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
AKAP9chr79207772192077721CTc.6791C>TgCc/gTcp.A2264V0.134501Missense VariantMissense VariantMODERATEENST00000356239.8



501ENST00000356239.8
ALKchr22919378129193784GCTCGc.4303_4305delGAG/-p.E1435del0.346102In-frame DeletionIn-frame DeletionMODERATEENST00000389048.8


rs138827116
102ENST00000389048.8rs138827116
ARchrX6754531667545331TGCAGCAGCAGCAGCATc.225_239delctGCAGCAGCAGCAGCAg/ctgp.Q76_Q80del0.706481In-frame DeletionIn-frame DeletionMODERATEENST00000374690.9

COSV104424802

481ENST00000374690.9COSV104424802
ARID1Achr12677569726775697AGc.5114A>GaAc/aGcp.N1705S0.339192Missense VariantMissense VariantMODERATEENST00000324856.13
Benign
COSV104411707
0.006846420000rs61756316
192ENST00000324856.13BenignCOSV104411707rs61756316
ARID1Bchr6156778268156778268CCCAGc.609_611dup-/CAGp.Q214dup0.871372In-frame InsertionIn-frame InsertionMODERATEENST00000636930.2

COSV51651299

372ENST00000636930.2COSV51651299
BCL9chr1147619856147619859CATGCc.1704_1706delATG/-p.M568del0.315112In-frame DeletionIn-frame DeletionMODERATEENST00000234739.8


rs587603499
112ENST00000234739.8rs587603499
CASP9chr11549395315493953GTc.1097C>AaCc/aAcp.T366N0.215137Missense VariantMissense VariantMODERATEENST00000333868.10
Benign
COSV99049509
0.002324200000rs61738967
137ENST00000333868.10BenignCOSV99049509rs61738967
CDH11chr166499880564998805CTc.280G>AGgg/Aggp.G94R0.49361Missense VariantMissense VariantMODERATEENST00000268603.9

COSV51769306

61ENST00000268603.9COSV51769306
CHD2chr159294906392949063CGc.1489C>GCat/Gatp.H497D0.04951Missense VariantMissense VariantMODERATEENST00000394196.9



51ENST00000394196.9
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.9368584Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
8584ENST00000618327.4Benignrs7197779
CLTCL1chr221922629319226293GAc.1873C>TCaa/Taap.Q625*0.977191Nonsense MutationNonsense MutationHIGHENST00000427926.6


0.000038334100rs372403893
191ENST00000427926.6rs372403893
CNTRLchr9121125866121125866GTc.1955G>TaGa/aTap.R652I0.305101Missense VariantMissense VariantMODERATEENST00000373855.5



101ENST00000373855.5
CREB3L1chr114632073346320733TGc.1547T>GaTc/aGcp.I516S0.5128Missense VariantMissense VariantMODERATEENST00000621158.5
Benign

0.006321900000rs73464035
128ENST00000621158.5Benignrs73464035
CREB3L2chr7137928167137928170CTGGCc.299_301delaCCAgt/agtp.T100del0.9754949In-frame DeletionIn-frame DeletionMODERATEENST00000330387.11

COSV57791862
rs3217268
4949ENST00000330387.11COSV57791862rs3217268
CTNNA2chr28039324580393245TCc.1091T>CaTt/aCtp.I364T0.53174Missense VariantMissense VariantMODERATEENST00000402739.8
Benign
COSV99057397
0.003652210000rs61754542
74ENST00000402739.8BenignCOSV99057397rs61754542
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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