PDX INSIGHTS
PIONEERING CANCER RESEARCH
Model Details

Patient Information for Model: BCM-0113

Model Contact
Model: BCM-0113
Model Contact: Michael Lewis
Institution: BCM Breast PDX Program
Email: mtlewis@bcm.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: BCM-0113

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
AFF3chr29959387299593873CGCc.1863delgcC/gcp.D623Tfs*480.429566Frameshift MutationFrameshift MutationHIGHENST00000409579.5

COSV57841232
rs201754690
566ENST00000409579.5COSV57841232rs201754690
AFF3chr29959387599593880CTGAGGCc.1856_1860delaCCTCA/ap.T619Sfs*720.429566Frameshift MutationFrameshift MutationHIGHENST00000409579.5

COSV57864141
rs199557232
566ENST00000409579.5COSV57864141rs199557232
AKAP9chr79200130692001306GTc.1389G>TatG/atTp.M463I0.36711573Missense VariantMissense VariantMODERATEENST00000356239.8
Benign
COSV62345589
0.376835000000rs6964587
11573ENST00000356239.8BenignCOSV62345589rs6964587
AKAP9chr79210570992105709GCc.11362G>CGtc/Ctcp.V3788L0.4081151Missense VariantMissense VariantMODERATEENST00000356239.8
Conflicting_interpretations_of_pathogenicity

0.000139277000rs199527737
1151ENST00000356239.8Conflicting_interpretations_of_pathogenicityrs199527737
AKAP9chr79208559792085597CTc.8935C>TCct/Tctp.P2979S0.952115115Missense VariantMissense VariantMODERATEENST00000356239.8
Benign/Likely_benign
COSV104663065
0.996325000000rs1063242
115115ENST00000356239.8Benign/Likely_benignCOSV104663065rs1063242
AKAP9chr79208338492083384AGc.8375A>GaAt/aGtp.N2792S0.55611562Missense VariantMissense VariantMODERATEENST00000356239.8
Benign/Likely_benign
COSV62339152
0.357813000000rs6960867
11562ENST00000356239.8Benign/Likely_benignCOSV62339152rs6960867
AKAP9chr79202286492022864AAAACc.4004_4006dupaaa/aAACaap.K1335_L1336insQ0.66711573In-frame InsertionIn-frame InsertionMODERATEENST00000356239.8

COSV62337888
rs10644111
11573ENST00000356239.8COSV62337888rs10644111
ALKchr22919370629193706TCc.4381A>GAtc/Gtcp.I1461V0.992115115Missense VariantMissense VariantMODERATEENST00000389048.8
Benign
COSV101201052
0.997594000000rs1670283
115115ENST00000389048.8BenignCOSV101201052rs1670283
ANK1chr84169529141695291GAc.3001C>TCgt/Tgtp.R1001C0.227371Missense VariantMissense VariantMODERATEENST00000289734.13


0.000008442020rs148222043
371ENST00000289734.13rs148222043
ARchrX6754531667545322TGCAGCATc.234_239delctGCAGCAg/ctgp.Q79_Q80del0.93510124In-frame DeletionIn-frame DeletionMODERATEENST00000374690.9

COSV65952724
.
10124ENST00000374690.9COSV65952724.
ARHGEF10Lchr11769718117697181CTc.3641C>TgCc/gTcp.A1214V0.025141Missense VariantMissense VariantMODERATEENST00000361221.8


.
141ENST00000361221.8.
ARID2chr124585044345850443CTc.2320C>TCca/Tcap.P774S0.073201Missense VariantMissense VariantMODERATEENST00000334344.11


.
201ENST00000334344.11.
ATMchr11108247071108247071CTc.1009C>TCgt/Tgtp.R337C0.407511Missense VariantMissense VariantMODERATEENST00000278616.8
Uncertain_significance
COSV53723836
0.000080277800rs138398778
511ENST00000278616.8Uncertain_significanceCOSV53723836rs138398778
ATMchr11108292644108292644TTAACGc.4462_4463insAACGtta/tAACGtap.L1488*0.032511Frameshift MutationFrameshift Mutation; Nonsense MutationHIGHENST00000278616.8


.
511ENST00000278616.8.
ATRchr3142562770142562770AGc.632T>CaTg/aCgp.M211T0.31210191Missense VariantMissense VariantMODERATEENST00000350721.9
Benign/Likely_benign
COSV63383325
0.545488000000rs2227928
10191ENST00000350721.9Benign/Likely_benignCOSV63383325rs2227928
CNV

PDX Validation
In order to validate the identity of Baylor College of Medicine patient-derived xenograft (PDX) models, short tandem repeat (STR) testing is performed at the Cytogenetics and Cell Authentication core facility at MDACC. STR testing is performed on tissue from the initial tumor grown in the mouse (transplant generation 1 - TG1) and from a patient sample when possible. Thereafter, STR testing is performed every five transplant generations (TG5, TG10, TG15, and TG20). In the case that a PDX model is transplanted from viably frozen tissue to restart the model, the PDX Core will test the first outgrowth to confirm identity and every five transplant generations thereafter. In addition to STR, we assess clinical biomarkers and histology every 5th transplant generation. Finally, RNAseq gene expression profiles are evaluated periodically to ensure consistency with previous results and to evaluate phenotypic drift. If a significant change in PDX biology is noted, we identify the last known stable stock and re-start the model.

Histology Information for Model: BCM-0113
Patient
PDX

Metastasis Information for Model: BCM-0113
 
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: BCM-0113

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
10DoxorubicinNeoadjuvant63.4663.5429 daysNot ReportedNot ReportedUnknown
15Cyclophosphamide,DoxorubicinNeoadjuvant63.6263.7962 daysNot ReportedNot ReportedTreatment Completed
20DocetaxelNeoadjuvant63.8563.851Not ReportedNot ReportedSide Effects
25PaclitaxelNeoadjuvant63.9163.9929 daysNot ReportedNot ReportedSide Effects
35CarboplatinAdjuvant64.1664.3466 daysNot ReportedNot ApplicableTreatment Completed
50Capecitabine,IxabepiloneMetastatic64.4964.6869 daysNot ReportedNot ApplicableUnknown













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