Menu
close
Menu
close
Menu
close
Menu
close
Menu
close
Menu
close

SOPHiA DDM™ 
for Hereditary Cancers

Taking on tomorrow with powerful insights
Simplify complex germline gene mutation analysis for hereditary cancers with guideline-driven, automated applications that meet your specific needs.
Home breadcrumb-arrow SOPHiA DDM™ for Genomics breadcrumb-arrow Hereditary Cancers
OVERVIEW

Precision can unlock prevention

Approximately 5–10% of cancer cases are hereditary 1, making genetic testing for inherited germline mutations crucial for improved care. Next-generation sequencing (NGS) enables specialists to rapidly analyze cancer risk-related genes, paving the way for optimized testing and prevention strategies.

Reveal hereditary cancer risks

SOPHiA DDM™ for Hereditary Cancers accelerates germline mutation analysis for diverse cancer types to empower researchers with a comprehensive view of complex variants.
Combined seamlessly with Alamut™ Visual Plus for visualization, in-depth annotation, and interpretation, the powerful algorithms of SOPHiA DDM™ transform vast data into actionable insights to guide informed decision-making.

Easily navigate complex analysis

SOPHiA DDM™ for Blood Cancers simplifies analysis of genomic drivers in hematological cancers using the trusted analytical performance and advanced features of the SOPHiA DDM™ platform.
Streamline raw genomic data analysis to precisely detect, annotate, and prioritize even the most complex blood cancer variants.

Optimize your route to insights

Hereditary Cancer Solutions

Characterize the complex mutational landscape of hereditary cancer disorders with targeted IVD and RUO NGS-based applications.

BRCA Mutations

Focus on targeted sequencing of BRCA1 and BRCA2 mutations to identify genetic predisposition to hereditary breast and ovarian cancers.

Community Hereditary Cancer Solutions

Our Community Hereditary Cancer Solutions are NGS-based applications, developed with and for experts like you to accurately analyze key variants covering multiple hereditary cancers.
KEY FEATURES

Accelerate your path to prevention

Confidently assess mutation profiles across diverse cancer types with our comprehensive, guideline-driven portfolio of ready-to-use and customizable applications. Go from sample to report within a single workflow, leveraging insights supported by curated scientific databases and the collective knowledge of our community.
Propel genomic discovery using analytically verified applications that harness proprietary algorithms to simplify the detection of signature genetic mutations, including Alu insertions, Boland inversions, and pseudogenes.
Generate insights internally with community-curated solutions, designed by like-minded experts and with the flexibility to be tailored to your local needs and specificities.
Futureproof your germline analysis workflows with advanced analytics for any laboratory, from any size dataset, for any hereditary cancer.
WORKFLOW

Speed up your germline sequencing journey

Streamline your hereditary cancer analysis workflow, from sample to customized report.
Flexible and scalable library preparation

Use one universal, automatable protocol for robust sequencing across applications.

Accurate variant detection and annotation

Detect SNVs/Indels, CNVs, Alu insertions, Boland inversions, and pseudogenes.

Efficient variant curation

Reveal previously overlooked variants with the Alamut™ Visual Plus full genome browser.

Customizable reporting

Clearly summarize key variants and supporting information in tailored reports.

You won’t be left alone.
Enjoy comprehensive support at every step through the SOPHiA DDM™ MaxCare Program, making in-house adoption a breeze.
ANALYTICS

Turning data into insights

Uncover challenging variants in your germline mutation analysis with the powerful algorithms of the SOPHiA DDM™ Platform.

Precise Alu insertion detection

Reliable Boland inversion identification

Clear PMS2/PMS2CL visualization

Sensitive SNV and Indel detection

Accurate CNV calling

Robust variant annotation

Gene rearrangements caused by Alu elements are implicated in several genetic diseases and cancers.2 Normally, Alu elements create insertions of ~300bp long that cannot be fully covered by a single sequencing read.3 SOPHiA DDM™ harnesses the “soft-clipping” signals (mismatched reads) to accurately detect and annotate different types of Alu insertions.
Technology Principles
SOPHiA DDM™ supports identification of an inversion of exons 1-7 in the MSH2 gene. This change, known as Boland inversion, is a frequent cause of unexplained Lynch Syndrome. Our probe design enables the amplification of the Boland inversion for reliable detection by SOPHiA DDM™.
Technology Principles
The detection of germline variants in PMS2 is complicated by the presence of pseudogenes.4 Through a specific gene-conversion add-on, SOPHiA DDM™ shows variants that are PMS2 gene-like or PMS2CL pseudogene-like in highly homologous and polymorphic regions (i.e. exon 11-15 of PMS2 and corresponding exons of PMS2CL).
Technology Principles
Our sophisticated SNV and Indel calling technology implements relevant analytical modules tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 17 blood samples, the SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.0 achieved 100% sensitivity for SNV and Indel calling, 100% precision for SNV calling, and 98.5% precision for Indel calling.
Technology Principles
Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. In an analysis of 11 blood samples, the SOPHiA DDM™ HCS v2.0 achieved 100% sensitivity for CNV calling.
Technology Principles
Our robust annotation algorithm retrieves information from curated databases and uses de novo predictions to establish the likely effects and pathogenicity of genetic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.
Technology Principles

SOPHiA DDM™ for Hereditary Cancers

Taking on tomorrow with accurate hereditary cancer insights.
APPLICATION

Select the right solution for your lab

Accurately characterize the complex mutational landscape associated with major hereditary cancer disorders using our RUO, IVD, or community solutions.

Community Solutions for Hereditary Cancers

Accelerate your analysis with expertly-designed NGS-based applications.

References

  1. Hart SN, Polley EC, Yussuf A, et al. Mutation prevalence tables for hereditary cancer derived from multigene panel testing. Hum Mutat. 2020;41(8):e1–e6.
  2. Kim S, Cho CS, Han K, Lee J, et al. Structural Variation of Alu Element and Human Disease. Genomics Inform. 2016;14(3):70–77.
  3. David M, Mustafa H, Brudno M. Detecting Alu insertions from high-throughput sequencing data. Nucleic Acids Res. 2013;41(17):e169.
  4. Vaughn CP, Robles J, Swensen JJ, et al. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Hum Mutat. 2010;31(5):588-93.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.

SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.

SOPHiA DDM™ Overview
SOPHiA DDM™ for Genomics
SOPHiA DDM™ for Radiomics
SOPHiA DDM™ for Multimodal
Professional Services
SOPHiA DDM™ Overview
Unlocking Insights, Transforming Healthcare
Learn About SOPHiA DDM™ 
SOPHiA DDM™ for Genomics

Oncology 

Rare and Inherited Disorders

Add-On Modules

SOPHiA DDM™ for Radiomics
Unlock entirely novel insights from your radiology images
Learn About SOPHiA DDM™ for Radiomics 
SOPHiA DDM™ for Multimodal
Explore new frontiers in biology and disease through novel insights
Learn About SOPHiA DDM™ for Multimodal
Professional Services
Accelerate breakthroughs with our tailored enablement services
Learn About our Professional Services