Model Details

Patient Information for Model: BCM-0104

Patient Information
Clinical Timeline

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 Negative
 
 N/A

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

Model Information for Model: BCM-0104

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
ABI1chr102674228526742285AG0.7994034Downstream Gene Variantdownstream_gene_variantMODIFIERNM_005470.3


rs10764638
4034NM_005470.3rs10764638
ACSL6chr5132011827132011827GA0.9474724Upstream Gene Variantupstream_gene_variantMODIFIERNM_001009185.2


rs4705908
4724NM_001009185.2rs4705908
ACSL6chr5132011827132011827GA0.9474724Intragenic Variantintragenic_variantMODIFIER


rs4705908
4724rs4705908
AFF1chr48713577387135773AG0.93480803' UTR variant3_prime_UTR_variantMODIFIERNM_001166693.2


rs342464
8080NM_001166693.2rs342464
AFF3chr2100007213100007213CTc.497G>AaGt/aAtp.Ser166Asn0.671101Missense Variantmissense_variantMODERATENM_001025108.1


0.000004220760rs151087811
101NM_001025108.1rs151087811
AFF4chr5132873544132873544GA0.906211Downstream Gene Variantdownstream_gene_variantMODIFIERNM_014423.3


rs576657215
211NM_014423.3rs576657215
AKAP9chr79194097691940976GC0.9768645' UTR variant5_prime_UTR_variantMODIFIERNM_005751.4


rs4727267
6864NM_005751.4rs4727267
ARchrX6754531667545316TGCATc.237_239delGCAp.Gln80del0.638458In-frame Deletion (Disruptive)disruptive_inframe_deletionMODERATENM_000044.3


rs778920072
458NM_000044.3rs778920072
ARHGAP26chr5143214082143214082GAc.2350G>AGat/Aatp.Asp784Asn0.88931Missense Variantmissense_variantMODERATENM_015071.4


0.000005067700rs587778049
31NM_015071.4rs587778049
ARHGEF10Lchr11769750217697503GGC0.95877773' UTR variant3_prime_UTR_variantMODIFIERNM_018125.3


rs3835471
7777NM_018125.3rs3835471
ATICchr2215311925215311925AG0.9997974Upstream Gene Variantupstream_gene_variantMODIFIERNM_004044.6


rs78631308
7974NM_004044.6rs78631308
ATICchr2215312084215312084TG0.99879235' UTR variant5_prime_UTR_variantMODIFIERNM_004044.6


rs4535042
7923NM_004044.6rs4535042
ATRXchrX7768247177682471CGc.2785G>CGag/Cagp.Glu929Gln0.5635452Missense Variantmissense_variantMODERATENM_000489.4


rs3088074
5452NM_000489.4rs3088074
B2Mchr154471116644711166TG0.9994845Upstream Gene Variantupstream_gene_variantMODIFIERNM_004048.2

COSN15632065
rs2255235
4845NM_004048.2COSN15632065rs2255235
BAP1chr35239765552397655GA0.999228Downstream Gene Variantdownstream_gene_variantMODIFIERNM_004656.3


rs390802
228NM_004656.3rs390802
CNV


Histology Information for Model: BCM-0104

Patient

PDX

H&E

ER

PR

HER2


Metastasis Information for Model: BCM-0104
 
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-0104

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
15PaclitaxelNeoadjuvant58.2658.4673 daysPartial ResponseNot ApplicableOther
20PaclitaxelNeoadjuvant58.6758.711 daysProgressive DiseaseNo Response Disease Progression
30Radiation Therapy (RT)Recurrent/Metastatic59.2959.4247 daysNot ReportedNot ApplicableCompleted
45Radiation Therapy (RT)Recurrent/Metastatic59.9659.96UnknownNot ReportedNot ApplicableDisease Progression












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