Regional Hereditary Cancer Program in Chile
Author Information
Author(s): Landeros Natalia, Vargas-Roig Laura, Denita Silvina, Mampel Alejandra, Hasbún Rafael, Araya Hernán, Castillo Iván, Valdes Camila, Flores Marcela, Salter Juan Salgado, Vasquez Katherin, Romero Jacqueline
Primary Institution: Universidad Católica del Maule
Hypothesis
Can a regional hereditary cancer program improve genetic counseling and molecular diagnosis for patients with hereditary cancer in Chile?
Conclusion
The program successfully identified pathogenic variants in 12% of patients, improving access to genetic counseling and testing.
Supporting Evidence
- 12% of patients had pathogenic or likely pathogenic variants identified.
- Novel pathogenic variants in BRCA1 and TP53 were discovered.
- The program provided high-quality care within the public health system.
Takeaway
This study shows that a special program in Chile helped find genetic problems in people with breast cancer, making it easier for them to get the help they need.
Methodology
Patients received genetic counseling and underwent Next-Generation Sequencing multigene panel testing.
Limitations
The study is limited to a specific region in Chile and may not be generalizable to other populations.
Participant Demographics
91.6% female, average age at diagnosis 42 years, 63% had a family history of cancer.
Digital Object Identifier (DOI)
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