PDX INSIGHTS
PIONEERING CANCER RESEARCH
Model Details

Patient Information for Model: HCI-001

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)

GeneChrStartEndRefAltcDNA ChangeCodon ChangeProtein ChangeTVAF Gene Mutation Freq. Site Mutation Freq.Most Severe EffectAll EffectsMutation ImpactTranscript IDClinVar Clinical SignificanceCOSMIC IDgnomAD Non-Cancer AFdbSNP IDGene Mutation Freq.Site Mutation Freq.Transcript IDClinVar Clinical SignificanceCOSMIC IDdbSNP ID
A1CFchr105085993350859933GAc.8C>TtCa/tTap.S3L0.46541Missense VariantMissense VariantMODERATEENST00000373997.8



41ENST00000373997.8
ABL1chr9130884719130884719CTc.2429C>TcCg/cTgp.P810L0.47691Missense VariantMissense VariantMODERATEENST00000318560.6
Benign
COSV59335135
0.005338740000rs2229071
91ENST00000318560.6BenignCOSV59335135rs2229071
AFF3chr29959387299593873CGCc.1863delgcC/gcp.D623Tfs*480.353125Frameshift MutationFrameshift MutationHIGHENST00000409579.5

COSV57841232
rs201754690
125ENST00000409579.5COSV57841232rs201754690
ARchrX6754627367546273CTc.1127C>TcCc/cTcp.P376L0.314481Missense VariantMissense VariantMODERATEENST00000374690.9


0.000006391040rs571209658
481ENST00000374690.9rs571209658
ATRchr3142562511142562511CGc.891G>CaaG/aaCp.K297N0.389135Missense VariantMissense VariantMODERATEENST00000350721.9
Benign/Likely_benign
COSV63384505
0.009925770000rs2229033
135ENST00000350721.9Benign/Likely_benignCOSV63384505rs2229033
ATRXchrX7768247177682471CGc.2785G>CGag/Cagp.E929Q0.6265956Missense VariantMissense VariantMODERATEENST00000373344.10
Benign

rs3088074
5956ENST00000373344.10Benignrs3088074
BARD1chr2214767531214767532CATGc.1518_1519invcaTGtg/caCAtgp.V507M0.9723424Missense VariantMissense VariantMODERATEENST00000260947.9

COSV105837301
rs386654966
3424ENST00000260947.9COSV105837301rs386654966
BCL11Bchr149925765699257656CTc.242G>AtGt/tAtp.C81Y0.30971Missense VariantMissense VariantMODERATEENST00000357195.8



71ENST00000357195.8
BRAFchr7140734722140734722GCc.2176C>GCgc/Ggcp.R726G0.27851Missense VariantMissense VariantMODERATEENST00000496384.7



51ENST00000496384.7
BRCA2chr133233820032338202CTGCc.3847_3848delacTGta/actap.V1283Kfs*20.955211Frameshift MutationFrameshift MutationHIGHENST00000380152.7

COSV66451179
rs80359405
211ENST00000380152.7COSV66451179rs80359405
CBLBchr3105702134105702134CTc.1919G>AcGg/cAgp.R640Q0.50871Missense VariantMissense VariantMODERATEENST00000394030.8


0.000016904600rs746660756
71ENST00000394030.8rs746660756
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.9758584Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
8584ENST00000618327.4Benignrs7197779
CLIP1chr12122279123122279123CAc.3670G>TGca/Tcap.A1224S0.06642Missense VariantMissense VariantMODERATEENST00000620786.4
Likely_benign

0.005091810000rs17881033
42ENST00000620786.4Likely_benignrs17881033
COL1A1chr175019797850197978GCc.613C>GCct/Gctp.P205A0.048112Missense VariantMissense VariantMODERATEENST00000225964.10
Conflicting_interpretations_of_pathogenicity

0.003288860000rs72667032
112ENST00000225964.10Conflicting_interpretations_of_pathogenicityrs72667032
CREB3L2chr7137928167137928170CTGGCc.299_301delaCCAgt/agtp.T100del0.9734949In-frame DeletionIn-frame DeletionMODERATEENST00000330387.11

COSV57791862
rs3217268
4949ENST00000330387.11COSV57791862rs3217268
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 IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
10PaclitaxelNeoadjuvant39.6739.9188 daysProgressive diseaseNo Response
20Radiation TherapyAdjuvant40.0840.1629 daysProgressive diseaseNo Response
25Doxorubicin LiposomalAdjuvant40.1640.2533 daysStable DiseaseComplete ResponsePatient Responded
30AdriamycinAdjuvant40.3340.4129 daysProgressive diseaseNo ResponsePatient Died













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