Model Details

Patient Information for Model: BCM-0046

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-0046

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
ALDH2chr12111789845111789845ATc.463A>TAag/Tagp.K155*0.80521Nonsense MutationNonsense MutationHIGHENST00000261733.7



21ENST00000261733.7
ATRXchrX7768247177682471CGc.2785G>CGag/Cagp.E929Q0.9995956Missense VariantMissense VariantMODERATEENST00000373344.10
Benign

rs3088074
5956ENST00000373344.10Benignrs3088074
BAP1chr35240450052404500ACc.1203T>GtaT/taGp.Y401*0.83351Nonsense MutationNonsense MutationHIGHENST00000460680.6
Conflicting_interpretations_of_pathogenicity

0.000149294000rs200156887
51ENST00000460680.6Conflicting_interpretations_of_pathogenicityrs200156887
BAP1chr35240450252404502ACc.1201T>GTat/Gatp.Y401D0.851Missense VariantMissense VariantMODERATEENST00000460680.6
Uncertain_significance

0.000149312000rs376563004
51ENST00000460680.6Uncertain_significancers376563004
BAZ1Achr143479278234792782GTc.1503C>AgaC/gaAp.D501E0.37591Missense VariantMissense VariantMODERATEENST00000360310.6



91ENST00000360310.6
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.9678584Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
8584ENST00000618327.4Benignrs7197779
COL2A1chr124798575947985759CAc.1649G>TcGt/cTtp.R550L0.4291Missense VariantMissense VariantMODERATEENST00000380518.8
Benign/Likely_benign

0.001235070000rs186233557
91ENST00000380518.8Benign/Likely_benignrs186233557
ERBB3chr125610121456101214ATc.3355A>TAgc/Tgcp.S1119C0.711149Missense VariantMissense VariantMODERATEENST00000267101.8
Benign
COSV57247854
0.088057000000rs773123
149ENST00000267101.8BenignCOSV57247854rs773123
ERCC2chr194535166145351661TGc.2251A>CAag/Cagp.K751Q0.5924846Missense VariantMissense VariantMODERATEENST00000391945.10
Benign/Likely_benign
COSV67266431
0.322955000000rs13181
4846ENST00000391945.10Benign/Likely_benignCOSV67266431rs13181
FANCEchr63545794435457944CGc.929C>GcCa/cGap.P310R0.13441Missense VariantMissense VariantMODERATEENST00000229769.3
Uncertain_significance

0.000147709000rs139600847
41ENST00000229769.3Uncertain_significancers139600847
FHchr1241517259241517259TCc.190A>GAat/Gatp.N64D0.28351Missense VariantMissense VariantMODERATEENST00000366560.4
Uncertain_significance

0.000004221010rs886046319
51ENST00000366560.4Uncertain_significancers886046319
KAT6Bchr107502214775022150GGAAGc.3310_3312delGAA/-p.E1104del0.9214533In-frame DeletionIn-frame DeletionMODERATEENST00000287239.10

COSV54741061

4533ENST00000287239.10COSV54741061
KMT2Achr11118436670118436670CTc.158C>TgCg/gTgp.A53V0.562195Missense VariantMissense VariantMODERATEENST00000534358.8
Benign/Likely_benign
COSV100630341
0.002430870000rs9332747
195ENST00000534358.8Benign/Likely_benignCOSV100630341rs9332747
MAML2chr119609221096092219TTGCTGCTGCTc.1812_1820delcaGCAGCAGCAa/caap.Q619_Q621del0.7616859In-frame DeletionIn-frame DeletionMODERATEENST00000524717.6

COSV73262593

6859ENST00000524717.6COSV73262593
MECOMchr3169116188169116188CTc.1684G>AGag/Aagp.E562K0.40371Missense VariantMissense VariantMODERATEENST00000651503.2

COSV52963475
0.000046565600rs149928659
71ENST00000651503.2COSV52963475rs149928659
CNV


Histology Information for Model: BCM-0046

Patient

PDX


Metastasis Information for Model: BCM-0046
 
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-0046

Event IdTreatmentTreatment SettingAge at StartAge at EndDurationClinical ResponsePathologic ResponseReason Stopped
10Epirubicin, CyclophosphamideNeoadjuvant53.6253.8480 daysPartial ResponseNot ApplicableTreatment Completed
15DocetaxelNeoadjuvant53.8554.0262 daysStable DiseasePartial ResponseTreatment Completed
25Radiation Therapy (RT)Adjuvant54.2454.4162 daysNot ReportedNot Reported














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