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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: 92
F
P
1
2
3
4
5
6
7
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
AKAP9
chr7
92077721
92077721
C
T
c.6791C>T
gCc/gTc
p.A2264V
0.134
50
1
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
50
1
ENST00000356239.8
ALK
chr2
29193781
29193784
GCTC
G
c.4303_4305del
GAG/-
p.E1435del
0.346
10
2
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000389048.8
rs138827116
10
2
ENST00000389048.8
rs138827116
AR
chrX
67545316
67545331
TGCAGCAGCAGCAGCA
T
c.225_239del
ctGCAGCAGCAGCAGCAg/ctg
p.Q76_Q80del
0.706
48
1
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000374690.9
COSV104424802
48
1
ENST00000374690.9
COSV104424802
ARID1A
chr1
26775697
26775697
A
G
c.5114A>G
aAc/aGc
p.N1705S
0.339
19
2
Missense Variant
Missense Variant
MODERATE
ENST00000324856.13
Benign
COSV104411707
0.006846420000
rs61756316
19
2
ENST00000324856.13
Benign
COSV104411707
rs61756316
ARID1B
chr6
156778268
156778268
C
CCAG
c.609_611dup
-/CAG
p.Q214dup
0.871
37
2
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000636930.2
COSV51651299
37
2
ENST00000636930.2
COSV51651299
BCL9
chr1
147619856
147619859
CATG
C
c.1704_1706del
ATG/-
p.M568del
0.315
11
2
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000234739.8
rs587603499
11
2
ENST00000234739.8
rs587603499
CASP9
chr1
15493953
15493953
G
T
c.1097C>A
aCc/aAc
p.T366N
0.215
13
7
Missense Variant
Missense Variant
MODERATE
ENST00000333868.10
Benign
COSV99049509
0.002324200000
rs61738967
13
7
ENST00000333868.10
Benign
COSV99049509
rs61738967
CDH11
chr16
64998805
64998805
C
T
c.280G>A
Ggg/Agg
p.G94R
0.493
6
1
Missense Variant
Missense Variant
MODERATE
ENST00000268603.9
COSV51769306
6
1
ENST00000268603.9
COSV51769306
CHD2
chr15
92949063
92949063
C
G
c.1489C>G
Cat/Gat
p.H497D
0.049
5
1
Missense Variant
Missense Variant
MODERATE
ENST00000394196.9
5
1
ENST00000394196.9
CIITA
chr16
10909070
10909070
A
G
c.2702A>G
cAg/cGg
p.Q901R
0.936
85
84
Missense Variant
Missense Variant
MODERATE
ENST00000618327.4
Benign
0.983235000000
rs7197779
85
84
ENST00000618327.4
Benign
rs7197779
CLTCL1
chr22
19226293
19226293
G
A
c.1873C>T
Caa/Taa
p.Q625*
0.977
19
1
Nonsense Mutation
Nonsense Mutation
HIGH
ENST00000427926.6
0.000038334100
rs372403893
19
1
ENST00000427926.6
rs372403893
CNTRL
chr9
121125866
121125866
G
T
c.1955G>T
aGa/aTa
p.R652I
0.305
10
1
Missense Variant
Missense Variant
MODERATE
ENST00000373855.5
10
1
ENST00000373855.5
CREB3L1
chr11
46320733
46320733
T
G
c.1547T>G
aTc/aGc
p.I516S
0.5
12
8
Missense Variant
Missense Variant
MODERATE
ENST00000621158.5
Benign
0.006321900000
rs73464035
12
8
ENST00000621158.5
Benign
rs73464035
CREB3L2
chr7
137928167
137928170
CTGG
C
c.299_301del
aCCAgt/agt
p.T100del
0.975
49
49
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000330387.11
COSV57791862
rs3217268
49
49
ENST00000330387.11
COSV57791862
rs3217268
CTNNA2
chr2
80393245
80393245
T
C
c.1091T>C
aTt/aCt
p.I364T
0.531
7
4
Missense Variant
Missense Variant
MODERATE
ENST00000402739.8
Benign
COSV99057397
0.003652210000
rs61754542
7
4
ENST00000402739.8
Benign
COSV99057397
rs61754542
Total mutations showing: 92
F
P
1
2
3
4
5
6
7
N
E
Rows Per Page
10
15
25
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-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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