Hereditary Cancer Panel

A research-focused testing service targeting 129 genes associated with a predisposition for hereditary cancer in a single test

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The NGS panel has been specifically designed to identify key hereditary cancer copy number variations (CNVs), such as single exon BRCA1 and BRCA2 alterations and those associated with Lynch syndrome.

It also includes genes associated with uterine, prostate and gastrointestinal cancers as well as rarer hereditary cancers, such as Phaeochromocytoma and paediatric cancers like Wilms tumour, to enable comprehensive hereditary testing.

We are a UKAS accredited, ISO15189 approved, company with our laboratories based in Birmingham, UK, focused on providing a premium genomics service, with competitive turn around times.

 

Hereditary Cancer Test for Clinicians

Hereditary Cancer Detection for Research

 

DNA extraction

DNA extraction

Quality control

Quality control

Library preparation

Library preparation

NGS sequencing

NGS sequencing

Bioinformatics analysis

Bioinformatics analysis

Purpose
Type of test

DNA genetic test – panel of 129 genes associated with an increased risk of developing hereditary cancer

See full gene list
Sample type
  • Genomic (gDNA) and cell-free (cfDNA) DNA (10 – 200 ng)
  • Plasma
  • Whole blood
  • Saliva
Flexibility Full service flexibility – contact us to find the best solution for you
Technology
  • Next generation sequencing library preparation: Cell3™ Target Hereditary Cancer panel
  • Sequencing: Illumina sequencing platform
Indexing options
  • 384 indexing strategy
  • Unique dual indexing (UDIs) including unique molecular indexes (UMIs)
Bioinformatic analysis

Options:

  • fastp/FastQC
  • MultiQC reports
Data transfer

Secure cloud-based data transfer:

  • Secure data hosting in DNAnexus for easy retrieval via web portal or CLI
  • Hassle-free data transfer straight to your AWS (Amazon) S3 buckets
Ordering information Contact via the Informed Genomics contact form
Quality assurance UKAS accredited, and ISO15189 approved laboratories

 

How can Informed Genomics help your research into hereditary cancers?

The role of genetic testing for inherited mutations is invaluable in identifying those individuals at a higher risk of developing disease, as 5-10% of all cancers can be attributed to hereditary cancers.1

We support research in this area by providing an accessible, accurate, flexible hereditary pan-cancer testing service with the following benefits:

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Range of sample input options, including non-invasive saliva collection, enabling ease of patient participation into your studies

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Streamlined workflow – validate and run one workflow for all hereditary cancers regardless of cancer type and sample input amount or type

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Increase in diagnostic yield from a single test for individuals:

  • with a personal, or family, history of mixed cancers affecting multiple organ systems
  • or those with an unknown family history
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Call SNVs, indels and CNVs with high recall and precision

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Full flexibility to suit your research requirements – send us the blood/plasma/saliva sample, or extract the gDNA/cfDNA in your laboratory

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Bioinformatics support available

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Lower sequencing costs

  • 98% of targets are detected with only >30× coverage (78.1 Mb required for mean 100× coverage) due to efficient hybridisation and capture technology. This means we can sequence 50% more samples per flow cell, or generate more sequencing data per sample, than leading competitors pan-cancer NGS panels.2

Comprehensive gene panel information

The Cell3™ Target Hereditary Cancer Panel is a hybridisation and capture NGS panel designed to target germline mutations in 129 genes associated with an increased risk of developing hereditary cancer.

See the 129 gene panel list

 

DNA Helix

Technical validation

To demonstrate variant calling performance of the Cell3™ Target Hereditary Cancer panel, the precision and recall for single nucleotide variants (SNVs) and insertion-deletion mutations (indels) were tested alongside two competitor panels on commercially available reference standards containing multiple variants (Genome in a Bottle HG002; Seracare Seraseq® Inherited Cancer DNA Mix v1).

The hereditary cancer panel showed excellent recall for SNVs (Figure 1), and indels (Figure 2), with both higher than either of the competitors’ products.2

Figure 1: Cell3™ Target Hereditary Cancer Panel delivers a mean SNV recall of 99.78% across four replicates outperforming Company I and Company P.

A graph showing percentage recall

 

Figure 2: The Nonacus Hereditary Cancer Panel delivers the highest average indel recall outperforming Company I and Company P.

A graph showing average indel recall

CNV sensitivity validation

To evaluate the sensitivity of CNV genotyping with the Cell3™ Target Hereditary Cancer Panel, the panel was run using NIBSC Lynch Syndrome MLPA cell lines. All CNVs were detected with 100% recall and precision when using sex-matched control pools (Table 1).2

Table 1: shows the precision and recall for a range of CNVs in the MLH1/MSH2 Exon Copy Number Reference Panel (NIBSC) detected with the Cell3™ Target Hereditary Cancer panel, and Nonacus analysis pipeline. All CNVs were detected with 100% recall and precision.

CNV Genotypic Sex CNV Type Detected Recall Position
Copy normal male copy neutral YES 100% 100%
MSH2 deletion exons 1-6, heterozygous male multi-exon deletion YES 100% 100%
MSH2 deletion exon 7, heterozygous male single exon deletion YES 100% 100%
MSH2 deletion exons 1-2, heterozygous female multi-exon deletion YES 100% 100%
MSH2 deletion exon 1, heterozygous male single exon deletion YES 100% 100%
MLH1 exon 13 amplification (3 or more copies) female multi-exon deletion YES 100% 100%
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References

1. Ngeow J, Eng C. Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet. NPJ genomic medicine. 2016 Jan 13;1(1):1-3.

2. Nonacus. Nonacus Cell3 Target Hereditary Cancer Panel Datasheet_v1 https://nonacus.com/download/cell3-target-hereditary-cancer-panel-datasheet-v1/Published 2022. Accessed September 18, 2023.

Contact us to find out more about our Hereditary Cancer Panel

0121 227 5298

Unit 5,
Quinton Business Park
11 Ridgeway
Quinton
Birmingham
B32 1AF

info@informedgenomics.com