Comprehensive Variant Detection
Hotspot Detection is not good enough.
The Resolution Bioscience ctDx platform has been validated to detect all four kinds of mutations. Other assays may only detect SNVs or small indels. Unfortunately, a cancer can progress with other types of mutations such as gene amplification. If your diagnostic test cannot detect all four kinds of mutations, then you may miss critical information required to make the proper clinical decision.
Single Nucleotide Variants
A SNV results when a single nucleotide changes from one base to another.
Indels
An insertion or deletion mutation (indel) is a type of genetic mutation where a sequence of nucleotides is inserted or deleted from the reference genome.
Fusions
Hybrid gene formed by the joining of two separate genes through translocation, deletion, or inversion.
Copy Number Variation
Cells with CNV have an abnormal number of copies of one or more sections of the DNA.
Single Nucleotide Variant
KRAS G12C (GGT>TGT) occurs in about 40% of NSCLC KRAS mutations.
KRAS G12C Clinical Plasma Specimen
| Gene | Variant | AF | Location | Ref/Alt |
|---|---|---|---|---|
| KRAS | G12C | 1.5% | chr12: 25398285 | C / A |
| TP53 | A159G | 0.6% | chr17: 7578454 | G / C |
EGFR T790M Clinical Plasma Specimen
| Gene | Variant | AF | Location | Ref/Alt |
|---|---|---|---|---|
| EGFR | KELREA745K | 30.7% | chr7: 55242464 | AGGAATTAAGAGAAGC / A |
| TP53 | S241F | 15.2% | chr17: 7577559 | G / A |
| EGFR | T7690M | 3.1% | chr7: 55249071 | C / T |
Insertions & Deletions (Indels)
Indels are less common than SNVs. An indel in a coding region that is not a multiple of 3 nucleotides results in a frameshift mutation, which may alter the protein structure and function.
EGFR Indel Clinical Plasma Specimen
| Gene | Variant | AF | Location | Ref/Alt |
|---|---|---|---|---|
| EGFR | ELREAT746A | 3.3% | chr7: 55242466 | GAATTAAGAGAAGCAA / G |
Fusions
The ctDx platform is gene fusion partner and breakpoint agnostic — we discover novel fusions.
ALK Fusion Clinical Plasma Specimen
| Gene | Variant | AF | Location |
|---|---|---|---|
| ALK | EML4-ALK Fusion | 0.53% | chr2:42552722-chr2:29446701 |
RET Fusion Clinical Plasma Specimen
| Gene | Variant | AF | Location |
|---|---|---|---|
| RET | KIF5B-RET Fusion | 16.26% | chr10:32315666-chr10:43610485 |
| TP53 | R248G | 8.5% | chr17: 7577539 |
| TP53 | R181C | 6.7% | chr17: 7578389 |
Copy Number Variation
The ctDx platform has been validated down to 0.5% ctDNA fraction for the detection of copy number amplifications.
ERBB2 (HER2) CNV Clinical Plasma Specimen
| Gene | Variant | AF | Location | Ref/Alt |
|---|---|---|---|---|
| ERBB2 | Estimated 8.25 copies | |||
| TP53 | L257V | 12.3% | chr17: 7577512 | G / C |
| TP53 | M246MGGM | 0.7% | chr17: 7577542 | T / TCATGCCGCC |
MET CNV Clinical Plasma Specimen
| Gene | Variant | AF | Location | Ref/Alt |
|---|---|---|---|---|
| MET | Estimated 19.9 copies | |||