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Cancer Survival Analysis01:21

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Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
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  11. Regional Hereditary Cancer Program In Chile: A Scalable Model Of Genetic Counseling And Molecular Diagnosis To Improve Clinical Outcomes For Patients With Hereditary Cancer Across Latin America.
  1. Home
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  11. Regional Hereditary Cancer Program In Chile: A Scalable Model Of Genetic Counseling And Molecular Diagnosis To Improve Clinical Outcomes For Patients With Hereditary Cancer Across Latin America.

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Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America.

Natalia Landeros1,2,3, Laura Vargas-Roig4,5, Silvina Denita6

  • 1Unidad de Innovación en Prevención y Oncología de Precisión Centro Oncológico, Facultad de Medicina, Unidad de Innovación en Prevención y Oncología de Precisión Universidad Católica del Maule, Talca, 3480094, Chile.

Biological Research
|December 22, 2024

View abstract on PubMed

Summary
This summary is machine-generated.
Keywords:
Breast cancerCancer genetic counselingMultigene panel testingPathogenic variations

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Chile

Area of Science:

  • Oncology
  • Genetics
  • Public Health

Background:

  • Breast cancer is a major global health concern, with hereditary factors playing a significant role.
  • Chile faces challenges in providing genetic counseling and testing, especially in public healthcare.
  • This study details the first regional hereditary cancer program in Chile's Maule region.

Purpose of the Study:

  • To implement and evaluate a hereditary cancer program in Chile's public health system.
  • To improve the detection and management of hereditary breast cancer.
  • To address gaps in genetic services within the Maule region.

Main Methods:

  • 48 high-risk breast cancer patients received genetic counseling and multigene panel testing.
  • Utilized telemedicine and outsourced sequencing analysis to overcome regional limitations.
Variants of uncertain significance
  • A collaborative model involving multiple institutions was employed.

    • Main Results:

    • Pathogenic variants were found in 12% of patients, including in BRCA1, BRCA2, TP53, and PALB2.
    • Novel pathogenic variants in BRCA1 and TP53 were identified in the Chilean population.
    • 70 variants of uncertain significance were detected, emphasizing the need for further research.

    Conclusions:

    • The Regional Hereditary Cancer Program successfully addressed gaps in genetic services within Chile's public health system.
    • This scalable model facilitates early detection and personalized treatment for hereditary cancer.
    • The program serves as a potential model for other Latin American regions.