Case Study: Bioma Genetics uncovers hereditary breast cancer risk with SOPHiA GENETICS SOPHiA DDM

Bioma Genetics uncovers hereditary breast cancer risk in a 5-year-old with SOPHiA GENETICS

Bioma Genetics, a laboratory in Brazil, faced the challenge of identifying a hereditary cancer risk for a patient with a strong family history of breast cancer after an initial targeted genetic panel analysis using the SOPHiA DDM™ Custom Hereditary Cancer Solution from SOPHiA GENETICS returned no results.

SOPHiA GENETICS implemented a solution using their SOPHiA DDM™ Whole Exome Solution v2. This comprehensive analysis successfully identified a pathogenic mutation, which was confirmed to be hereditary. The result enabled proactive surveillance for the patient's young daughter who also carried the variant, significantly improving potential health outcomes through early intervention.

Bioma Genetics