Model Details

Patient Information for Model: BCM-15034

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-15034

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
ABI1chr102674228526742285AG0.1964034Downstream Gene Variantdownstream_gene_variantMODIFIERNM_005470.3


rs10764638
4034NM_005470.3rs10764638
ACSL6chr5132011827132011827GA0.9154724Upstream Gene Variantupstream_gene_variantMODIFIERNM_001009185.2


rs4705908
4724NM_001009185.2rs4705908
ACSL6chr5132011827132011827GA0.9154724Intragenic Variantintragenic_variantMODIFIER


rs4705908
4724rs4705908
ACVR1chr2157737393157737393CT0.96422213' UTR variant3_prime_UTR_variantMODIFIERNM_001105.4


rs2228948
2221NM_001105.4rs2228948
AFF1chr48713577387135773AG0.97680803' UTR variant3_prime_UTR_variantMODIFIERNM_001166693.2


rs342464
8080NM_001166693.2rs342464
AFF4chr5132873472132873472ATCACA0.6542114Downstream Gene Variantdownstream_gene_variantMODIFIERNM_014423.3


rs142228782
2114NM_014423.3rs142228782
AKAP9chr79194097691940976GC0.96568645' UTR variant5_prime_UTR_variantMODIFIERNM_005751.4


rs4727267
6864NM_005751.4rs4727267
AKAP9chr79209732792097327TAGATc.10373_10375delGAAp.Arg3458del0.082683In-frame Deletion (Disruptive)disruptive_inframe_deletionMODERATENM_005751.4


0.000000000000rs757087367
683NM_005751.4rs757087367
AKT2chr194023381440233814GT0.37850473' UTR variant3_prime_UTR_variantMODIFIERNM_001626.5


rs2304186
5047NM_001626.5rs2304186
APOBEC3Bchr223898211638982116TG0.9592623Upstream Gene Variantupstream_gene_variantMODIFIERNM_004900.4


rs2267401
2623NM_004900.4rs2267401
ARchrX6754651467546517TTGGCc.1418_1420dupGCGp.Gly473dup0.622458In-frame Insertion (Disruptive)disruptive_inframe_insertionMODERATENM_000044.3


rs760580125
458NM_000044.3rs760580125
ARHGEF10Lchr11769750217697503GGC1.077773' UTR variant3_prime_UTR_variantMODIFIERNM_018125.3


rs3835471
7777NM_018125.3rs3835471
ARID1Achr12669684926696849GAc.446G>AgGc/gAcp.Gly149Asp0.126183Missense Variantmissense_variantMODERATENM_006015.4

COSM5347041

183NM_006015.4COSM5347041
ARID1Bchr6157201331157201331GTc.4737G>TaaG/aaTp.Lys1579Asn0.048161Missense Variantmissense_variantMODERATENM_020732.3



161NM_020732.3
ASXL1chr203243742832437428TC0.47449433' UTR variant3_prime_UTR_variantMODIFIERNM_015338.5


rs2295763
4943NM_015338.5rs2295763
CNV


Histology Information for Model: BCM-15034

Patient

PDX

ER

PR

HER2


Metastasis Information for Model: BCM-15034
 
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-15034

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
12[Letrozole]Adjuvant62.9963.0418 daysNot ReportedNot ApplicableSide Effects
16[Anastrozole, Palbociclib]Recurrent/Metastatic63.0463.58197 daysNot ReportedDisease Progression
22[Paclitaxel]Recurrent/Metastatic63.6664.12168 daysNot ReportedDisease Progression
32[Everolimus, Exemestane]Recurrent/Metastatic64.1564.3366 daysNot ReportedDisease Progression
36[Capecitabine]Recurrent/Metastatic64.3364.4233 daysNot ReportedDisease Progression
42[Eribulin]Recurrent/Metastatic64.4364.5958 daysNot ReportedDisease Progression
52[Trastuzumab, Pertuzumab, Docetaxel]Recurrent/Metastatic64.6665.07150 daysCurrent Treatment
54[Pertuzumab,Trastuzumab]Recurrent/Metastatic65.1965.54128 daysNot ReportedDisease Progression












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