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PIONEERING CANCER RESEARCH
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Breast
HCI-001
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: HCI-001
Contact Model Developer
Model Contact
Model: HCI-001
Model Contact: Alana Welm
Institution: HCI Breast PDX Program
Email:
Alana.Welm@hci.utah.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: HCI-001
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: 58
F
P
1
2
3
4
N
E
Rows Per Page
10
15
25
50
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Gene
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Chr
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Start
End
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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
A1CF
chr10
50859933
50859933
G
A
c.8C>T
tCa/tTa
p.S3L
0.465
4
1
Missense Variant
Missense Variant
MODERATE
ENST00000373997.8
4
1
ENST00000373997.8
ABL1
chr9
130884719
130884719
C
T
c.2429C>T
cCg/cTg
p.P810L
0.476
9
1
Missense Variant
Missense Variant
MODERATE
ENST00000318560.6
Benign
COSV59335135
0.005338740000
rs2229071
9
1
ENST00000318560.6
Benign
COSV59335135
rs2229071
AFF3
chr2
99593872
99593873
CG
C
c.1863del
gcC/gc
p.D623Tfs*48
0.353
12
5
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000409579.5
COSV57841232
rs201754690
12
5
ENST00000409579.5
COSV57841232
rs201754690
AR
chrX
67546273
67546273
C
T
c.1127C>T
cCc/cTc
p.P376L
0.314
48
1
Missense Variant
Missense Variant
MODERATE
ENST00000374690.9
0.000006391040
rs571209658
48
1
ENST00000374690.9
rs571209658
ATR
chr3
142562511
142562511
C
G
c.891G>C
aaG/aaC
p.K297N
0.389
13
5
Missense Variant
Missense Variant
MODERATE
ENST00000350721.9
Benign/Likely_benign
COSV63384505
0.009925770000
rs2229033
13
5
ENST00000350721.9
Benign/Likely_benign
COSV63384505
rs2229033
ATRX
chrX
77682471
77682471
C
G
c.2785G>C
Gag/Cag
p.E929Q
0.626
59
56
Missense Variant
Missense Variant
MODERATE
ENST00000373344.10
Benign
rs3088074
59
56
ENST00000373344.10
Benign
rs3088074
BARD1
chr2
214767531
214767532
CA
TG
c.1518_1519inv
caTGtg/caCAtg
p.V507M
0.972
34
24
Missense Variant
Missense Variant
MODERATE
ENST00000260947.9
COSV105837301
rs386654966
34
24
ENST00000260947.9
COSV105837301
rs386654966
BCL11B
chr14
99257656
99257656
C
T
c.242G>A
tGt/tAt
p.C81Y
0.309
7
1
Missense Variant
Missense Variant
MODERATE
ENST00000357195.8
7
1
ENST00000357195.8
BRAF
chr7
140734722
140734722
G
C
c.2176C>G
Cgc/Ggc
p.R726G
0.278
5
1
Missense Variant
Missense Variant
MODERATE
ENST00000496384.7
5
1
ENST00000496384.7
BRCA2
chr13
32338200
32338202
CTG
C
c.3847_3848del
acTGta/acta
p.V1283Kfs*2
0.955
21
1
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000380152.7
COSV66451179
rs80359405
21
1
ENST00000380152.7
COSV66451179
rs80359405
CBLB
chr3
105702134
105702134
C
T
c.1919G>A
cGg/cAg
p.R640Q
0.508
7
1
Missense Variant
Missense Variant
MODERATE
ENST00000394030.8
0.000016904600
rs746660756
7
1
ENST00000394030.8
rs746660756
CIITA
chr16
10909070
10909070
A
G
c.2702A>G
cAg/cGg
p.Q901R
0.975
85
84
Missense Variant
Missense Variant
MODERATE
ENST00000618327.4
Benign
0.983235000000
rs7197779
85
84
ENST00000618327.4
Benign
rs7197779
CLIP1
chr12
122279123
122279123
C
A
c.3670G>T
Gca/Tca
p.A1224S
0.066
4
2
Missense Variant
Missense Variant
MODERATE
ENST00000620786.4
Likely_benign
0.005091810000
rs17881033
4
2
ENST00000620786.4
Likely_benign
rs17881033
COL1A1
chr17
50197978
50197978
G
C
c.613C>G
Cct/Gct
p.P205A
0.048
11
2
Missense Variant
Missense Variant
MODERATE
ENST00000225964.10
Conflicting_interpretations_of_pathogenicity
0.003288860000
rs72667032
11
2
ENST00000225964.10
Conflicting_interpretations_of_pathogenicity
rs72667032
CREB3L2
chr7
137928167
137928170
CTGG
C
c.299_301del
aCCAgt/agt
p.T100del
0.973
49
49
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000330387.11
COSV57791862
rs3217268
49
49
ENST00000330387.11
COSV57791862
rs3217268
Total mutations showing: 58
F
P
1
2
3
4
N
E
Rows Per Page
10
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CNV
Histology Information for Model: HCI-001
There are no histology images for this model.
Metastasis Information for Model: HCI-001
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-001
Event Id
Treatment
Treatment Setting
Age at Start
Age at End
Duration
Clinical Response
Pathologic Response
Reason Stopped
10
Paclitaxel
Neoadjuvant
39.67
39.91
88 days
Progressive disease
No Response
20
Radiation Therapy
Adjuvant
40.08
40.16
29 days
Progressive disease
No Response
25
Doxorubicin Liposomal
Adjuvant
40.16
40.25
33 days
Stable Disease
Complete Response
Patient Responded
30
Adriamycin
Adjuvant
40.33
40.41
29 days
Progressive disease
No Response
Patient Died
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