PDX Portal

Model Details

Patient Information for Model: HCI-015

Model Contact

Model: HCI-015
Model Contact: Alana Welm
Institution: HCI Breast PDX Program
Email: Alana.Welm@hci.utah.edu

Patient Information

Clinical Timeline

Color Keys:

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Negative

N/A

Clinical Information at Collection

Clinical Biomarkers/Mutations at Collection

Pathology Information at Collection

Model Information for Model: HCI-015

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
AKAP9	chr7	92022864	92022864	A	AAAC	c.4004_4006dup	aaa/aAACaa	p.K1335_L1336insQ	0.538	50	35	In-frame Insertion	In-frame Insertion	MODERATE	ENST00000356239.8		COSV62337888		rs10644111	50	35	ENST00000356239.8		COSV62337888	rs10644111
AR	chrX	67545316	67545316	T	TGCAGCA	c.234_239dup	ctg/ctGCAGCAg	p.Q79_Q80dup	0.665	48	3	In-frame Insertion	In-frame Insertion	MODERATE	ENST00000374690.9		COSV65953707			48	3	ENST00000374690.9		COSV65953707
ARID1A	chr1	26696664	26696679	AGCCGGCAGCGGCGGC	A	c.263_277del	GCCGGCAGCGGCGGC/-	p.A88_G92del	0.281	19	1	In-frame Deletion	In-frame Deletion	MODERATE	ENST00000324856.13				rs1191458952	19	1	ENST00000324856.13			rs1191458952
BRCA2	chr13	32376714	32376714	C	T	c.8677C>T	Cag/Tag	p.Q2893*	0.968	21	1	Nonsense Mutation	Nonsense Mutation	HIGH	ENST00000380152.7	Pathogenic			rs397507409	21	1	ENST00000380152.7	Pathogenic		rs397507409
BRCA2	chr13	32379413	32379413	G	A	c.8851G>A	Gcc/Acc	p.A2951T	0.989	21	2	Missense Variant	Missense Variant	MODERATE	ENST00000380152.7	Benign	COSV66463542	0.009834290000	rs11571769	21	2	ENST00000380152.7	Benign	COSV66463542	rs11571769
CDH1	chr16	68829687	68829687	G	A	c.2329G>A	Gac/Aac	p.D777N	0.46	7	1	Missense Variant	Missense Variant	MODERATE	ENST00000261769.10	Likely_benign		0.000105520000	rs372989292	7	1	ENST00000261769.10	Likely_benign		rs372989292
CHD2	chr15	93024673	93024673	C	G	c.5455C>G	Cca/Gca	p.P1819A	0.217	5	1	Missense Variant	Missense Variant	MODERATE	ENST00000394196.9					5	1	ENST00000394196.9
CIITA	chr16	10909070	10909070	A	G	c.2702A>G	cAg/cGg	p.Q901R	0.963	85	84	Missense Variant	Missense Variant	MODERATE	ENST00000618327.4	Benign		0.983235000000	rs7197779	85	84	ENST00000618327.4	Benign		rs7197779
CREB3L2	chr7	137928167	137928170	CTGG	C	c.299_301del	aCCAgt/agt	p.T100del	0.982	49	49	In-frame Deletion	In-frame Deletion	MODERATE	ENST00000330387.11		COSV57791862		rs3217268	49	49	ENST00000330387.11		COSV57791862	rs3217268
CSMD3	chr8	112244454	112244454	T	C	c.10342A>G	Aca/Gca	p.T3448A	0.131	24	1	Missense Variant	Missense Variant	MODERATE	ENST00000297405.10		COSV52271112		rs1586513717	24	1	ENST00000297405.10		COSV52271112	rs1586513717
CSMD3	chr8	112265503	112265503	C	A	c.9596G>T	tGc/tTc	p.C3199F	0.032	24	1	Missense Variant	Missense Variant	MODERATE	ENST00000297405.10		COSV99830025			24	1	ENST00000297405.10		COSV99830025
CYP2C8	chr10	95058454	95058454	G	C	c.700C>G	Ctt/Gtt	p.L234V	0.274	3	1	Missense Variant	Missense Variant	MODERATE	ENST00000371270.6					3	1	ENST00000371270.6
DCC	chr18	53322098	53322098	A	G	c.2105A>G	aAt/aGt	p.N702S	0.69	15	3	Missense Variant	Missense Variant	MODERATE	ENST00000442544.7	Uncertain_significance		0.002677680000	rs35691189	15	3	ENST00000442544.7	Uncertain_significance		rs35691189
EP300	chr22	41129899	41129899	G	A	c.1178G>A	tGt/tAt	p.C393Y	0.958	22	1	Missense Variant	Missense Variant	MODERATE	ENST00000263253.9					22	1	ENST00000263253.9
EP300	chr22	41149786	41149786	C	T	c.2405C>T	cCg/cTg	p.P802L	0.951	22	1	Missense Variant	Missense Variant	MODERATE	ENST00000263253.9	Uncertain_significance	COSV54329352	0.000046432300	rs749702423	22	1	ENST00000263253.9	Uncertain_significance	COSV54329352	rs749702423

CNV

Histology Information for Model: HCI-015

There are no histology images for this model.

Metastasis Information for Model: HCI-015

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-015

Event Id	Treatment	Treatment Setting	Age at Start	Age at End	Duration	Clinical Response
10	Doxorubicon, Cyclophosphamide/Paclitaxel	Neoadjuvant	48.33	48.67	124 days	Progressive disease
20	Radiation Therapy Brain	Adjuvant	49.08	49.16	29 days	Progressive disease
25	Radiation Therapy Brain	Adjuvant	49.25	49.33	29 days	Progressive disease