Oncology

Oncology

ONCOLOGY

Clinical oncology is increasingly adopting next-generation sequencing (NGS) in response to the growing number and type of biomarkers that require rapid assessment. This is thanks to complete solutions and artificial intelligence platforms for the analysis and record of variants and profiles (oncogenomics).

SOPHiA GENETICS offers quality solutions with reproducible results that speed up the analysis of cancer-related variants, alongside Next-Generation Sequencing.

SOPHIA™ SOLID TUMOR SOLUTIONS

These solutions allow an advanced internal analysis of various kinds of complex variants. The algorithm-based capabilities of the SOPHiA DDM™ platform detect the following in a precise manner:

  • Single Nucleotide Variants (SNV).
  • Insertions and deletions (Indels).
  • Copy Number Variants (CNV).
  • Tumor Mutational Burden and Microsatellite Instability (TMB, MSI).

SOLID TUMOR SOLUTIONS (STS and STS Plus)

SOPHiA Solid Tumor Solution (STS) and SOPHiA Solid Tumor Plus Solution (STS Plus) cover forty-two genes associated with solid tumors, such as lung, colorectal, skin, and brain cancers from DNA extracted from frozen or paraffin-embedded samples. Both solutions enable accurate detection of SNVs, Indels, and CNVs in addition to Microsatellite Instability (MSI) status. Also, SOPHiA STS Plus offers more insights by also targeting 137 fusion genes.

  • High on-target rate throughout the entire target region.
  • High coverage uniformity, ensuring accurate variant detection (SNVs, Indels, CNV, MSI, and gene fusions).
  • Ready-to-use target-enriched libraries generated in just 1.5 days for DNA and 6 hours for RNA.
  • Customizable content to perfectly meet the unique needs of each research laboratory.
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WHAT DO WE OFFER?

The NGS solutions include a capture-based target enrichment kit, as well as the functionality and analytical capabilities of the SOPHiA DDM™ platform for data interpretation.

Both solutions provide a streamlined sample-to-report workflow that accelerates variant assessment while ensuring confidence in your results.

HEREDITARY CANCER SOLUTION (HCS)

SOPHiA GENETICS' Hereditary Cancer Solution (HCS) kit is designed for the identification of germline mutations and variants in twenty-seven genes involved in several hereditary cancers by NGS. In addition, it allows the detection of SNVs, Indels, and CNVs, as well as ALU insertions.

  • Hereditary Breast and Ovary Cancer: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FAM 175A, MRE11A, NBN, PALB2, PIK3CA, RAD50, RAD51C, RAD51D, TP53 y XRCC2.
  • Lynch Syndrome: EPCAM, MLH1, MSH2, MSH6, PMS2 y PMS2CL.
  • Intestinal Polyposis Syndrome: MUTYH, PTEN y STK11.
  • Familial adenomatous polyposis: APC.
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HEREDITARY

FAMILY

SPORADIC

Hereditary causes account for 10% of cancer cases, and an estimated 20% of cancer patients have a family history of cancer.

WHAT DO WE OFFER?

Hereditary cancers are caused by germline mutations in specific genes that are transmitted between generations, which increases the susceptibility to cancer. The identification of these mutations is important so that patients can benefit from effective early detection and prevention measures.

The kit uses NGS capture technology and is intended for Illumina platforms. The results are interpreted in the SOPHiA DDM platform, designed for the analysis and protection of NGS clinical data in routine diagnosis.

HOMOLOGOUS RECOMBINATION DEFICIENCY SOLUTION (HRD)

SOPHiA DDM HRD Solution combines information from germline and somatic HRR mutations (including BRCA1 and BRCA2) with a measure of genomic scarring. Accelerate and empower clinical cancer research decisions with cost-effective, dependable, and timely in-house results. In addition, it allows the detection of SNVs and Indels, as well as ALU insertions. This is a capture-based kit of NGS technology, and it is intended for use on illumina platforms only.

  • Easily and reliably assess HRD status with novel algorithms.
  • Reduce turnaround time and costs with a comprehensive 2-in-1 solution.
  • Decentralized workflow, retaining ownership of all data.
  • Identify mutations in 28 HRR genes and measure genomic scarring in a single solution.
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Recombinacion_Homologa

SOPHiA HRD VERSIONS

Besides the full solution, there is a smaller HRD version for those interested in breast and ovarian cancer. SOPHiA mini–Homologous Recombination Solution covers the coding regions and splicing junctions (± 25 bp min) of 4 genes, such as:

  • BRCA1
  • BRCA2
  • RAD51C
  • TP53

HRD IMPACT

SOPHiA DDM HRD Solution leverages low-pass WGS in conjunction with a convolutional neural network-based deep learning algorithm to produce the Genomic Integrity Index. This provides:

An extent of genomic scarring is because of HRR mutations across the entire genome.
An accurate and sensitive method for determining the HRD status of a tumor sample.

OncoPortal

SOPHiA DDM™ integrates the OncoPortal, a decision support functionality based on precision medicine intelligence. It enables experts to access relevant therapeutic, prognostic, and diagnostic information to help determine the actionability and clinical significance of detected genomic alterations.

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