Patient Details
Patient Name
NA
Age
NA
Sex
NA
Patient ID
NA
Test Requested
NA
Specimen Details
Tumor Type
Colorectal Cancer
Specimen Type
DNA sample
Tumor Purity
NA
Collection Date
NA
Report Date
NA
Clinical Diagnosis
Metastatic adenocarcinoma of colorectal origin
Result Summary
| Genomic Finding | Result | Classification / Status | Therapy Association in Tumor Type | Other Tumor-Type Associations |
|---|---|---|---|---|
| KRAS c.35G>C (p.Gly12Ala) VAF 21% |
SNV / Indel | Pathogenic |
Panitumumab — 1A Panitumumab + FOLFOX — 1A Cetuximab + Panitumumab — 1B Cetuximab + Chemotherapy — 1B Resistance |
Atezolizumab — 1B Nivolumab — 1B |
| APC c.3925G>T (p.Glu1309*) VAF 33% |
SNV / Indel | Pathogenic | NA | NA |
| TP53 c.470T>G (p.Val157Gly) VAF 24% |
SNV / Indel | Pathogenic | NA | Venetoclax — 1A Idelalisib + Rituximab — 1A Chemotherapy — 1B |
| CNVs | Not detected | — | — | — |
| Gene Fusions | Not detected | — | — | — |
Therapy levels and resistance statements in this sample are reproduced from the supplied reference report. They are not current treatment recommendations.
Biomarker Findings
Tumor Mutation Burden (TMB)
10 mutations/Mb
Intermediate
The supplied report classifies 8–19 mutations/Mb as TMB-Intermediate.
Microsatellite Instability (MSI)
0.18
Stable (MSS)
The supplied report describes a threshold of 0.1 for the example MSI algorithm.
Variant Findings
KRAS — NM_004985.5:c.35G>C (p.Gly12Ala)
Coordinate: Chr17(hg19):g7578403
Exon: 2/5
Classification: Pathogenic
VAF: 21%
Interpretive note: the supplied reference report identifies this alteration as an activating KRAS mutation and describes association with resistance to selected anti-EGFR antibody therapies in colorectal cancer.
APC — NM_000038.6:c.3925G>T (p.Glu1309*)
Coordinate: Chr5(hg19):g112175216
Exon: 16/16
Classification: Pathogenic
VAF: 33%
Interpretive note: the supplied reference report describes this truncating APC alteration in the context of colorectal cancer and discusses WNT-pathway biology.
TP53 — NM_000546.6:c.470T>G (p.Val157Gly)
Coordinate: Chr17(hg19):g7578460
Exon: 5/11
Classification: Pathogenic
VAF: 24%
Interpretive note: the supplied reference report describes TP53 dysregulation as a common event in colorectal-cancer transformation and reports broader therapeutic/research associations.
Clinical Trials Relevant to the Example Findings
| Finding | NCT | Phase | Treatment | Cancer Type / Context |
|---|---|---|---|---|
| KRAS mutation | NCT02576444 | II | Olaparib combinations | Colorectal Cancer |
| APC mutation | NCT02982694 | II | Atezolizumab + Bevacizumab | Colorectal Cancer |
| TP53 mutation | NCT04095273 | I / Ib | Elimusertib + Pembrolizumab | Advanced solid tumors / colorectal cancer context in source |
| TP53 mutation | NCT05002868 | I / Ib | RP12146 | Locally advanced or metastatic solid tumors |
| TP53 mutation | NCT04293094 | I/II as described in source | Olaparib | Progressive locally advanced or metastatic solid tumors |
The trial entries above are included to mirror the structure of the supplied sample report and must be independently checked for current status and eligibility before clinical use.
Representative Gene Scope
The supplied reference report contains a broad list of genes for SNV/CNV/INDEL analysis plus a separate fusion list. Representative genes include:
ABCB1AKT1ALKAPCATMBRAFBRCA1BRCA2CD274CDKN2AEGFRERBB2KRASMLH1MSH2MSH6NTRK1NTRK2NTRK3PIK3CAPTENRETROS1SMAD4TP53
Reference Methodology
DNA isolated from FFPE or another fresh tumour tissue source was used in the supplied reference report for targeted gene capture with a custom capture kit. Libraries were sequenced to a mean >700X coverage on an Illumina sequencing platform. Sequences were aligned to GRCh37/hg19 and analyzed using a bioinformatics pipeline. The source report describes annotation using ClinVar, COSMIC and dbSNP, population filtering using resources including 1000 Genomes Phase 3, ExAC, dbSNP and gnomAD, and use of in-silico predictors including CADD, SIFT, PolyPhen-2, Condel and MutationTaster when a known clinically significant variant was not available. Pathogenic variants were described as being interpreted using ACMG guidance.
Important: this paragraph describes the methodology stated in the supplied reference report. It is not a finalized GenPeima assay specification.
Limitations
- The test should be considered one component of the overall diagnostic and treatment process.
- Potential errors may arise from contamination, rare technical errors, variants interfering with analysis, evolving scientific knowledge, and alternative classification systems.
- Copy-number abnormalities and rearrangements may not be reliably detected by every assay design and may require confirmation by an alternate method.
- Tumor genomic profiles may differ between sampling time points; the supplied report recommends using the most recent clinically relevant block for testing.
- Variant classifications can change as evidence evolves.
Sample Report Disclaimer. This document is an illustrative GenPeima sample report created from the supplied reference report. It is not a clinical laboratory report, does not establish analytical or clinical performance, and must not be used to make patient-treatment decisions. A production GenPeima report should only be issued after assay-specific validation, controlled evidence-resource versioning, defined reporting criteria, qualified clinical review, and laboratory authorization.