
Subtype
Basal-like
# of BL Cell Lines with
Mutation
Nature of
Mutations
Significance?
NKS
NKS
***** Sequencing
data was avaialble
for 3 of the 4 BL
cell lines used in
this
study*********
Nature of
Mutations
Significance?
Nature of
Mutations
Significance?
***** Sequencing
data was avaialble
for 5 of the 6 CL
cell lines used in
this study (the
SUM102 cell line
was
unavailable)*****
****
Subtype
Her2
Her2
Gene Symbol
ABCA3
ATM
Membrane transporter
Regulates DSB repair,
decatenation chkpt, genomic
stability
Missense SNP,
2 D724E
NKS
Missense SNP,
2 E2468K
NKS
Her2
HSP90B1
Her2
MST1R
Her2
WNK2
Part of SAC, prevents
metaphase to anaphase
transition by inhibiting APC/C,
localized to the kinetochore
Apoptosis signaling, activates
NFkB
Molecular chaperone
responsible for protein
stabilization and folding
Tyrosine kinase activity, cell
surface receptor for
macrophage stimulating
protein
Ser/thr kinase, role in
electrolyte homeostasis,
proliferation, cell signaling
survival
PLEKHA5
Possibly role in phosphatidyl
inositol binding?
Missense SNP,
2 R600T
NKS
Retinoblastoma-like 2, key
regulator of entry into cell
division, epigenetic repression
of transcription via regulation
of histone methyltransferases
Myocyte cytoskeletal
development
Transcriptional coactivator of
RBM14, involved in nuclear
receptor activation
Missense SNP,
2 D392H
Nonsense
2 Mutation, P2255*
NKS
Her2
BUB1B
Her2
CARD10
Her2
Her2
RBL2
Her2
SPEG
Her2
SS18
***** Sequencing
data was avaialble
for all 4 of the
HER2E cell lines
used in this
study*********
Missense SNP,
2 S521F
In frame deletion
2 of KE272
NKS
NKS
In frame deletion
2 of E791
NKS
Missense SNP,
2 F400L
NKS
Missense SNP,
2 E398Q
NKS
Missense SNP,
2 D293N
NKS