PDX INSIGHTS
PIONEERING CANCER RESEARCH
Home
Collections
Bladder
Breast
Leukemia
Liver
Pancreas
Sarcoma
Omics Tools
Management
Data Management
File Management
Publications
Contact Us
Log In
You need to enable JavaScript to run this app page.
Breast
HCI-010
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: HCI-010
Contact Model Developer
Model Contact
Model: HCI-010
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-010
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: 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
ABL2
chr1
179108478
179108478
T
C
c.2789A>G
aAa/aGa
p.K930R
0.461
7
3
Missense Variant
Missense Variant
MODERATE
ENST00000502732.6
Benign
COSV99048946
0.008745050000
rs17277288
7
3
ENST00000502732.6
Benign
COSV99048946
rs17277288
AKAP9
chr7
92022864
92022864
A
AAAC
c.4004_4006dup
aaa/aAACaa
p.K1335_L1336insQ
0.483
50
35
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000356239.8
COSV62337888
rs10644111
50
35
ENST00000356239.8
COSV62337888
rs10644111
AR
chrX
67545316
67545316
T
TGCA
c.237_239dup
ctg/ctGCAg
p.Q80dup
0.372
48
3
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000374690.9
COSV65952534
48
3
ENST00000374690.9
COSV65952534
ATRX
chrX
77682471
77682471
C
G
c.2785G>C
Gag/Cag
p.E929Q
0.963
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
0.987
34
24
Missense Variant
Missense Variant
MODERATE
ENST00000260947.9
COSV105837301
rs386654966
34
24
ENST00000260947.9
COSV105837301
rs386654966
BRCA1
chr17
43104218
43104218
A
AG
c.344dup
cct/ccCt
p.E116*
0.939
19
1
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000357654.9
19
1
ENST00000357654.9
BRCA1
chr17
43104262
43104262
C
A
c.302-1G>T
0.977
19
1
Splice Acceptor Variant
Splice Acceptor Variant
HIGH
ENST00000357654.9
rs80358116
19
1
ENST00000357654.9
rs80358116
CIITA
chr16
10909070
10909070
A
G
c.2702A>G
cAg/cGg
p.Q901R
0.965
85
84
Missense Variant
Missense Variant
MODERATE
ENST00000618327.4
Benign
0.983235000000
rs7197779
85
84
ENST00000618327.4
Benign
rs7197779
CREB3L2
chr7
137928167
137928170
CTGG
C
c.299_301del
aCCAgt/agt
p.T100del
0.5
49
49
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000330387.11
COSV57791862
rs3217268
49
49
ENST00000330387.11
COSV57791862
rs3217268
DCC
chr18
53066161
53066161
A
G
c.1256A>G
aAg/aGg
p.K419R
0.963
15
1
Missense Variant
Missense Variant
MODERATE
ENST00000442544.7
Conflicting_interpretations_of_pathogenicity
COSV105175169
0.002878470000
rs144623089
15
1
ENST00000442544.7
Conflicting_interpretations_of_pathogenicity
COSV105175169
rs144623089
DNM2
chr19
10829156
10829156
C
T
c.2179C>T
Cat/Tat
p.H727Y
0.97
6
2
Missense Variant
Missense Variant
MODERATE
ENST00000389253.9
Conflicting_interpretations_of_pathogenicity
0.000274438000
rs142963320
6
2
ENST00000389253.9
Conflicting_interpretations_of_pathogenicity
rs142963320
ERCC2
chr19
45351661
45351661
T
G
c.2251A>C
Aag/Cag
p.K751Q
0.419
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
FAM135B
chr8
138153029
138153030
TG
CA
c.1445_1446inv
cCA/cTG
p.P482L
0.978
35
29
Missense Variant
Missense Variant
MODERATE
ENST00000395297.6
rs71505459
35
29
ENST00000395297.6
rs71505459
FBLN2
chr3
13636509
13636509
G
C
c.3279G>C
caG/caC
p.Q1093H
0.238
6
1
Missense Variant
Missense Variant
MODERATE
ENST00000404922.8
6
1
ENST00000404922.8
FLT4
chr5
180618911
180618911
G
A
c.2860C>T
Ccc/Tcc
p.P954S
0.976
12
1
Missense Variant
Missense Variant
MODERATE
ENST00000261937.11
Conflicting_interpretations_of_pathogenicity
COSV56128641
0.003490450000
rs34255532
12
1
ENST00000261937.11
Conflicting_interpretations_of_pathogenicity
COSV56128641
rs34255532
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-010
There are no histology images for this model.
Metastasis Information for Model: HCI-010
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-010
Event Id
Treatment
Treatment Setting
Age at Start
Age at End
Duration
Clinical Response
Reason Stopped
10
Radiation to the chest wall, supraclavicular nodes and axilla
Neoadjuvant
47.08
47.16
29 days
15
Cyclophosphamide , Doxorubicin , Paclitaxel
Neoadjuvant
47.25
47.33
29 days
Progressive disease
20
Liposomal Doxorubicin
Neoadjuvant
48.41
48.5
33 days
Progressive disease
25
Zolendronic Acid
Neoadjuvant
48.61
48.71
37 days
Progressive disease
30
Capcitabine
Neoadjuvant
48.75
48.91
58 days
Progressive disease
35
Doxetaxel
Neoadjuvant
48.83
48.91
29 days
Progressive disease
Patient Died
Please wait...