Model Details

Patient Information for Model: BCM-0113

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-0113

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
ABI1chr102674228426742285CATG0.822401Downstream Gene Variantdownstream_gene_variantMODIFIERNM_005470.3



401NM_005470.3
AFF1chr48713577387135773AG0.97780803' UTR variant3_prime_UTR_variantMODIFIERNM_001166693.2


rs342464
8080NM_001166693.2rs342464
AKAP9chr79194097691940976GC0.53268645' UTR variant5_prime_UTR_variantMODIFIERNM_005751.4


rs4727267
6864NM_005751.4rs4727267
AKAP9chr79210570992105709GCc.11362G>CGtc/Ctcp.Val3788Leu0.403681Missense Variantmissense_variantMODERATENM_005751.4


0.000139277000rs199527737
681NM_005751.4rs199527737
ANK1chr84169529141695291GAc.3124C>TCgt/Tgtp.Arg1042Cys0.262171Missense Variantmissense_variantMODERATENM_001142446.1


0.000008442020rs148222043
171NM_001142446.1rs148222043
ARchrX6754531667545316TGCAGCATc.234_239delGCAGCAp.Gln79_Gln80del0.743458In-frame Deletion (Disruptive)disruptive_inframe_deletionMODERATENM_000044.3

COSM1723851
rs772149730
458NM_000044.3COSM1723851rs772149730
ARHGEF10Lchr11769750217697503GGC0.96677773' UTR variant3_prime_UTR_variantMODIFIERNM_018125.3


rs3835471
7777NM_018125.3rs3835471
ARNTchr1150807005150807025TTTCTCTCTCTCTCTCTCTCTC0.744343Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001668.3



343NM_001668.3
ASXL1chr203243742832437428TC0.95449433' UTR variant3_prime_UTR_variantMODIFIERNM_015338.5


rs2295763
4943NM_015338.5rs2295763
ATICchr2215311925215311925AG0.8747974Upstream Gene Variantupstream_gene_variantMODIFIERNM_004044.6


rs78631308
7974NM_004044.6rs78631308
ATICchr2215349769215349769TG0.94479613' UTR variant3_prime_UTR_variantMODIFIERNM_004044.6

COSN19749524
rs10498036
7961NM_004044.6COSN19749524rs10498036
ATICchr2215312057215312057CT0.36379125' UTR variant5_prime_UTR_variantMODIFIERNM_004044.6

COSN6680751
rs28366034
7912NM_004044.6COSN6680751rs28366034
ATMchr11108247071108247071CTc.1009C>TCgt/Tgtp.Arg337Cys0.491Missense Variantmissense_variantMODERATENM_000051.3

COSM1350749
0.000080277800rs138398778
91NM_000051.3COSM1350749rs138398778
ATRXchrX7768247177682471CGc.2785G>CGag/Cagp.Glu929Gln0.9615452Missense Variantmissense_variantMODERATENM_000489.4


rs3088074
5452NM_000489.4rs3088074
AXIN1chr16282558282558CGC0.7146250Downstream Gene Variantdownstream_gene_variantMODIFIERNM_003502.3


rs61572786
6250NM_003502.3rs61572786
CNV


Histology Information for Model: BCM-0113

Patient

PDX

H&E

ER

PR

HER2


Metastasis Information for Model: BCM-0113
 
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-0113

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
6[Doxorubicin]Neoadjuvant63.5163.5826 daysNot ReportedNot ReportedUnknown
8[Doxorubicin, Cyclophosphamide]Neoadjuvant63.6663.8362 daysNot ReportedNot ReportedTreatment Completed
12[Docetaxel]Neoadjuvant63.8963.89UnknownNot ReportedNot ReportedSide Effects
14[Paclitaxel]Neoadjuvant63.9564.0329 daysNot ReportedNot ReportedSide Effects
17[Carboplatin]Adjuvant64.2164.3862 daysNot ReportedNot ReportedTreatment Completed
32[Ixabepilone, Capecitabine]Recurrent/Metastatic64.5364.7373 daysNot ReportedNot ReportedUnknown












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