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

Model Details - Initial Implantation of Patient Tissue
Biomarkers & Mutations
Model Details - Acceptable Conditions for Passaging
Mutations (Cancer Gene Census List)

The number of models in this collection with mutations in the listed gene;
may include models that are not publicly available for distribution.
The number of models in this collection with mutations at the listed site;
may include models that are not publicly available for distribution.
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
AFF3chr29959387599593880CTGAGGCc.1856_1860delaCCTCA/ap.T619Sfs*720.426122Frameshift MutationFrameshift MutationHIGHENST00000409579.5

COSV57864141
rs199557232
122ENST00000409579.5COSV57864141rs199557232
AFF3chr29959387299593873CGCc.1863delgcC/gcp.D623Tfs*480.426125Frameshift MutationFrameshift MutationHIGHENST00000409579.5

COSV57841232
rs201754690
125ENST00000409579.5COSV57841232rs201754690
AKAP9chr79210570992105709GCc.11362G>CGtc/Ctcp.V3788L0.403501Missense VariantMissense VariantMODERATEENST00000356239.8
Conflicting_interpretations_of_pathogenicity

0.000139277000rs199527737
501ENST00000356239.8Conflicting_interpretations_of_pathogenicityrs199527737
ANK1chr84169529141695291GAc.3001C>TCgt/Tgtp.R1001C0.26291Missense VariantMissense VariantMODERATEENST00000289734.13


0.000008442020rs148222043
91ENST00000289734.13rs148222043
ARchrX6754531667545322TGCAGCATc.234_239delctGCAGCAg/ctgp.Q79_Q80del0.743488In-frame DeletionIn-frame DeletionMODERATEENST00000374690.9

COSV65952724

488ENST00000374690.9COSV65952724
ATMchr11108247071108247071CTc.1009C>TCgt/Tgtp.R337C0.4101Missense VariantMissense VariantMODERATEENST00000278616.8
Uncertain_significance
COSV53723836
0.000080277800rs138398778
101ENST00000278616.8Uncertain_significanceCOSV53723836rs138398778
ATRXchrX7768247177682471CGc.2785G>CGag/Cagp.E929Q0.9615956Missense VariantMissense VariantMODERATEENST00000373344.10
Benign

rs3088074
5956ENST00000373344.10Benignrs3088074
BRCA1chr174309149243091492TCc.4039A>GAga/Ggap.R1347G0.588191Missense VariantMissense VariantMODERATEENST00000357654.9
Benign
COSV100524757
0.003703270000rs28897689
191ENST00000357654.9BenignCOSV100524757rs28897689
CBLBchr3105702216105702216CAc.1837G>TGgc/Tgcp.G613C0.32171Missense VariantMissense VariantMODERATEENST00000394030.8


0.000004224150rs1476818648
71ENST00000394030.8rs1476818648
CDKN1Achr63668419436684194CAc.93C>AagC/agAp.S31R0.63142Missense VariantMissense VariantMODERATEENST00000244741.10
Benign
COSV55187247
0.156476000000rs1801270
42ENST00000244741.10BenignCOSV55187247rs1801270
CICchr194229085442290854CTc.2086C>TCgg/Tggp.R696W0.481111Missense VariantMissense VariantMODERATEENST00000575354.6

COSV50547794
0.000030632200rs550975604
111ENST00000575354.6COSV50547794rs550975604
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.9798584Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
8584ENST00000618327.4Benignrs7197779
COL2A1chr124799787447997874TAc.426A>TgaA/gaTp.E142D0.59791Missense VariantMissense VariantMODERATEENST00000380518.8
Benign

0.037236200000rs34392760
91ENST00000380518.8Benignrs34392760
CREB1chr2207560248207560248CTc.137C>TgCa/gTap.A46V0.40711Missense VariantMissense VariantMODERATEENST00000353267.8


0.000199305000rs143117860
11ENST00000353267.8rs143117860
CSMD3chr8112573521112573521CTc.4022G>AgGc/gAcp.G1341D0.137241Missense VariantMissense VariantMODERATEENST00000297405.10



241ENST00000297405.10
CNV


Histology Information for Model: BCM-0113

Patient

PDX


Metastasis Information for Model: BCM-0113
 
Patient
PDX
Abdomen
Abdominal cavity
Adrenal Gland
Anterosuperior mediastinum
Ascites
Axillary Lymph Node
Bone
Brain
CTC
Chest
Chest wall
Contralateral Breast
Fallopian tubes
Head
Hilar Node
Hip
Kidney
Leg bone
Leptomeninges
Liver
Lung
Lymph Node
Mediastinum
Metastasis Pleura
Neck
None
Other
Ovary
Pancreas
Paratracheal adenopathy
Pericardium
Peritoneal cavity
Peritoneum
Pleura
Pleural cavity
Pleural effusion
Posterior cervical nodes
Pulmonary
Retrocrural Lymph Node
SVC node
Sacral Spine
Skin
Spine
Spleen
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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