Case Study: Andalusian Health Service achieves improved hereditary colorectal cancer detection with SOPHiA GENETICS

Andalusian Health Service identifies 3 MSH2 carriers using SOPHiA GENETICS

The Andalusian Health Service, through its reference laboratories at Hospitale Universitario Virgen de las Nieves and Clínico San Cecilio, faced the challenge of investigating a complex hereditary colorectal cancer case. They needed to identify a genetic mutation in a patient with a strong family history of cancer after initial immunohistochemistry results indicated microsatellite instability. To address this, they used the CE IVD-marked SOPHiA DDM™ Dx Hereditary Cancer Solution from SOPHiA GENETICS.

The solution from SOPHiA GENETICS successfully identified a novel, complex duplication in the MSH2 gene that had been missed by other methods. This finding allowed for the accurate classification of the variant as probably pathogenic and enabled a segregation study. The results had a direct, measurable impact, as three additional family members under the age of 50 were identified as carriers of the mutation, allowing them to be screened for increased cancer risk monitoring.

Andalusian Health Service