PDX INSIGHTS
PIONEERING CANCER RESEARCH
Model Details

Patient Information for Model: HCI-010

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)

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
ABL2chr1179108478179108478TCc.2789A>GaAa/aGap.K930R0.46173Missense VariantMissense VariantMODERATEENST00000502732.6
Benign
COSV99048946
0.008745050000rs17277288
73ENST00000502732.6BenignCOSV99048946rs17277288
AKAP9chr79202286492022864AAAACc.4004_4006dupaaa/aAACaap.K1335_L1336insQ0.4835035In-frame InsertionIn-frame InsertionMODERATEENST00000356239.8

COSV62337888
rs10644111
5035ENST00000356239.8COSV62337888rs10644111
ARchrX6754531667545316TTGCAc.237_239dupctg/ctGCAgp.Q80dup0.372483In-frame InsertionIn-frame InsertionMODERATEENST00000374690.9

COSV65952534

483ENST00000374690.9COSV65952534
ATRXchrX7768247177682471CGc.2785G>CGag/Cagp.E929Q0.9635956Missense VariantMissense VariantMODERATEENST00000373344.10
Benign

rs3088074
5956ENST00000373344.10Benignrs3088074
BARD1chr2214767531214767532CATGc.1518_1519invcaTGtg/caCAtgp.V507M0.9873424Missense VariantMissense VariantMODERATEENST00000260947.9

COSV105837301
rs386654966
3424ENST00000260947.9COSV105837301rs386654966
BRCA1chr174310421843104218AAGc.344dupcct/ccCtp.E116*0.939191Frameshift MutationFrameshift MutationHIGHENST00000357654.9



191ENST00000357654.9
BRCA1chr174310426243104262CAc.302-1G>T0.977191Splice Acceptor VariantSplice Acceptor VariantHIGHENST00000357654.9


rs80358116
191ENST00000357654.9rs80358116
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.9658584Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
8584ENST00000618327.4Benignrs7197779
CREB3L2chr7137928167137928170CTGGCc.299_301delaCCAgt/agtp.T100del0.54949In-frame DeletionIn-frame DeletionMODERATEENST00000330387.11

COSV57791862
rs3217268
4949ENST00000330387.11COSV57791862rs3217268
DCCchr185306616153066161AGc.1256A>GaAg/aGgp.K419R0.963151Missense VariantMissense VariantMODERATEENST00000442544.7
Conflicting_interpretations_of_pathogenicity
COSV105175169
0.002878470000rs144623089
151ENST00000442544.7Conflicting_interpretations_of_pathogenicityCOSV105175169rs144623089
DNM2chr191082915610829156CTc.2179C>TCat/Tatp.H727Y0.9762Missense VariantMissense VariantMODERATEENST00000389253.9
Conflicting_interpretations_of_pathogenicity

0.000274438000rs142963320
62ENST00000389253.9Conflicting_interpretations_of_pathogenicityrs142963320
ERCC2chr194535166145351661TGc.2251A>CAag/Cagp.K751Q0.4194846Missense VariantMissense VariantMODERATEENST00000391945.10
Benign/Likely_benign
COSV67266431
0.322955000000rs13181
4846ENST00000391945.10Benign/Likely_benignCOSV67266431rs13181
FAM135Bchr8138153029138153030TGCAc.1445_1446invcCA/cTGp.P482L0.9783529Missense VariantMissense VariantMODERATEENST00000395297.6


rs71505459
3529ENST00000395297.6rs71505459
FBLN2chr31363650913636509GCc.3279G>CcaG/caCp.Q1093H0.23861Missense VariantMissense VariantMODERATEENST00000404922.8



61ENST00000404922.8
FLT4chr5180618911180618911GAc.2860C>TCcc/Tccp.P954S0.976121Missense VariantMissense VariantMODERATEENST00000261937.11
Conflicting_interpretations_of_pathogenicity
COSV56128641
0.003490450000rs34255532
121ENST00000261937.11Conflicting_interpretations_of_pathogenicityCOSV56128641rs34255532
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 IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponseReason Stopped
10Radiation to the chest wall, supraclavicular nodes and axilla Neoadjuvant47.0847.1629 days
15Cyclophosphamide , Doxorubicin , PaclitaxelNeoadjuvant47.2547.3329 daysProgressive disease
20Liposomal DoxorubicinNeoadjuvant48.4148.533 daysProgressive disease
25Zolendronic Acid Neoadjuvant48.6148.7137 daysProgressive disease
30CapcitabineNeoadjuvant48.7548.9158 daysProgressive disease
35DoxetaxelNeoadjuvant48.8348.9129 daysProgressive diseasePatient Died













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