Patient DEMO-001

Samples received

SampleCollectedCancer fractionAnalysis completed
Plasma cfDNA27 Sep 202081%Prostate cancer panel

Somatic mutations

GeneMutationBiological effectAllele%
A → T
Stopgain p.K311X51.6%
C → A
Splice site79.1%
C → A
Stopgain p.E151X61.1%

Allele fraction is defined as the number of DNA fragments displaying the somatic mutation, divided by the total number of DNA fragments overlapping the position. Chromosomal coordinates refer to the hg38 reference genome.

Somatic copy number changes

The left-hand side of this visualization shows the relative quantity of DNA fragments originating from genes targeted by the panel. Genes with a coverage logratio less than -0.3 or greater than 0.3 are highlighted with color. The genes are ordered by genomic position. 95% confidence intervals are shown as horizontal whiskers.

The right-hand side shows the allele fractions of heterozygous SNPs found inside the genes. Each heterozygous SNP is shown as a black dot.

Androgen receptor copy number profile

This visualization shows the relative quantity of DNA fragments originating from different genomic loci surrounding the androgen receptor (AR) gene. Three different zoom levels are shown. In the top and middle panel, the AR enhancer and the AR gene body are highlighted in red. In the bottom panel, AR exons are highlighted in red. Chromosomal coordinates refer to the hg38 reference genome.

Genome-wide copy number profile

The top panel of this visualization shows the relative quantity of DNA fragments originating from 3000 evenly spaced regions across the genome. The bottom panel shows the allele fraction of heterozygous SNPs.

Somatic chromosomal rearrangements

Biological effectRepresentative DNA fragmentSupporting fragments

This table lists somatic chromosomal rearrangements identified through the presence of anomalous DNA fragments that contain sequence from two or more different genomic regions. Chromosomal coordinates refer to the hg38 reference genome.

Germline variants

GeneAlleleEffectPopulation frequency
G → C
Heterozygous missense p.H373Q. Likely benign.0.57%
C → CT
Heterozygous stopgain p.N1747*. Pathogenic.N/A
G → A
Heterozygous missense p.S58L. Benign.0.37%

This table shows all rare protein altering germline variants (population frequency < 0.5%) detected in this patient's genome.

About the prostate cancer panel

The Fluivia comprehensive prostate cancer assay detects somatic mutations, copy number changes, rearrangements and germline variants in 66 prostate cancer genes. The test can be used with circulating tumor DNA, fresh frozen cancer tissue, or FFPE cancer tissue. The assay interrogates all genes that are recurrently altered at the DNA level in prostate cancer, including genes related to hormonal signaling, steroid synthesis, cell cycle regulation, DNA repair, PI3K and WNT signaling. The panel provides a detailed view of genomic alterations at the androgen receptor (AR) locus, covering all AR exons and introns 3 - 7 to enable detection of intragenic rearrangements. The panel also interrogates the structure of AR locus amplifications using a high resolution (30 kb) probe grid. The assay also estimates a genome-wide copy number profile at 300 kb resolution, enabling absolute copy number quantification and detection of genome duplication events.

GeneAnalyzed regions
AKT1Coding regions
APCCoding regions
ARCoding regions + introns 3 - 7 + flanking regions
ARID1ACoding regions
ASXL1Coding regions
ATMCoding regions
ATRCoding regions
BRAFCoding regions
BRCA1Coding regions
BRCA2Coding regions
CCND1Coding regions
CDK12Coding regions
CDK4Coding regions
CDK6Coding regions
CDKN1BCoding regions
CDKN2ACoding regions
CHD1Coding regions
CHEK1Coding regions
CHEK2Coding regions
CTNNB1Coding regions
CYP11A1Coding regions
CYP17A1Coding regions
ERCC2Coding regions
FANCACoding regions
FANCCCoding regions
FANCD2Coding regions
FANCLCoding regions
FBXW7Coding regions
FOXA1Coding regions
FOXP1Coding regions
HSD3B1Coding regions
IDH1Coding regions
KDM6ACoding regions
KMT2CCoding regions
KMT2DCoding regions
KRASCoding regions
MDM2Coding regions
MDM4Coding regions
MED12Coding regions
METCoding regions
MLH1Coding regions
MSH2Coding regions
MSH6Coding regions
MYCCoding regions
NCOA2Coding regions
NKX3-1Coding regions
PALB2Coding regions
PIK3CACoding regions
PIK3CBCoding regions
PIK3R1Coding regions
PMS2Coding regions
POLECoding regions
PTENCoding regions
RAD51BCoding regions
RAD51CCoding regions
RAD51DCoding regions
RB1Coding regions
RNF43Coding regions
RYBPCoding regions
SMARCA1Coding regions
SPOPCoding regions
SRD5A2Coding regions
TERTPromoter region
TP53Coding regions
ZBTB16Coding regions
ZFHX3Coding regions
Whole genomeProbes tiled at 300 kb intervals for genome-wide copy number analysis