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PIONEERING CANCER RESEARCH
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Breast
BCM-0113
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: BCM-0113
Contact Model Developer
Model Contact
Model: BCM-0113
Model Contact: Michael Lewis
Institution: BCM Breast PDX Program
Email:
mtlewis@bcm.edu
Patient Information
Clinical Timeline
Color Keys:
Positive
Negative
N/A
Clinical Information at Collection
Clinical Biomarkers/Mutations at Collection
Pathology Information at Collection
Model Information for Model: BCM-0113
Model Details - Initial Implantation of Patient Tissue
Biomarkers & Mutations
Model Details - Acceptable Conditions for Passaging
Mutations (Cancer Gene Census List)
Show/Hide Columns
The number of models in this collection with mutations in the listed gene;
may include models that are not publicly available for distribution.
The number of models in this collection with mutations at the listed site;
may include models that are not publicly available for distribution.
Total mutations showing: 285
F
P
1
2
3
4
5
6
7
8
9
10
N
E
Rows Per Page
10
15
25
50
Download
Gene
Filter by Gene
Chr
Filter by Chr
Start
End
Ref
Alt
cDNA Change
Codon Change
Protein Change
TVAF
Gene Mutation Freq.
Site Mutation Freq.
Most Severe Effect
All Effects
Mutation Impact
Transcript ID
ClinVar Clinical Significance
COSMIC ID
gnomAD Non-Cancer AF
dbSNP ID
Gene Mutation Freq.
Site Mutation Freq.
Transcript ID
ClinVar Clinical Significance
COSMIC ID
dbSNP ID
AFF3
chr2
99593872
99593873
CG
C
c.1863del
gcC/gc
p.D623Tfs*48
0.429
56
6
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000409579.5
COSV57841232
rs201754690
56
6
ENST00000409579.5
COSV57841232
rs201754690
AFF3
chr2
99593875
99593880
CTGAGG
C
c.1856_1860del
aCCTCA/a
p.T619Sfs*72
0.429
56
6
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000409579.5
COSV57864141
rs199557232
56
6
ENST00000409579.5
COSV57864141
rs199557232
AKAP9
chr7
92001306
92001306
G
T
c.1389G>T
atG/atT
p.M463I
0.367
115
73
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Benign
COSV62345589
0.376835000000
rs6964587
115
73
ENST00000356239.8
Benign
COSV62345589
rs6964587
AKAP9
chr7
92105709
92105709
G
C
c.11362G>C
Gtc/Ctc
p.V3788L
0.408
115
1
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Conflicting_interpretations_of_pathogenicity
0.000139277000
rs199527737
115
1
ENST00000356239.8
Conflicting_interpretations_of_pathogenicity
rs199527737
AKAP9
chr7
92085597
92085597
C
T
c.8935C>T
Cct/Tct
p.P2979S
0.952
115
115
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Benign/Likely_benign
COSV104663065
0.996325000000
rs1063242
115
115
ENST00000356239.8
Benign/Likely_benign
COSV104663065
rs1063242
AKAP9
chr7
92083384
92083384
A
G
c.8375A>G
aAt/aGt
p.N2792S
0.556
115
62
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Benign/Likely_benign
COSV62339152
0.357813000000
rs6960867
115
62
ENST00000356239.8
Benign/Likely_benign
COSV62339152
rs6960867
AKAP9
chr7
92022864
92022864
A
AAAC
c.4004_4006dup
aaa/aAACaa
p.K1335_L1336insQ
0.667
115
73
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000356239.8
COSV62337888
rs10644111
115
73
ENST00000356239.8
COSV62337888
rs10644111
ALK
chr2
29193706
29193706
T
C
c.4381A>G
Atc/Gtc
p.I1461V
0.992
115
115
Missense Variant
Missense Variant
MODERATE
ENST00000389048.8
Benign
COSV101201052
0.997594000000
rs1670283
115
115
ENST00000389048.8
Benign
COSV101201052
rs1670283
ANK1
chr8
41695291
41695291
G
A
c.3001C>T
Cgt/Tgt
p.R1001C
0.227
37
1
Missense Variant
Missense Variant
MODERATE
ENST00000289734.13
0.000008442020
rs148222043
37
1
ENST00000289734.13
rs148222043
AR
chrX
67545316
67545322
TGCAGCA
T
c.234_239del
ctGCAGCAg/ctg
p.Q79_Q80del
0.935
101
24
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000374690.9
COSV65952724
.
101
24
ENST00000374690.9
COSV65952724
.
ARHGEF10L
chr1
17697181
17697181
C
T
c.3641C>T
gCc/gTc
p.A1214V
0.025
14
1
Missense Variant
Missense Variant
MODERATE
ENST00000361221.8
.
14
1
ENST00000361221.8
.
ARID2
chr12
45850443
45850443
C
T
c.2320C>T
Cca/Tca
p.P774S
0.073
20
1
Missense Variant
Missense Variant
MODERATE
ENST00000334344.11
.
20
1
ENST00000334344.11
.
ATM
chr11
108247071
108247071
C
T
c.1009C>T
Cgt/Tgt
p.R337C
0.407
51
1
Missense Variant
Missense Variant
MODERATE
ENST00000278616.8
Uncertain_significance
COSV53723836
0.000080277800
rs138398778
51
1
ENST00000278616.8
Uncertain_significance
COSV53723836
rs138398778
ATM
chr11
108292644
108292644
T
TAACG
c.4462_4463insAACG
tta/tAACGta
p.L1488*
0.032
51
1
Frameshift Mutation
Frameshift Mutation; Nonsense Mutation
HIGH
ENST00000278616.8
.
51
1
ENST00000278616.8
.
ATR
chr3
142562770
142562770
A
G
c.632T>C
aTg/aCg
p.M211T
0.312
101
91
Missense Variant
Missense Variant
MODERATE
ENST00000350721.9
Benign/Likely_benign
COSV63383325
0.545488000000
rs2227928
101
91
ENST00000350721.9
Benign/Likely_benign
COSV63383325
rs2227928
Total mutations showing: 285
F
P
1
2
3
4
5
6
7
8
9
10
N
E
Rows Per Page
10
15
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50
Download
CNV
PDX Validation
In order to validate the identity of Baylor College of Medicine patient-derived xenograft (PDX) models, short tandem repeat (STR) testing is performed at the Cytogenetics and Cell Authentication core facility at MDACC. STR testing is performed on tissue from the initial tumor grown in the mouse (transplant generation 1 - TG1) and from a patient sample when possible. Thereafter, STR testing is performed every five transplant generations (TG5, TG10, TG15, and TG20). In the case that a PDX model is transplanted from viably frozen tissue to restart the model, the PDX Core will test the first outgrowth to confirm identity and every five transplant generations thereafter. In addition to STR, we assess clinical biomarkers and histology every 5th transplant generation. Finally, RNAseq gene expression profiles are evaluated periodically to ensure consistency with previous results and to evaluate phenotypic drift. If a significant change in PDX biology is noted, we identify the last known stable stock and re-start the model.
Histology Information for Model: BCM-0113
Patient
PDX
ER
H&E
HER2
PR
Metastasis Information for Model: BCM-0113
Patient
PDX
Abdomen
Adrenal gland
Bone
Bones
Brain
CTC
Chest
Chest wall
Contralateral Breast
Dura
Fallopian Tubes
Head
Kidney
Liver
Lung
Lymph node
Lymph nodes
Neck
Ovary
Pancreas
Pericardium
Peritoneal cavity
Peritoneum
Pleura
Pleural effusion
Shoulder
Skin
Spine
Spleen
Thoracic Spine
Thymus
Patient Treatment Information for Model: BCM-0113
Event Id
Treatment
Treatment Setting
Age at Start
Age at End
Duration
Clinical Response
Pathologic Response
Reason Stopped
10
Doxorubicin
Neoadjuvant
63.46
63.54
29 days
Not Reported
Not Reported
Unknown
15
Cyclophosphamide,Doxorubicin
Neoadjuvant
63.62
63.79
62 days
Not Reported
Not Reported
Treatment Completed
20
Docetaxel
Neoadjuvant
63.85
63.85
1
Not Reported
Not Reported
Side Effects
25
Paclitaxel
Neoadjuvant
63.91
63.99
29 days
Not Reported
Not Reported
Side Effects
35
Carboplatin
Adjuvant
64.16
64.34
66 days
Not Reported
Not Applicable
Treatment Completed
50
Capecitabine,Ixabepilone
Metastatic
64.49
64.68
69 days
Not Reported
Not Applicable
Unknown
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