Hereditary Breast And Ovarian Cancer Syndrome (HBOC)

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07/04/23

Recurrent breast cancer caused by a BRCA2 gene mutation.

Health Nucleus helped a female patient with recurrent breast cancer to identify a BRCA2 variant. The identification of the BRCA2 variant assist the clinical diagnosis of hereditary breast and ovarian cancer syndrome (HBOC) in this patient. Risks for people with BRCA2 variants include breast, ovarian, pancreatic, prostate, and melanoma cancer.

HN's Chief Medical Officer, C. Thomas Caskey, MD, FACP, FACMG, FRSC, explains how to extend a single diagnosis to identify six family member who are at risk. HLI was able to reach out to the patient and patient’s family members and have these patients under care for disease prevention. Targeted therapies such as Olaparib (Lynparza) and talazoparib (Talzenna) are available for patients with BRCA mutations.

“Health Nucleus—where early detection and preventative care can help reduce long-term health risks to help you live a longer, healthier life.”

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