PDX INSIGHTS
PIONEERING CANCER RESEARCH
Model Details

Patient Information for Model: BCM-PDAC-13

Model Contact
Model: BCM-PDAC-13
Model Contact: Qizhi Cathy Yao
Institution: BCM Pancreas PDX Program
Email: qizhiyao@bcm.edu

Patient Information
Clinical Timeline


Clinical Information at Collection
Clinical Biomarkers/Mutations at Collection
Pathology Information at Collection

Model Information for Model: BCM-PDAC-13

Model Details - Initial Implantation of Patient Tissue
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
AFF3chr29959365299593652GCc.2084C>GtCg/tGgp.S695W0.62284Missense VariantMissense VariantMODERATEENST00000409579.5


rs1436457705
84ENST00000409579.5rs1436457705
APCchr5112839514112839514TAc.3920T>AaTa/aAap.I1307K0.28662Missense VariantMissense VariantMODERATEENST00000257430.9
Conflicting_interpretations_of_pathogenicity&_association&_risk_factor
COSV57326270
0.002012480000rs1801155
62ENST00000257430.9Conflicting_interpretations_of_pathogenicity&_association&_risk_factorCOSV57326270rs1801155
ARchrX6754531667545316TTGCAGCAGCAGCAGCAc.225_239dupctg/ctGCAGCAGCAGCAGCAgp.Q76_Q80dup0.682172In-frame InsertionIn-frame InsertionMODERATEENST00000374690.9

COSV65959057

172ENST00000374690.9COSV65959057
ARchrX6754651467546514TTGGCGGCc.1415_1420dup-/GGCGGCp.G472_G473dup1.0172In-frame InsertionIn-frame InsertionMODERATEENST00000374690.9



172ENST00000374690.9
CDKN2Achr92197118721971187GAc.172C>TCga/Tgap.R58*0.9373Nonsense MutationNonsense MutationHIGHENST00000498124.1
Pathogenic
COSV58682666
rs121913387
73ENST00000498124.1PathogenicCOSV58682666rs121913387
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.9872424Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
2424ENST00000618327.4Benignrs7197779
ECT2Lchr6138814569138814569GAc.145G>AGca/Acap.A49T0.94864Missense VariantMissense VariantMODERATEENST00000541398.6
not_provided

0.002009010000rs146769748
64ENST00000541398.6not_providedrs146769748
ECT2Lchr6138876472138876472GAc.1579G>AGaa/Aaap.E527K0.09162Missense VariantMissense Variant; Splice Region VariantMODERATEENST00000541398.6
not_provided
COSV100871781
0.277428000000rs1529151
62ENST00000541398.6not_providedCOSV100871781rs1529151
ECT2Lchr6138876471138876471GCc.1579-1G>C0.89363Splice Acceptor VariantSplice Acceptor VariantHIGHENST00000541398.6


rs79069095
63ENST00000541398.6rs79069095
ECT2Lchr6138865022138865022TGc.1318T>GTgg/Gggp.W440G0.96862Missense VariantMissense VariantMODERATEENST00000541398.6
not_provided
COSV62884305
0.005286380000rs79294486
62ENST00000541398.6not_providedCOSV62884305rs79294486
EP300chr224115015441150154CAc.2773C>ACct/Actp.P925T0.96782Missense VariantMissense VariantMODERATEENST00000263253.9
Benign/Likely_benign
COSV54339374
0.003854000000rs148884710
82ENST00000263253.9Benign/Likely_benignCOSV54339374rs148884710
EZH2chr7148828812148828812CGc.553G>CGac/Cacp.D185H0.612119Missense VariantMissense VariantMODERATEENST00000320356.7
Benign
COSV57449162
0.078149200000rs2302427
119ENST00000320356.7BenignCOSV57449162rs2302427
FAT1chr4186708945186708945CTc.883G>AGtg/Atgp.V295M0.91474Missense VariantMissense VariantMODERATEENST00000441802.7
Likely_benign
COSV101499285
0.003552810000rs61733573
74ENST00000441802.7Likely_benignCOSV101499285rs61733573
FAT4chr4125451587125451587GAc.10571G>AgGc/gAcp.G3524D0.92631Missense VariantMissense VariantMODERATEENST00000674496.1
Benign
COSV58676353
0.271591000000rs1567047
31ENST00000674496.1BenignCOSV58676353rs1567047
FGFR4chr5177089630177089630GAc.28G>AGtc/Atcp.V10I0.72392Missense VariantMissense VariantMODERATEENST00000292408.9
Benign
COSV52803790
0.247684000000rs1966265
92ENST00000292408.9BenignCOSV52803790rs1966265
CNV


Histology Information for Model: BCM-PDAC-13
There are no histology images for this model.













Metastasis Information for Model: BCM-PDAC-13
 
Patient
PDX
Liver
Local recurrence
Lung
Rectum
lymph node

Patient Treatment Information for Model: BCM-PDAC-13

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
5Gemcitabine/AbraxaneNeoadjuvant64.965.0969 daysStable Disease (SD); CA 19-9 dropped from 504-184No Response (NR)Treatment Completed
15Gemcitabine/AbraxaneAdjuvant65.4665.487 daysPoor performance status













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