Family history and genomic testing for cancer predisposition help optimizing initial patient care and treatment decisions.
The Hereditary Cancer Solution (HCS) by SOPHiA GENETICS detects genetic susceptibility to breast and ovarian cancer, HNPCC and intestinal polyposis syndromes. Entrusted by hundreds of healthcare institutions, it has already helped diagnose over 40K patients worldwide. 

 

The HCS is a molecular diagnostic application that bundles a capture-based target enrichment kit with the analytical power of SOPHiA™ AI and full access to the SOPHiA DDM® platform, an intuitive user interface facilitating variants visualization and interpretation.

 

Benefits of the solution:

 

Comprehensive
Detection of all types of genomic alterations (i.e SNVs, Indels and CNVs) in 26 relevant genes associated with hereditary cancers
Accurate
Clinical grade analytical performance
Flexible
Compatible with market-leading sequencing platforms without impact on performance. The gene panel can also be adapted according to experts' needs
Automated
The library preparation step can be fully automated, for high throughput needs, without impacting data quality
Technical specifications
Gene panel ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL(1), PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, XRCC2
Sample source Blood
Input 200ng
Total hands-on time 8 hours
Sequencers Illumina and Thermo Fisher Scientific sequencing platforms
Clinical-grade performance • Specificity: 100%
• Sensitivity: 100%
• Accuracy: 100%
• Reproducibility: 99.98%
• Repeatability: 99.93%

(1) The pseudogene PMS2CL is part of the analysis but not a gene responsible for diseases

Testimonial

We have found everything there was to find. I am impressed that SOPHiA got the analysis right the first time and could find all the variants and CNVs in a selection of difficult and diverse patients’ samples. Thanks to SOPHiA, we are now able to detect the ALU insertion in the exon 3 of BRCA2 gene

Dr. Pascale Hilbert, Director of Molecular Biology Department
at IPG - Institute of Pathology and Genetics in Gosselies