Model Details

Patient Information for Model: BCM-15008

Patient Information
Clinical Timeline

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

Model Information for Model: BCM-15008

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
ABI1chr102674228526742285AG0.8924034Downstream Gene Variantdownstream_gene_variantMODIFIERNM_005470.3


rs10764638
4034NM_005470.3rs10764638
ACSL6chr5131945621131945621GC0.111472Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001009185.2


rs908013502
472NM_001009185.2rs908013502
AFF1chr48713577387135773AG0.9780803' UTR variant3_prime_UTR_variantMODIFIERNM_001166693.2


rs342464
8080NM_001166693.2rs342464
AKAP9chr79194097691940976GC0.95768645' UTR variant5_prime_UTR_variantMODIFIERNM_005751.4


rs4727267
6864NM_005751.4rs4727267
AKT3chr1243499869243499869CG0.3861523' UTR variant3_prime_UTR_variantMODIFIERNM_005465.4



152NM_005465.4
APCchr5112707585112707585CG0.8872012Intragenic Variantintragenic_variantMODIFIER


rs79896135
2012rs79896135
ARchrX6754531667545316TGCAGCAGCATc.231_239delGCAGCAGCAp.Gln78_Gln80del0.774455In-frame Deletion (Disruptive)disruptive_inframe_deletionMODERATENM_000044.3


rs797045254
455NM_000044.3rs797045254
ARHGEF10Lchr11769750217697503GGC0.90677773' UTR variant3_prime_UTR_variantMODIFIERNM_018125.3


rs3835471
7777NM_018125.3rs3835471
ARNTchr1150807005150807023TTTCTCTCTCTCTCTCTCTC0.478347Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001668.3


rs146635750
347NM_001668.3rs146635750
ARNTchr1150876595150876596ACCAC0.2623435' UTR variant5_prime_UTR_variant, 5_prime_UTR_variantMODIFIERNM_001668.3

COSN2535524
rs66776757
343NM_001668.3COSN2535524rs66776757
ARNTchr1150876595150876595ACCA0.693435' UTR variant5_prime_UTR_variant, 5_prime_UTR_variantMODIFIERNM_001668.3

COSN2535524
rs66776757
343NM_001668.3COSN2535524rs66776757
ASXL1chr203243742832437428TC0.52349433' UTR variant3_prime_UTR_variantMODIFIERNM_015338.5


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


rs78631308
7974NM_004044.6rs78631308
ATICchr2215349769215349769TG0.99179613' UTR variant3_prime_UTR_variantMODIFIERNM_004044.6

COSN19749524
rs10498036
7961NM_004044.6COSN19749524rs10498036
ATP1A1chr1116406090116406090GA0.4384948Downstream Gene Variantdownstream_gene_variantMODIFIERNM_000701.7


rs850610
4948NM_000701.7rs850610
CNV


Histology Information for Model: BCM-15008

Patient

PDX

ER

PR

HER2


Metastasis Information for Model: BCM-15008
 
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-15008

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationReason Stopped
12[Doxorubicin, Cyclophosphamide]Adjuvant64.164.1UnknownSide Effects
14[Docetaxel, Cyclophosphamide]Adjuvant64.1164.45124 daysDisease Progression
22[Gemcitabine, Cisplatin]Recurrent/Metastatic64.5464.54UnknownDisease Progression
26[Radiation Therapy (RT), Cisplatin]Recurrent/Metastatic64.5964.6522 daysDisease Progression












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