PDX INSIGHTS
PIONEERING CANCER RESEARCH
Model Details

Patient Information for Model: BCM-0132

Model Contact
Model: BCM-0132
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-0132

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
AFF4chr5132897083132897103GTGTAGCTATTCCCAGTGCCCGc.1527_1546delcaGGGCACTGGGAATAGCTACAct/cactp.Q509Hfs*20.52371Frameshift MutationFrameshift MutationHIGHENST00000265343.10



71ENST00000265343.10
ARchrX6754651467546517TGGCTc.1418_1420delGGC/-p.G473del0.858483In-frame DeletionIn-frame DeletionMODERATEENST00000374690.9

COSV65958513

483ENST00000374690.9COSV65958513
ARID1Achr12669676126696761CTc.358C>TCcg/Tcgp.P120S0.952192Missense VariantMissense VariantMODERATEENST00000324856.13
Conflicting_interpretations_of_pathogenicity
COSV61373973
0.000271628000rs571264557
192ENST00000324856.13Conflicting_interpretations_of_pathogenicityCOSV61373973rs571264557
ARID1Bchr6157206530157206534CTGTTCc.5763_5766delcTGTTt/ctp.F1921Lfs*520.937371Frameshift MutationFrameshift MutationHIGHENST00000636930.2

COSV99269679
rs1554237269
371ENST00000636930.2COSV99269679rs1554237269
BIRC6chr23252977132529771CTc.12041C>TaCa/aTap.T4014I1.0151Missense VariantMissense VariantMODERATEENST00000421745.6


0.000038112000rs141336419
151ENST00000421745.6rs141336419
BRCA2chr133234057532340575CAc.6220C>ACac/Aacp.H2074N0.985212Missense VariantMissense VariantMODERATEENST00000380152.7
Benign

0.000727523000rs34309943
212ENST00000380152.7Benignrs34309943
BUB1Bchr154019665640196656GCc.1170G>CgaG/gaCp.E390D0.98553Missense VariantMissense VariantMODERATEENST00000287598.11
Benign
COSV55010791
0.008655650000rs1017842
53ENST00000287598.11BenignCOSV55010791rs1017842
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.3868584Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
8584ENST00000618327.4Benignrs7197779
CLTCL1chr221921997019219970CTc.2834G>AcGc/cAcp.R945H0.444193Missense VariantMissense VariantMODERATEENST00000427926.6
Benign
COSV99067208
0.003138280000rs36077768
193ENST00000427926.6BenignCOSV99067208rs36077768
COL1A1chr175018813450188134CTc.3223G>AGcc/Accp.A1075T0.996113Missense VariantMissense VariantMODERATEENST00000225964.10
Benign

rs1800215
113ENST00000225964.10Benignrs1800215
ELK4chr1205620109205620109CTc.937G>AGta/Atap.V313I0.48331Missense VariantMissense VariantMODERATEENST00000357992.9


0.000244833000rs34515238
31ENST00000357992.9rs34515238
EPHA3chr38921022489210224CGc.518C>GcCt/cGtp.P173R0.52851Missense VariantMissense VariantMODERATEENST00000336596.7



51ENST00000336596.7
ERCC5chr13102854340102854340GAc.433G>AGtt/Attp.V145I0.962141Missense VariantMissense VariantMODERATEENST00000652225.2
Benign/Likely_benign
COSV104673176
0.001582750000rs4987063
141ENST00000652225.2Benign/Likely_benignCOSV104673176rs4987063
ESR1chr6151808321151808321AGc.409A>GAgc/Ggcp.S137G0.976103Missense VariantMissense VariantMODERATEENST00000440973.5
Benign

0.000500829000rs185717042
103ENST00000440973.5Benignrs185717042
ETV5chr3186080022186080022GCc.445C>GCta/Gtap.L149V0.56241Missense VariantMissense VariantMODERATEENST00000306376.10
Benign

0.002721030000rs78506201
41ENST00000306376.10Benignrs78506201
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-0132
Patient
PDX

Metastasis Information for Model: BCM-0132
 
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-0132

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
20Cyclophosphamide,DoxorubicinNeoadjuvant58.9259.029 daysPartial ResponseNot ReportedTreatment Completed
25Carboplatin,PaclitaxelNeoadjuvant59.0959.3491 daysComplete ResponsePartial ResponseTreatment Completed
35DocetaxelAdjuvant59.4659.6362 daysNot ReportedNot ApplicableTreatment Completed
40Radiation TherapyAdjuvant59.7659.8429 daysNot ReportedNot ApplicableTreatment Completed
45CapecitabineAdjuvant59.9560.4164 daysStable DiseaseNot ApplicableTreatment Completed













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