DETAILED GENOMIC ANALYSIS
This section summarizes the genomic events detected in the tumour. Details of events reported to be associated with therapeutic, biological, prognostic and diagnostic evidence are imported from the GSC-knowledgebase. Genomic events of uncertain significance in known cancer-related genes are listed at this end of the section.
THERAPIES APPROVED IN THIS TUMOUR TYPE
No approved therapies were found for this tumour type.
THERAPIES APPROVED IN OTHER TUMOUR TYPES
No approved therapies were found for other tumour types.
ALTERATIONS WITH POTENTIAL CLINICAL RELEVANCE
KNOWN ALTERATIONS WITH THERAPEUTIC RELEVANCE
Gene: CCNA2
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Therapeutic Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| 24622579 |
Gene: CES2
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Therapeutic Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| 26025324 |
Gene: MYC
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Gain
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Therapeutic Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| 15132769 |
Gene: PTEN
Variant: reduced expression
Source: POG098-OCT-1_trans
Expression: Down
Disease Percentile: Low
Copy Number: Neutral
Zygosity: na
Gene: SKP2
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Therapeutic Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| POG-unpublished |
KNOWN ALTERATIONS WITH PROGNOSTIC RELEVANCE
Gene: CES2
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Therapeutic Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| 26025324 |
KNOWN ALTERATIONS WITH DIAGNOSTIC RELEVANCE
No alterations with diagnostic relevance were found from the analysis.
KNOWN ALTERATIONS WITH BIOLOGICAL RELEVANCE
Gene: APC
Variant: copy loss
Source: POG098-OCT-1
Expression: Down
Disease Percentile: Mid
Copy Number: Loss
Zygosity: het
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| 14691304 |
Gene: CCNA2
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| not specified |
Gene: CES2
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| 26025324 |
Gene: EWSR1::FLI1
Variant: e7:e4
Source: POG098-OCT-1;POG098-OCT-1_trans
Expression: na
Disease Percentile: na
Copy Number: na
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| archerDx.com | ||||||
| cancer.sanger.ac.uk/cosmic | archerDx.com |
Gene: MYC
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Gain
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| increased expression | increased-function | ovary adenocarcinoma |
increased-function | oncogene | reported | 15132769 |
Gene: PTEN
Variant: reduced expression
Source: POG098-OCT-1_trans
Expression: Down
Disease Percentile: Low
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| reduced expression | reduced-function | breast cancer | reduced-function | tumour suppressor | reported | 18332865 |
Gene: SKP2
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| increased expression | increased-function | Multiple Cancers(6) | increased-function | cancer related gene | reported | 22322669 |
Gene: TOP2A
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| increased expression | increased-function | hepatocellular carcinoma |
increased-function | cancer related gene | reported | 20371687 |
Gene: TP53
Variant: increased expression
Source: POG098-OCT-1_trans
Expression: Up
Disease Percentile: High
Copy Number: Neutral
Zygosity: na
| Known Variant | Effect | Cancer Type | Association | Biological Context | Evidence | Reference (PMID) |
|---|---|---|---|---|---|---|
| increased expression | increased-function | ovary adenocarcinoma | increased-function | tumour suppressor | reported | 22699455 |
UNCHARACTERIZED ALTERATIONS
Gene: CHD2
Variant: p.Q366fs
Source: POG098-OCT-1;POG098-OCT-1_trans
Expression: Neutral
Disease Percentile: High
Copy Number: Neutral
Zygosity: het
Gene: HDAC7
Variant: p.A60V
Source: POG098-OCT-1;POG098-OCT-1_trans
Expression: Neutral
Disease Percentile: Low
Copy Number: Neutral
Zygosity: het
Gene: KDM5C
Variant: p.E1366*
Source: POG098-OCT-1;POG098-OCT-1_trans
Expression: Down
Disease Percentile: Low
Copy Number: Loss
Zygosity: hom
Gene: KIAA1549
Variant: p.E1802D
Source: POG098-OCT-1
Expression: Neutral
Disease Percentile: Mid
Copy Number: Neutral
Zygosity: hom
Gene: SMARCA1
Variant: p.A40V
Source: POG098-OCT-1;POG098-OCT-1_trans
Expression: Neutral
Disease Percentile: High
Copy Number: Loss
Zygosity: hom
Gene: ZNF687
Variant: p.L743fs
Source: POG098-OCT-1
Expression: Neutral
Disease Percentile: Low
Copy Number: Neutral
Zygosity: het
TARGETED GENE REPORT - DETECTED ALTERATIONS
The following alterations were detected by the Targeted Gene Report rapid analysis pipeline.
Gene: EWSR::FLI1
Variant: e7:e4
Source: POG098-OCT-1_trans