PDX Portal

Model Details

Patient Information for Model: HCI-002

Model Contact

Model: HCI-002
Model Contact: Alana Welm
Institution: HCI Breast PDX Program
Email: Alana.Welm@hci.utah.edu

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: HCI-002

Model Details - Initial Implantation of Patient Tissue

Biomarkers & Mutations

Model Details - Acceptable Conditions for Passaging

Mutations (Cancer Gene Census List)

GeneFilter by Gene	ChrFilter by Chr	Start	End	Ref	Alt	cDNA Change	Codon Change	Protein Change	TVAF	Gene Mutation Freq.	Site Mutation Freq.	Most Severe Effect	All Effects	Mutation Impact	Transcript ID	ClinVar Clinical Significance	COSMIC ID	gnomAD Non-Cancer AF	dbSNP ID	Gene Mutation Freq.	Site Mutation Freq.	Transcript ID	ClinVar Clinical Significance	COSMIC ID	dbSNP ID
AR	chrX	67546514	67546526	TGGCGGCGGCGGC	T	c.1409_1420del	GGCGGCGGCGGC/-	p.G470_G473del	0.594	48	2	In-frame Deletion	In-frame Deletion	MODERATE	ENST00000374690.9		COSV65964523			48	2	ENST00000374690.9		COSV65964523
AR	chrX	67545316	67545319	TGCA	T	c.237_239del	ctGCAg/ctg	p.Q80del	0.495	48	9	In-frame Deletion	In-frame Deletion	MODERATE	ENST00000374690.9		COSV65954886			48	9	ENST00000374690.9		COSV65954886
ATRX	chrX	77682471	77682471	C	G	c.2785G>C	Gag/Cag	p.E929Q	0.555	59	56	Missense Variant	Missense Variant	MODERATE	ENST00000373344.10	Benign			rs3088074	59	56	ENST00000373344.10	Benign		rs3088074
BAP1	chr3	52402857	52402877	CAGTGCCAGCAGCTCCTGCCA	C	c.1891-6_1904del			0.953	5	2	Splice Acceptor Variant	Splice Acceptor Variant; Coding Sequence Variant; Intronic Variant	HIGH	ENST00000460680.6					5	2	ENST00000460680.6
BCORL1	chrX	130021133	130021133	C	G	c.3590C>G	gCc/gGc	p.A1197G	0.102	11	1	Missense Variant	Missense Variant	MODERATE	ENST00000540052.5					11	1	ENST00000540052.5
CIITA	chr16	10909070	10909070	A	G	c.2702A>G	cAg/cGg	p.Q901R	0.977	85	84	Missense Variant	Missense Variant	MODERATE	ENST00000618327.4	Benign		0.983235000000	rs7197779	85	84	ENST00000618327.4	Benign		rs7197779
CNTNAP2	chr7	147132381	147132381	A	G	c.1220A>G	aAt/aGt	p.N407S	0.305	10	2	Missense Variant	Missense Variant	MODERATE	ENST00000361727.8	Conflicting_interpretations_of_pathogenicity		0.000921550000	rs143877693	10	2	ENST00000361727.8	Conflicting_interpretations_of_pathogenicity		rs143877693
ERCC2	chr19	45351661	45351661	T	G	c.2251A>C	Aag/Cag	p.K751Q	0.412	48	46	Missense Variant	Missense Variant	MODERATE	ENST00000391945.10	Benign/Likely_benign	COSV67266431	0.322955000000	rs13181	48	46	ENST00000391945.10	Benign/Likely_benign	COSV67266431	rs13181
ESR1	chr6	151808264	151808264	T	C	c.352T>C	Tcg/Ccg	p.S118P	0.5	10	2	Missense Variant	Missense Variant	MODERATE	ENST00000440973.5	Benign		0.004406840000	rs200075329	10	2	ENST00000440973.5	Benign		rs200075329
ETNK1	chr12	22684951	22684951	G	T	c.1089G>T	gaG/gaT	p.E363D	0.308	3	2	Missense Variant	Missense Variant	MODERATE	ENST00000266517.9			0.000102593000	rs142528168	3	2	ENST00000266517.9			rs142528168
EWSR1	chr22	29297925	29297925	G	A	c.1408G>A	Ggc/Agc	p.G470S	0.978	5	4	Missense Variant	Missense Variant	MODERATE	ENST00000414183.6	Uncertain_significance	COSV58428629	0.007975060000	rs41311143	5	4	ENST00000414183.6	Uncertain_significance	COSV58428629	rs41311143
GATA2	chr3	128486108	128486108	C	T	c.490G>A	Gcc/Acc	p.A164T	0.517	13	9	Missense Variant	Missense Variant	MODERATE	ENST00000341105.7	Benign	COSV62003051	0.199868000000	rs2335052	13	9	ENST00000341105.7	Benign	COSV62003051	rs2335052
HLA-A	chr6	29944503	29944504	TG	CA	c.899_900inv	cTG/cCA	p.L300P	0.27	24	11	Missense Variant	Missense Variant	MODERATE	ENST00000376809.10				rs35946537	24	11	ENST00000376809.10			rs35946537
IRS4	chrX	108735112	108735113	TC	AT	c.1232_1233delinsAT	cGA/cAT	p.R411H	0.488	13	3	Missense Variant	Missense Variant	MODERATE	ENST00000372129.3				rs375938401	13	3	ENST00000372129.3			rs375938401
KEAP1	chr19	10486666	10486669	TCTG	T	c.1858_1860del	CAG/-	p.Q620del	0.514	2	2	In-frame Deletion	In-frame Deletion	MODERATE	ENST00000171111.10		COSV104383915		rs559787043	2	2	ENST00000171111.10		COSV104383915	rs559787043

CNV

Histology Information for Model: HCI-002

There are no histology images for this model.

Metastasis Information for Model: HCI-002

Patient

PDX

Abdomen

Adrenal gland

Bone

Bones

Brain

CTC

Chest

Chest wall

Contralateral Breast

Dura

Fallopian Tubes

Head

Kidney

Liver

Lung

Lymph node

Lymph nodes

Neck

Ovary

Pancreas

Pericardium

Peritoneal cavity

Peritoneum

Pleura

Pleural effusion

Shoulder

Skin

Spine

Spleen

Thoracic Spine

Thymus

Patient Treatment Information for Model: HCI-002

Event Id	Treatment	Treatment Setting	Age at Start	Age at End	Duration
10	Radiation Therapy	Adjuvant	61.08	61.16	29 days
15	Zometa	Adjuvant	61.67	61.75	29 days