Model Details

Patient Information for Model: BCM-0002

Patient Information
Clinical Timeline

Color Keys:
 
 Positive
 
 Negative
 
 N/A

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

Model Information for Model: BCM-0002

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
ABI1chr102674228526742285AG1.04034Downstream Gene Variantdownstream_gene_variantMODIFIERNM_005470.3


rs10764638
4034NM_005470.3rs10764638
ACSL6chr5131947848131947848GAG0.9994719Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001009185.2


rs34365565
4719NM_001009185.2rs34365565
ACVR2Achr2147918442147918442TC0.59731Splice Region Variantsplice_region_variant, intron_variantLOWNM_001278579.1



31NM_001278579.1
AFF1chr48713577387135773AG0.97580803' UTR variant3_prime_UTR_variantMODIFIERNM_001166693.2


rs342464
8080NM_001166693.2rs342464
AKAP9chr79194097691940976GC0.55668645' UTR variant5_prime_UTR_variantMODIFIERNM_005751.4


rs4727267
6864NM_005751.4rs4727267
AKAP9chr79207772192077721CTc.6791C>TgCc/gTcp.Ala2264Val0.134681Missense Variantmissense_variantMODERATENM_005751.4



681NM_005751.4
AKT2chr194023381440233814GT0.94950473' UTR variant3_prime_UTR_variantMODIFIERNM_001626.5


rs2304186
5047NM_001626.5rs2304186
ANK1chr84164838541648385GA1.0171Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001142446.1


rs114558470
171NM_001142446.1rs114558470
ARchrX6754531667545316TGCAGCAGCAGCAGCATc.225_239delGCAGCAGCAGCAGCAp.Gln76_Gln80del0.706451In-frame Deletion (Disruptive)disruptive_inframe_deletionMODERATENM_000044.3


rs745982326
451NM_000044.3rs745982326
ARHGEF10Lchr11769750217697503GGC0.9677773' UTR variant3_prime_UTR_variantMODIFIERNM_018125.3


rs3835471
7777NM_018125.3rs3835471
ARHGEF12chr11120485248120485248AG0.677813' UTR variant3_prime_UTR_variantMODIFIERNM_015313.2


rs115813755
81NM_015313.2rs115813755
ARNTchr1150806925150806925GA0.4133412Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001668.3


rs12746973
3412NM_001668.3rs12746973
ARNTchr1150807005150807025TTTCTCTCTCTCTCTCTCTCTC0.589343Downstream Gene Variantdownstream_gene_variantMODIFIERNM_001668.3



343NM_001668.3
ATICchr2215311925215311925AG0.997974Upstream Gene Variantupstream_gene_variantMODIFIERNM_004044.6


rs78631308
7974NM_004044.6rs78631308
ATICchr2215349769215349769TG0.96879613' UTR variant3_prime_UTR_variantMODIFIERNM_004044.6

COSN19749524
rs10498036
7961NM_004044.6COSN19749524rs10498036
CNV


Histology Information for Model: BCM-0002

Patient

PDX

H&E

ER

PR

HER2


Metastasis Information for Model: BCM-0002
 
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-0002

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
10Docetaxel, DoxorubicinNeoadjuvant43.6244.12183 daysPartial ResponsePartial ResponseCompleted
15Radiation Therapy (RT)Adjuvant43.743.8762 daysNot ReportedNot ApplicableCompleted
20Docetaxel, DoxorubicinAdjuvant43.9544.1262 daysNot ReportedNot ApplicableUnknown
25DocetaxelAdjuvant44.244.62153 daysNot ReportedNot ApplicableUnknown
30TamoxifenAdjuvant45.6250.451763 daysNot ReportedNot ApplicableCompleted
35LetrozoleAdjuvant50.4852.7810 daysNot ReportedNot ApplicableDisease Progression
50Paclitaxel, CarboplatinRecurrent/Metastatic52.7754.12493 daysNot ReportedNot ApplicableUnknown
55CarboplatinRecurrent/Metastatic54.1854.97288 daysNot ReportedNot ApplicableUnknown
60AnastrozoleRecurrent/Metastatic55.6256.08168 daysProgressive DiseaseNot ApplicableDisease Progression
70Radiation Therapy (RT)Recurrent/Metastatic56.0256.129 daysNot ReportedNot ApplicableTreatment Completed
75CapecitabineRecurrent/Metastatic56.0857.02343 daysNot ReportedNot ApplicableDisease Progression
80GemcitabineRecurrent/Metastatic57.0357.91321 daysNot ReportedNot ApplicableDisease Progression
90Radiation Therapy (RT)Recurrent/Metastatic57.1157.11UnknownNot ReportedNot ApplicableTreatment Completed












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