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PIONEERING CANCER RESEARCH
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Breast
BCM-0002
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: BCM-0002
Contact Model Developer
Model Contact
Model: BCM-0002
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-0002
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: 269
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
AFF1
chr4
87115243
87115243
C
A
c.2410C>A
Cac/Aac
p.H804N
0.044
12
1
Missense Variant
Missense Variant
MODERATE
ENST00000395146.8
.
12
1
ENST00000395146.8
.
AKAP9
chr7
92001306
92001306
G
T
c.1389G>T
atG/atT
p.M463I
0.386
115
73
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Benign
COSV62345589
0.376835000000
rs6964587
115
73
ENST00000356239.8
Benign
COSV62345589
rs6964587
AKAP9
chr7
92085597
92085597
C
T
c.8935C>T
Cct/Tct
p.P2979S
0.992
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
92077721
92077721
C
T
c.6791C>T
gCc/gTc
p.A2264V
0.116
115
1
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
.
115
1
ENST00000356239.8
.
AKAP9
chr7
92022864
92022864
A
AAAC
c.4004_4006dup
aaa/aAACaa
p.K1335_L1336insQ
0.358
115
73
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000356239.8
COSV62337888
rs10644111
115
73
ENST00000356239.8
COSV62337888
rs10644111
ALK
chr2
29193781
29193784
GCTC
G
c.4303_4305del
GAG/-
p.E1435del
0.325
115
2
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000389048.8
rs138827116
115
2
ENST00000389048.8
rs138827116
ALK
chr2
29193706
29193706
T
C
c.4381A>G
Atc/Gtc
p.I1461V
0.995
115
115
Missense Variant
Missense Variant
MODERATE
ENST00000389048.8
Benign
COSV101201052
0.997594000000
rs1670283
115
115
ENST00000389048.8
Benign
COSV101201052
rs1670283
ALK
chr2
29193500
29193500
G
C
c.4587C>G
gaC/gaG
p.D1529E
0.321
115
80
Missense Variant
Missense Variant
MODERATE
ENST00000389048.8
Benign
COSV66569695
0.472160000000
rs1881421
115
80
ENST00000389048.8
Benign
COSV66569695
rs1881421
AMER1
chrX
64192810
64192810
A
C
c.477T>G
ttT/ttG
p.F159L
0.956
23
16
Missense Variant
Missense Variant
MODERATE
ENST00000374869.8
Benign
COSV57654201
0.041796500000
rs34677493
23
16
ENST00000374869.8
Benign
COSV57654201
rs34677493
APC
chr5
112707798
112707840
CGGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCG
C
c.88_129del
GGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCG/-
p.S30_G43del
0.352
100
1
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000507379.5
.
100
1
ENST00000507379.5
.
APC
chr5
112841059
112841059
T
A
c.5465T>A
gTc/gAc
p.V1822D
0.979
100
100
Missense Variant
Missense Variant
MODERATE
ENST00000257430.9
Benign
COSV57321643
0.794920000000
rs459552
100
100
ENST00000257430.9
Benign
COSV57321643
rs459552
AR
chrX
67545316
67545331
TGCAGCAGCAGCAGCA
T
c.225_239del
ctGCAGCAGCAGCAGCAg/ctg
p.Q76_Q80del
0.966
101
16
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000374690.9
COSV104424802
.
101
16
ENST00000374690.9
COSV104424802
.
ARID1A
chr1
26775697
26775697
A
G
c.5114A>G
aAc/aGc
p.N1705S
0.34
48
4
Missense Variant
Missense Variant
MODERATE
ENST00000324856.13
Benign
COSV104411707
0.006846420000
rs61756316
48
4
ENST00000324856.13
Benign
COSV104411707
rs61756316
ARID1B
chr6
156778268
156778268
C
CCAG
c.609_611dup
-/CAG
p.Q214dup
0.978
80
4
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000636930.2
COSV51651299
.
80
4
ENST00000636930.2
COSV51651299
.
ATR
chr3
142558717
142558717
A
G
c.1792T>C
Tgg/Cgg
p.W598R
0.188
101
1
Missense Variant
Missense Variant
MODERATE
ENST00000350721.9
.
101
1
ENST00000350721.9
.
Total mutations showing: 269
F
P
1
2
3
4
5
6
7
8
9
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Rows Per Page
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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-0002
Patient
PDX
ER
HER2
PR
Metastasis Information for Model: BCM-0002
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-0002
Event Id
Treatment
Treatment Setting
Age at Start
Age at End
Duration
Clinical Response
Pathologic Response
Reason Stopped
10
Docetaxel,Doxorubicin
Neoadjuvant
43.62
44.12
183 days
Partial Response
Partial Response
Treatment Completed
15
Radiation Therapy
Adjuvant
43.7
43.87
62 days
Not Reported
Not Applicable
Treatment Completed
20
Docetaxel,Doxorubicin
Adjuvant
43.95
44.12
62 days
Not Reported
Not Applicable
Unknown
25
Docetaxel
Adjuvant
44.2
44.62
153 days
Not Reported
Not Applicable
Unknown
30
Tamoxifen
Adjuvant
45.62
50.45
1763 days
Not Reported
Not Applicable
Treatment Completed
35
Letrozole
Adjuvant
50.48
52.7
810 days
Not Reported
Not Applicable
Disease Progression
50
Carboplatin,Paclitaxel
Metastatic
52.77
54.13
496 days
Not Reported
Not Applicable
Unknown
55
Carboplatin
Metastatic
54.18
54.97
288 days
Not Reported
Not Applicable
Unknown
60
Anastrozole
Metastatic
55.62
56.08
168 days
Disease Progression
Not Applicable
Disease Progression
70
Radiation Therapy
Metastatic
56.0
56.1
37 days
Not Reported
Not Applicable
Treatment Completed
75
Capecitabine
Metastatic
56.08
57.0
336 days
Disease Progression
Not Applicable
Disease Progression
80
Gemcitabine
Metastatic
57.0
57.91
332 days
Disease Progression
Not Applicable
Disease Progression
90
Radiation Therapy
Metastatic
57.11
57.11
1
Not Reported
Not Applicable
Treatment Completed
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