Case Study – Hospitale Universitario Virgen de las Nieves and Clínico San Cecilio

Challenge

Hereditary Cancer

Solution

SOPHiA DDM™ Dx Hereditary Cancer Solution

Country

Spain

The Andalusian Health Service use the CE IVD-marked SOPHiA DDM™ Dx Hereditary Cancer Solution to detect an Alu insertion (Clinical Decision Support Only) in an ovarian cancer case.

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The Genetics Laboratories at the Hospitale Universitario Virgen de las Nieves and Clínico San Cecilio in Granada, Spain are affiliated with the Andalusian Health Service (Servicio Andaluz de Salud) and act as reference laboratories for the Andalusian Region, primarily investigating inherited diseases and assessing hereditary cancers. The laboratories receive and analyze hereditary cancer samples from a 1.5-million-person reference population across Granada and Huelva, assessing approximately 1000 samples per year.

Clinical research case

A 60-year-old patient was diagnosed with stage IIIC serous ovarian carcinoma and treated with chemotherapy and surgery. When aged 63, a sample was taken from the patient for genetic testing to evaluate suitability for treatment with a new PARP inhibitor. The patient’s family history included a father who died of prostate cancer at age 77, a cousin who died of lung cancer at age 45, an uncle with larynx cancer, three healthy brothers, and a healthy daughter.

Approach

The CE IVD-marked SOPHiA DDM™ Dx Hereditary Cancer Solution v1.1 (HCS v1.1) was utilized to assess the sample.

Through a collaboration between SOPHiA GENETICS and MSK, MSK-ACCESS® will be available to more people via the decentralized, technology agnostic SOPHiA DDM™ Platform. The Platform’s cloud-based analysis, interpretation and reporting workflow streamlines locally performed analysis, allowing labs to retain control of their data and samples.

Results

The application detected an Alu insertion in BRCA2 with 50% variant frequency: NM_000059(BRCA2):c.2197_2198ins157 (p.Val733Glyfs*22). Validation of the result with Sanger sequencing yielded confounding results – a low proportion of alignments were detected, as if it was a somatic mutation (mosaicism). These findings had both clinical and hereditary implications. Ultimately, they guided the decision that the patient was eligible to start treatment with the PARP inhibitor olaparib. The germline mutation also supported their decision to carry out genetic counselling and cascade testing of the patient’s daughter using HCS v1.1.

“The SOPHiA DDM™ Platform enables us to quickly and confidently assess ~1000 hereditary cancer samples per year. For example, through the SOPHiA DDM™ Dx Hereditary Cancer Solution powered by the SOPHiA DDM™️ Platform, we accurately identified a complex pathogenic Alu insertion in BRCA2 that was not clearly detected by Sanger sequencing”, says Dr. Antonio Poyatos, Hospitale Universitario Virgen de las Nieves and Clínico San Cecilio, Granada, Spain

Watch our SOPHiA GENETICS Product Manager Paul Dougall present this case study at the American College of Medical Genetics (ACMG) Annual Meeting

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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.

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