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:
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
|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|
|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
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