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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: 59
F
P
1
2
3
4
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
99593875
99593880
CTGAGG
C
c.1856_1860del
aCCTCA/a
p.T619Sfs*72
0.426
12
2
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000409579.5
COSV57864141
rs199557232
12
2
ENST00000409579.5
COSV57864141
rs199557232
AFF3
chr2
99593872
99593873
CG
C
c.1863del
gcC/gc
p.D623Tfs*48
0.426
12
5
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000409579.5
COSV57841232
rs201754690
12
5
ENST00000409579.5
COSV57841232
rs201754690
AKAP9
chr7
92105709
92105709
G
C
c.11362G>C
Gtc/Ctc
p.V3788L
0.403
50
1
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Conflicting_interpretations_of_pathogenicity
0.000139277000
rs199527737
50
1
ENST00000356239.8
Conflicting_interpretations_of_pathogenicity
rs199527737
ANK1
chr8
41695291
41695291
G
A
c.3001C>T
Cgt/Tgt
p.R1001C
0.262
9
1
Missense Variant
Missense Variant
MODERATE
ENST00000289734.13
0.000008442020
rs148222043
9
1
ENST00000289734.13
rs148222043
AR
chrX
67545316
67545322
TGCAGCA
T
c.234_239del
ctGCAGCAg/ctg
p.Q79_Q80del
0.743
48
8
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000374690.9
COSV65952724
48
8
ENST00000374690.9
COSV65952724
ATM
chr11
108247071
108247071
C
T
c.1009C>T
Cgt/Tgt
p.R337C
0.4
10
1
Missense Variant
Missense Variant
MODERATE
ENST00000278616.8
Uncertain_significance
COSV53723836
0.000080277800
rs138398778
10
1
ENST00000278616.8
Uncertain_significance
COSV53723836
rs138398778
ATRX
chrX
77682471
77682471
C
G
c.2785G>C
Gag/Cag
p.E929Q
0.961
59
56
Missense Variant
Missense Variant
MODERATE
ENST00000373344.10
Benign
rs3088074
59
56
ENST00000373344.10
Benign
rs3088074
BRCA1
chr17
43091492
43091492
T
C
c.4039A>G
Aga/Gga
p.R1347G
0.588
19
1
Missense Variant
Missense Variant
MODERATE
ENST00000357654.9
Benign
COSV100524757
0.003703270000
rs28897689
19
1
ENST00000357654.9
Benign
COSV100524757
rs28897689
CBLB
chr3
105702216
105702216
C
A
c.1837G>T
Ggc/Tgc
p.G613C
0.321
7
1
Missense Variant
Missense Variant
MODERATE
ENST00000394030.8
0.000004224150
rs1476818648
7
1
ENST00000394030.8
rs1476818648
CDKN1A
chr6
36684194
36684194
C
A
c.93C>A
agC/agA
p.S31R
0.631
4
2
Missense Variant
Missense Variant
MODERATE
ENST00000244741.10
Benign
COSV55187247
0.156476000000
rs1801270
4
2
ENST00000244741.10
Benign
COSV55187247
rs1801270
CIC
chr19
42290854
42290854
C
T
c.2086C>T
Cgg/Tgg
p.R696W
0.481
11
1
Missense Variant
Missense Variant
MODERATE
ENST00000575354.6
COSV50547794
0.000030632200
rs550975604
11
1
ENST00000575354.6
COSV50547794
rs550975604
CIITA
chr16
10909070
10909070
A
G
c.2702A>G
cAg/cGg
p.Q901R
0.979
85
84
Missense Variant
Missense Variant
MODERATE
ENST00000618327.4
Benign
0.983235000000
rs7197779
85
84
ENST00000618327.4
Benign
rs7197779
COL2A1
chr12
47997874
47997874
T
A
c.426A>T
gaA/gaT
p.E142D
0.597
9
1
Missense Variant
Missense Variant
MODERATE
ENST00000380518.8
Benign
0.037236200000
rs34392760
9
1
ENST00000380518.8
Benign
rs34392760
CREB1
chr2
207560248
207560248
C
T
c.137C>T
gCa/gTa
p.A46V
0.407
1
1
Missense Variant
Missense Variant
MODERATE
ENST00000353267.8
0.000199305000
rs143117860
1
1
ENST00000353267.8
rs143117860
CSMD3
chr8
112573521
112573521
C
T
c.4022G>A
gGc/gAc
p.G1341D
0.137
24
1
Missense Variant
Missense Variant
MODERATE
ENST00000297405.10
24
1
ENST00000297405.10
Total mutations showing: 59
F
P
1
2
3
4
N
E
Rows Per Page
10
15
25
50
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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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