PDX INSIGHTS
PIONEERING CANCER RESEARCH
Model Details

Patient Information for Model: HCI-009

Model Contact
Model: HCI-009
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-009

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
ACVR2Achr2147896450147896450GCc.205G>CGgt/Cgtp.G69R0.22421Missense VariantMissense VariantMODERATEENST00000241416.12



21ENST00000241416.12
AKAP9chr79202286492022864AAAACc.4004_4006dupaaa/aAACaap.K1335_L1336insQ0.5465035In-frame InsertionIn-frame InsertionMODERATEENST00000356239.8

COSV62337888
rs10644111
5035ENST00000356239.8COSV62337888rs10644111
ASXL2chr22576882025768820TCc.553A>GAgc/Ggcp.S185G0.83381Missense VariantMissense VariantMODERATEENST00000435504.9
Benign
COSV55468898
0.001826880000rs147191545
81ENST00000435504.9BenignCOSV55468898rs147191545
ATRchr3142459302142459302CTc.7274G>AcGa/cAap.R2425Q0.099131Missense VariantMissense VariantMODERATEENST00000350721.9
Benign
COSV63383988
0.130080000000rs2229032
131ENST00000350721.9BenignCOSV63383988rs2229032
ATRXchrX7768247177682471CGc.2785G>CGag/Cagp.E929Q0.9055956Missense VariantMissense VariantMODERATEENST00000373344.10
Benign

rs3088074
5956ENST00000373344.10Benignrs3088074
BAP1chr35240285752402877CAGTGCCAGCAGCTCCTGCCACc.1891-6_1904del0.09752Splice Acceptor VariantSplice Acceptor Variant; Coding Sequence Variant; Intronic VariantHIGHENST00000460680.6



52ENST00000460680.6
CDH1chr166882362768823627GCc.2164+1G>C0.76271Splice Donor VariantSplice Donor VariantHIGHENST00000261769.10

COSV105851736
rs1961238458
71ENST00000261769.10COSV105851736rs1961238458
CHD2chr159293963492939634AGc.608A>GaAa/aGap.K203R0.3351Missense VariantMissense VariantMODERATEENST00000394196.9
Benign/Likely_benign
COSV99046909
0.003267480000rs117844037
51ENST00000394196.9Benign/Likely_benignCOSV99046909rs117844037
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.9778584Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
8584ENST00000618327.4Benignrs7197779
CNTNAP2chr7147132381147132381AGc.1220A>GaAt/aGtp.N407S0.063102Missense VariantMissense VariantMODERATEENST00000361727.8
Conflicting_interpretations_of_pathogenicity

0.000921550000rs143877693
102ENST00000361727.8Conflicting_interpretations_of_pathogenicityrs143877693
CSF1Rchr5150077401150077401TAc.764A>TaAc/aTcp.N255I0.42461Missense VariantMissense VariantMODERATEENST00000286301.7
Benign/Likely_benign
COSV53838127
0.000692264000rs146406037
61ENST00000286301.7Benign/Likely_benignCOSV53838127rs146406037
CSMD3chr8112265538112265538ATc.9561T>AgaT/gaAp.D3187E0.402241Missense VariantMissense VariantMODERATEENST00000297405.10


rs1222062601
241ENST00000297405.10rs1222062601
CTNND1chr115779671057796710GAc.674G>AaGt/aAtp.S225N0.2741Missense VariantMissense VariantMODERATEENST00000399050.10



41ENST00000399050.10
DCCchr185234085452340854TCc.67T>CTtc/Ctcp.F23L0.896156Missense VariantMissense VariantMODERATEENST00000442544.7
Benign

0.985567000000rs9951523
156ENST00000442544.7Benignrs9951523
ERBB3chr125608783656087836TAc.655T>ATtt/Attp.F219I0.445141Missense VariantMissense VariantMODERATEENST00000267101.8



141ENST00000267101.8
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 IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponseReason Stopped
10Radiation TherapyNeoadjuvant42.0842.1629 days
15Cyclophosphamide, Methotrexate, 5-Fluorouracil Neoadjuvant42.2542.4158 daysProgressive disease
20Tamoxifen, AnastrozoleNeoadjuvant44.0865.087665 daysProgressive disease
25Radiation Hip Neoadjuvant64.064.0829 daysProgressive disease
30PaclitaxelNeoadjuvant65.0865.1629 daysProgressive disease
35Zolendronic Acid Neoadjuvant65.2565.3329 daysProgressive disease
40Fulvestrant Neoadjuvant65.4165.533 daysProgressive disease
45Alternative MedicineNeoadjuvant65.6765.9188 daysProgressive diseasePatient Died













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