We spoke with Dr. Rafael Malagoli, CEO of Bioma Genetics Laboratory in São Paulo, Brazil, about a remarkable case that highlights the importance of persistence and comprehensive genetic analysis in hereditary breast cancer care. Using SOPHiA DDM™ hereditary cancer and exome solutions, Rafael and his team were able to uncover a crucial genetic finding that changed a family’s future.

Watch the interview:

Initial investigation

A 42-year-old Black woman from Rio de Janeiro was diagnosed with an aggressive micropapillary, grade 3 triple-negative breast cancer. Given her young age and strong family history — her mother and maternal grandmother had both been affected by breast cancer — Bioma Genetics performed genetic analysis using a SOPHiA DDM™ Custom Hereditary Cancer Solution, covering 144 genes.

To the team’s surprise, no pathogenic variants were detected in the initial investigation. However, given the patient's clinical presentation and family background, the team and her oncologist agreed that further analysis was warranted.

Deeper analysis with whole exome sequencing

The patient was invited for an additional round of testing using SOPHiA DDM™ Whole Exome Solution v2. An oral swab sample was collected, and the sequecing data was carefully analyzed in the SOPHiA DDM™ Platform.

Through this comprehensive approach, a pathogenic mutation associated with hereditary breast cancer was identified. Further targeted testing confirmed that the patient’s mother also carried the same mutation, establishing a hereditary link.

Impact on family management

During follow-up discussions, the team learned that the patient had a five-year-old daughter. Genetic testing revealed that the child also carried the pathogenic variant.

With early knowledge of her genetic risk, the family and healthcare providers can initiate proactive surveillance and preventive strategies from a young age — long before the typical age for routine breast cancer screening. This early intervention has the potential to significantly improve health outcomes.

This case emphasizes the importance of expanding genetic testing strategies, particularly in underserved populations where hereditary cancers may present differently, and where conventional panel-based approaches may not always be sufficient.

Note: Breast cancer in Black women often presents at younger ages and is associated with higher mortality rates¹, underscoring the need for personalized genetic screening strategies.

Click through to learn more about SOPHiA DDM™ hereditary cancer and exome solutions.

References:

1. Reid, S., et al. Disparities in Genetic Testing and Care Among Black Women with Hereditary Breast Cancer. Curr Breast Cancer Rep 12, 125–131 (2020). DOI: 10.1007/s12609-020-00364-1

SOPHiA DDM™ is for Research Use Only (RUO), not for use in diagnostic procedures unless otherwise specified. Clinical interpretation and patient management decisions are the sole responsibility of qualified healthcare professionals. Patient case shared with permission and anonymized for educational purposes.