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PIONEERING CANCER RESEARCH
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Breast
HCI-002
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: HCI-002
Contact Model Developer
Model Contact
Model: HCI-002
Model Contact: Alana Welm
Institution: HCI Breast PDX Program
Email:
Alana.Welm@hci.utah.edu
Patient Information
Model
: HCI-002
Gender
: Female
Race/Ethnicity
: White
Vital Status
: Deceased
Initial Diagnosis
: Infiltrating ductal carcinoma
Age at Diagnosis
: 61
Metastasis Sites
: Lymph Node
Germline BRCA1 Status
: Not Reported
Germline BRCA2 Status
: Not Reported
Clinical Timeline
Color Keys:
Positive
Negative
N/A
Clinical Information at Collection
Collection Age
: 61.00
Collection Procedure
: Surgical Excision
Clinical Event Point
: Primary
Clinical Biomarkers/Mutations at Collection
Germline BRCA1 Status
: Not Reported
Germline BRCA2 Status
: Not Reported
Pathology Information at Collection
Pathology Diagnosis
: Infiltrating ductal carcinoma
Pathology Grade
: G3 (Poorly Differentiated)
pT
:
pN
:
pM
:
Model Information for Model: HCI-002
Model Details - Initial Implantation of Patient Tissue
Host Strain
: NOD/SCID and NSG
Transplant Specimen Condition
: Unknown
Transplant Material
: Tissue Fragement
Matrigel
:
Transplant Supplements
: None
Transplant Site
: Cleared Fat Pad
Humanization
: No
Mouse Sex
: Female
Tumor Doubling Time
: 1 month to 1cm
Specimen Site
: Breast
Biomarkers & Mutations
ER Status
: Negative
PR Status
: Negative
HER2 Status
: Negative
BRCA1 Status
: Not Reported
BRCA2 Status
: Not Reported
Model Details - Acceptable Conditions for Passaging
Permissive Host Strains
:
Transplant Specimen Condition
:
Transplant Material
:
Matrigel
:
Transplant Supplements
:
Transplant Site
:
Humanization
:
Mouse Sex
:
Mutations (Cancer Gene Census List)
Show/Hide Columns
Total mutations showing: 49
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
AR
chrX
67546514
67546526
TGGCGGCGGCGGC
T
c.1409_1420del
GGCGGCGGCGGC/-
p.G470_G473del
0.594
48
2
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000374690.9
COSV65964523
48
2
ENST00000374690.9
COSV65964523
AR
chrX
67545316
67545319
TGCA
T
c.237_239del
ctGCAg/ctg
p.Q80del
0.495
48
9
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000374690.9
COSV65954886
48
9
ENST00000374690.9
COSV65954886
ATRX
chrX
77682471
77682471
C
G
c.2785G>C
Gag/Cag
p.E929Q
0.555
59
56
Missense Variant
Missense Variant
MODERATE
ENST00000373344.10
Benign
rs3088074
59
56
ENST00000373344.10
Benign
rs3088074
BAP1
chr3
52402857
52402877
CAGTGCCAGCAGCTCCTGCCA
C
c.1891-6_1904del
0.953
5
2
Splice Acceptor Variant
Splice Acceptor Variant; Coding Sequence Variant; Intronic Variant
HIGH
ENST00000460680.6
5
2
ENST00000460680.6
BCORL1
chrX
130021133
130021133
C
G
c.3590C>G
gCc/gGc
p.A1197G
0.102
11
1
Missense Variant
Missense Variant
MODERATE
ENST00000540052.5
11
1
ENST00000540052.5
CIITA
chr16
10909070
10909070
A
G
c.2702A>G
cAg/cGg
p.Q901R
0.977
85
84
Missense Variant
Missense Variant
MODERATE
ENST00000618327.4
Benign
0.983235000000
rs7197779
85
84
ENST00000618327.4
Benign
rs7197779
CNTNAP2
chr7
147132381
147132381
A
G
c.1220A>G
aAt/aGt
p.N407S
0.305
10
2
Missense Variant
Missense Variant
MODERATE
ENST00000361727.8
Conflicting_interpretations_of_pathogenicity
0.000921550000
rs143877693
10
2
ENST00000361727.8
Conflicting_interpretations_of_pathogenicity
rs143877693
ERCC2
chr19
45351661
45351661
T
G
c.2251A>C
Aag/Cag
p.K751Q
0.412
48
46
Missense Variant
Missense Variant
MODERATE
ENST00000391945.10
Benign/Likely_benign
COSV67266431
0.322955000000
rs13181
48
46
ENST00000391945.10
Benign/Likely_benign
COSV67266431
rs13181
ESR1
chr6
151808264
151808264
T
C
c.352T>C
Tcg/Ccg
p.S118P
0.5
10
2
Missense Variant
Missense Variant
MODERATE
ENST00000440973.5
Benign
0.004406840000
rs200075329
10
2
ENST00000440973.5
Benign
rs200075329
ETNK1
chr12
22684951
22684951
G
T
c.1089G>T
gaG/gaT
p.E363D
0.308
3
2
Missense Variant
Missense Variant
MODERATE
ENST00000266517.9
0.000102593000
rs142528168
3
2
ENST00000266517.9
rs142528168
EWSR1
chr22
29297925
29297925
G
A
c.1408G>A
Ggc/Agc
p.G470S
0.978
5
4
Missense Variant
Missense Variant
MODERATE
ENST00000414183.6
Uncertain_significance
COSV58428629
0.007975060000
rs41311143
5
4
ENST00000414183.6
Uncertain_significance
COSV58428629
rs41311143
GATA2
chr3
128486108
128486108
C
T
c.490G>A
Gcc/Acc
p.A164T
0.517
13
9
Missense Variant
Missense Variant
MODERATE
ENST00000341105.7
Benign
COSV62003051
0.199868000000
rs2335052
13
9
ENST00000341105.7
Benign
COSV62003051
rs2335052
HLA-A
chr6
29944503
29944504
TG
CA
c.899_900inv
cTG/cCA
p.L300P
0.27
24
11
Missense Variant
Missense Variant
MODERATE
ENST00000376809.10
rs35946537
24
11
ENST00000376809.10
rs35946537
IRS4
chrX
108735112
108735113
TC
AT
c.1232_1233delinsAT
cGA/cAT
p.R411H
0.488
13
3
Missense Variant
Missense Variant
MODERATE
ENST00000372129.3
rs375938401
13
3
ENST00000372129.3
rs375938401
KEAP1
chr19
10486666
10486669
TCTG
T
c.1858_1860del
CAG/-
p.Q620del
0.514
2
2
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000171111.10
COSV104383915
rs559787043
2
2
ENST00000171111.10
COSV104383915
rs559787043
Total mutations showing: 49
F
P
1
2
3
4
N
E
Rows Per Page
10
15
25
50
Download
CNV
Histology Information for Model: HCI-002
There are no histology images for this model.
Metastasis Information for Model: HCI-002
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: HCI-002
Event Id
Treatment
Treatment Setting
Age at Start
Age at End
Duration
10
Radiation Therapy
Adjuvant
61.08
61.16
29 days
15
Zometa
Adjuvant
61.67
61.75
29 days
Please wait...
Gene
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
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.