PDX INSIGHTS
PIONEERING CANCER RESEARCH
Model Details

Patient Information for Model: BCM-0002

Model Contact
Model: BCM-0002
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-0002

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
AFF1chr48711524387115243CAc.2410C>ACac/Aacp.H804N0.044121Missense VariantMissense VariantMODERATEENST00000395146.8


.
121ENST00000395146.8.
AKAP9chr79200130692001306GTc.1389G>TatG/atTp.M463I0.38611573Missense VariantMissense VariantMODERATEENST00000356239.8
Benign
COSV62345589
0.376835000000rs6964587
11573ENST00000356239.8BenignCOSV62345589rs6964587
AKAP9chr79208559792085597CTc.8935C>TCct/Tctp.P2979S0.992115115Missense VariantMissense VariantMODERATEENST00000356239.8
Benign/Likely_benign
COSV104663065
0.996325000000rs1063242
115115ENST00000356239.8Benign/Likely_benignCOSV104663065rs1063242
AKAP9chr79207772192077721CTc.6791C>TgCc/gTcp.A2264V0.1161151Missense VariantMissense VariantMODERATEENST00000356239.8


.
1151ENST00000356239.8.
AKAP9chr79202286492022864AAAACc.4004_4006dupaaa/aAACaap.K1335_L1336insQ0.35811573In-frame InsertionIn-frame InsertionMODERATEENST00000356239.8

COSV62337888
rs10644111
11573ENST00000356239.8COSV62337888rs10644111
ALKchr22919378129193784GCTCGc.4303_4305delGAG/-p.E1435del0.3251152In-frame DeletionIn-frame DeletionMODERATEENST00000389048.8


rs138827116
1152ENST00000389048.8rs138827116
ALKchr22919370629193706TCc.4381A>GAtc/Gtcp.I1461V0.995115115Missense VariantMissense VariantMODERATEENST00000389048.8
Benign
COSV101201052
0.997594000000rs1670283
115115ENST00000389048.8BenignCOSV101201052rs1670283
ALKchr22919350029193500GCc.4587C>GgaC/gaGp.D1529E0.32111580Missense VariantMissense VariantMODERATEENST00000389048.8
Benign
COSV66569695
0.472160000000rs1881421
11580ENST00000389048.8BenignCOSV66569695rs1881421
AMER1chrX6419281064192810ACc.477T>GttT/ttGp.F159L0.9562316Missense VariantMissense VariantMODERATEENST00000374869.8
Benign
COSV57654201
0.041796500000rs34677493
2316ENST00000374869.8BenignCOSV57654201rs34677493
APCchr5112707798112707840CGGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCGCc.88_129delGGCGGCAGCAGGAGCTGCGTCCGGCAGGAGACGAAGAGCCCG/-p.S30_G43del0.3521001In-frame DeletionIn-frame DeletionMODERATEENST00000507379.5


.
1001ENST00000507379.5.
APCchr5112841059112841059TAc.5465T>AgTc/gAcp.V1822D0.979100100Missense VariantMissense VariantMODERATEENST00000257430.9
Benign
COSV57321643
0.794920000000rs459552
100100ENST00000257430.9BenignCOSV57321643rs459552
ARchrX6754531667545331TGCAGCAGCAGCAGCATc.225_239delctGCAGCAGCAGCAGCAg/ctgp.Q76_Q80del0.96610116In-frame DeletionIn-frame DeletionMODERATEENST00000374690.9

COSV104424802
.
10116ENST00000374690.9COSV104424802.
ARID1Achr12677569726775697AGc.5114A>GaAc/aGcp.N1705S0.34484Missense VariantMissense VariantMODERATEENST00000324856.13
Benign
COSV104411707
0.006846420000rs61756316
484ENST00000324856.13BenignCOSV104411707rs61756316
ARID1Bchr6156778268156778268CCCAGc.609_611dup-/CAGp.Q214dup0.978804In-frame InsertionIn-frame InsertionMODERATEENST00000636930.2

COSV51651299
.
804ENST00000636930.2COSV51651299.
ATRchr3142558717142558717AGc.1792T>CTgg/Cggp.W598R0.1881011Missense VariantMissense VariantMODERATEENST00000350721.9


.
1011ENST00000350721.9.
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-0002
Patient
PDX

Metastasis Information for Model: BCM-0002
 
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-0002

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
10Docetaxel,DoxorubicinNeoadjuvant43.6244.12183 daysPartial ResponsePartial ResponseTreatment Completed
15Radiation Therapy Adjuvant43.743.8762 daysNot ReportedNot ApplicableTreatment Completed
20Docetaxel,DoxorubicinAdjuvant43.9544.1262 daysNot ReportedNot ApplicableUnknown
25DocetaxelAdjuvant44.244.62153 daysNot ReportedNot ApplicableUnknown
30TamoxifenAdjuvant45.6250.451763 daysNot ReportedNot ApplicableTreatment Completed
35LetrozoleAdjuvant50.4852.7810 daysNot ReportedNot ApplicableDisease Progression
50Carboplatin,PaclitaxelMetastatic52.7754.13496 daysNot ReportedNot ApplicableUnknown
55CarboplatinMetastatic54.1854.97288 daysNot ReportedNot ApplicableUnknown
60AnastrozoleMetastatic55.6256.08168 daysDisease ProgressionNot ApplicableDisease Progression
70Radiation TherapyMetastatic56.056.137 daysNot ReportedNot ApplicableTreatment Completed
75CapecitabineMetastatic56.0857.0336 daysDisease ProgressionNot ApplicableDisease Progression
80GemcitabineMetastatic57.057.91332 daysDisease ProgressionNot ApplicableDisease Progression
90Radiation Therapy Metastatic57.1157.111Not ReportedNot ApplicableTreatment Completed













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