Publications by authors named "Emily Modlin"
Article Synopsis
- Proteus syndrome (PS) is a rare disorder caused by a specific genetic mutation in the AKT1 gene, leading to abnormal growth patterns that typically emerge during early childhood.
- A 55-year-old woman with PS first exhibited symptoms at 19, including a type of skin growth, and later developed breast tumors that shared the same AKT1 mutation.
- The study also identified other genetic changes linked to tumor growth, suggesting a possible mechanism for how tumors develop in patients with PS, which broadens the understanding of this rare condition.
Purpose: Secondary findings (SFs) are present in 1-4% of individuals undergoing genome/exome sequencing. A review of how SFs are disclosed and what outcomes result from their receipt is urgent and timely.
Methods: We conducted a systematic literature review of SF disclosure practices and outcomes after receipt including cascade testing, family and provider communication, and health-care actions.