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PIONEERING CANCER RESEARCH
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Breast
HCI-009
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: HCI-009
Contact Model Developer
Model Contact
Model: HCI-009
Model Contact: Alana Welm
Institution: HCI Breast PDX Program
Email:
Alana.Welm@hci.utah.edu
Patient Information
Model
: HCI-009
Gender
: Female
Race/Ethnicity
: White
Vital Status
: Deceased
Initial Diagnosis
: Adenocarcinoma
Age at Diagnosis
: 42
Metastasis Sites
: Lymph Node, Bone, Pancreas, Peritoneum
Germline BRCA1 Status
: Not Reported
Germline BRCA2 Status
: Not Reported
Clinical Timeline
Color Keys:
Positive
Negative
N/A
Clinical Information at Collection
Collection Age
: 66.00
Collection Procedure
: Paracentesis
Clinical Event Point
: Metastasis
Clinical Biomarkers/Mutations at Collection
Germline BRCA1 Status
: Not Reported
Germline BRCA2 Status
: Not Reported
Pathology Information at Collection
Pathology Diagnosis
: Adenocarcinoma
Pathology Grade
: G3 (Poorly Differentiated)
pT
:
pN
:
pM
:
Model Information for Model: HCI-009
Model Details - Initial Implantation of Patient Tissue
Host Strain
: NOD/SCID and NSG
Transplant Specimen Condition
: Unknown
Transplant Material
:
Matrigel
: Suspension in matrigel
Transplant Supplements
:
Transplant Site
: Cleared Fat Pad
Humanization
: No
Mouse Sex
: Female
Tumor Doubling Time
: 4 months to 2cm
Specimen Site
: Ascites fluid
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: 87
F
P
1
2
3
4
5
6
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
ACVR2A
chr2
147896450
147896450
G
C
c.205G>C
Ggt/Cgt
p.G69R
0.224
2
1
Missense Variant
Missense Variant
MODERATE
ENST00000241416.12
2
1
ENST00000241416.12
AKAP9
chr7
92022864
92022864
A
AAAC
c.4004_4006dup
aaa/aAACaa
p.K1335_L1336insQ
0.546
50
35
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000356239.8
COSV62337888
rs10644111
50
35
ENST00000356239.8
COSV62337888
rs10644111
ASXL2
chr2
25768820
25768820
T
C
c.553A>G
Agc/Ggc
p.S185G
0.833
8
1
Missense Variant
Missense Variant
MODERATE
ENST00000435504.9
Benign
COSV55468898
0.001826880000
rs147191545
8
1
ENST00000435504.9
Benign
COSV55468898
rs147191545
ATR
chr3
142459302
142459302
C
T
c.7274G>A
cGa/cAa
p.R2425Q
0.099
13
1
Missense Variant
Missense Variant
MODERATE
ENST00000350721.9
Benign
COSV63383988
0.130080000000
rs2229032
13
1
ENST00000350721.9
Benign
COSV63383988
rs2229032
ATRX
chrX
77682471
77682471
C
G
c.2785G>C
Gag/Cag
p.E929Q
0.905
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
0.097
5
2
Splice Acceptor Variant
Splice Acceptor Variant; Coding Sequence Variant; Intronic Variant
HIGH
ENST00000460680.6
5
2
ENST00000460680.6
CDH1
chr16
68823627
68823627
G
C
c.2164+1G>C
0.762
7
1
Splice Donor Variant
Splice Donor Variant
HIGH
ENST00000261769.10
COSV105851736
rs1961238458
7
1
ENST00000261769.10
COSV105851736
rs1961238458
CHD2
chr15
92939634
92939634
A
G
c.608A>G
aAa/aGa
p.K203R
0.33
5
1
Missense Variant
Missense Variant
MODERATE
ENST00000394196.9
Benign/Likely_benign
COSV99046909
0.003267480000
rs117844037
5
1
ENST00000394196.9
Benign/Likely_benign
COSV99046909
rs117844037
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
0.063
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
CSF1R
chr5
150077401
150077401
T
A
c.764A>T
aAc/aTc
p.N255I
0.424
6
1
Missense Variant
Missense Variant
MODERATE
ENST00000286301.7
Benign/Likely_benign
COSV53838127
0.000692264000
rs146406037
6
1
ENST00000286301.7
Benign/Likely_benign
COSV53838127
rs146406037
CSMD3
chr8
112265538
112265538
A
T
c.9561T>A
gaT/gaA
p.D3187E
0.402
24
1
Missense Variant
Missense Variant
MODERATE
ENST00000297405.10
rs1222062601
24
1
ENST00000297405.10
rs1222062601
CTNND1
chr11
57796710
57796710
G
A
c.674G>A
aGt/aAt
p.S225N
0.27
4
1
Missense Variant
Missense Variant
MODERATE
ENST00000399050.10
4
1
ENST00000399050.10
DCC
chr18
52340854
52340854
T
C
c.67T>C
Ttc/Ctc
p.F23L
0.896
15
6
Missense Variant
Missense Variant
MODERATE
ENST00000442544.7
Benign
0.985567000000
rs9951523
15
6
ENST00000442544.7
Benign
rs9951523
ERBB3
chr12
56087836
56087836
T
A
c.655T>A
Ttt/Att
p.F219I
0.445
14
1
Missense Variant
Missense Variant
MODERATE
ENST00000267101.8
14
1
ENST00000267101.8
Total mutations showing: 87
F
P
1
2
3
4
5
6
N
E
Rows Per Page
10
15
25
50
Download
CNV
Histology Information for Model: HCI-009
There are no histology images for this model.
Metastasis Information for Model: HCI-009
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-009
Event Id
Treatment
Treatment Setting
Age at Start
Age at End
Duration
Clinical Response
Reason Stopped
10
Radiation Therapy
Neoadjuvant
42.08
42.16
29 days
15
Cyclophosphamide, Methotrexate, 5-Fluorouracil
Neoadjuvant
42.25
42.41
58 days
Progressive disease
20
Tamoxifen, Anastrozole
Neoadjuvant
44.08
65.08
7665 days
Progressive disease
25
Radiation Hip
Neoadjuvant
64.0
64.08
29 days
Progressive disease
30
Paclitaxel
Neoadjuvant
65.08
65.16
29 days
Progressive disease
35
Zolendronic Acid
Neoadjuvant
65.25
65.33
29 days
Progressive disease
40
Fulvestrant
Neoadjuvant
65.41
65.5
33 days
Progressive disease
45
Alternative Medicine
Neoadjuvant
65.67
65.91
88 days
Progressive disease
Patient Died
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.