Model Details

Patient Information for Model: BCM-0046

Patient Information
Clinical Timeline

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

Model Information for Model: BCM-0046

Biomarkers & Mutations
Model Details
Mutations (Cancer Gene Census List)

The number of models in this collection with mutations in the listed gene
The number of models in this collection with mutations at the listed site
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
ACSL6chr5132011827132011827GA0.9994724Upstream Gene Variantupstream_gene_variantMODIFIERNM_001009185.2


rs4705908
4724NM_001009185.2rs4705908
ACSL6chr5132011827132011827GA0.9994724Intragenic Variantintragenic_variantMODIFIER


rs4705908
4724rs4705908
AFF1chr48713577387135773AG0.94680803' UTR variant3_prime_UTR_variantMODIFIERNM_001166693.2


rs342464
8080NM_001166693.2rs342464
AKAP9chr79194097691940976GC0.98968645' UTR variant5_prime_UTR_variantMODIFIERNM_005751.4


rs4727267
6864NM_005751.4rs4727267
AKT2chr194023381440233814GT0.67450473' UTR variant3_prime_UTR_variantMODIFIERNM_001626.5


rs2304186
5047NM_001626.5rs2304186
ALDH2chr12111789845111789845ATc.463A>TAag/Tagp.Lys155*0.80531Nonsense Mutationstop_gainedHIGHNM_000690.3



31NM_000690.3
ALKchr22919315929193163CCATTG0.9740333' UTR variant3_prime_UTR_variantMODIFIERNM_004304.4


rs397706189
4033NM_004304.4rs397706189
ARHGEF10Lchr11769750217697503GGC0.95877773' UTR variant3_prime_UTR_variantMODIFIERNM_018125.3


rs3835471
7777NM_018125.3rs3835471
ARNTchr1150806925150806925GA0.4423412Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001668.3


rs12746973
3412NM_001668.3rs12746973
ASPSCR1chr178202000982020009AC0.95491Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001251888.1


rs368242908
91NM_001251888.1rs368242908
ASXL1chr203235868332358683CG0.2144935' UTR variant5_prime_UTR_variantMODIFIERNM_015338.5


rs534633106
493NM_015338.5rs534633106
ASXL1chr203243742832437428TC0.8149433' UTR variant3_prime_UTR_variantMODIFIERNM_015338.5


rs2295763
4943NM_015338.5rs2295763
ATICchr2215311925215311925AG0.9987974Upstream Gene Variantupstream_gene_variantMODIFIERNM_004044.6


rs78631308
7974NM_004044.6rs78631308
ATICchr2215349769215349769TG1.079613' UTR variant3_prime_UTR_variantMODIFIERNM_004044.6

COSN19749524
rs10498036
7961NM_004044.6COSN19749524rs10498036
ATP1A1chr1116406090116406090GA0.54948Downstream Gene Variantdownstream_gene_variantMODIFIERNM_000701.7


rs850610
4948NM_000701.7rs850610
CNV


Histology Information for Model: BCM-0046

Patient

PDX

H&E

ER

PR

HER2


Metastasis Information for Model: BCM-0046
 
Patient
PDX
Abdomen
Anterosuperior mediastinum
Bone
Brain
CTC
Chest
Chest wall
Contralateral Breast
Fallopian tubes
Hip
Kidney
Leg bone
Liver
Lung
Lymph Node
Mediastinum
Neck
Other
Ovary
Pancreas
Paratracheal adenopathy
Pericardium
Peritoneal cavity
Peritoneum
Pleura
Pleural Cavitiy
Pleural effusion
Posterior cervical nodes
SVC node
Skin
Thymus

Patient Treatment Information for Model: BCM-0046

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
10Epirubicin, CyclophosphamideNeoadjuvant53.6253.8480 daysPartial ResponseNot ApplicableTreatment Completed
15DocetaxelNeoadjuvant53.8554.0262 daysStable DiseasePartial ResponseTreatment Completed
25Radiation Therapy (RT)Adjuvant54.2454.4162 daysNot ReportedNot Reported












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