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| DOI | 10.3332/ECANCER.2024.1683 | ||
| Año | 2024 | ||
| Tipo |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Purpose: The aim was to assess the diagnostic yield of next generation sequencing (NGS) multi-gene panels for breast and ovarian cancer in a high-complexity cancer centre in Chile. Additionally, our goal was to broaden the genotypic spectrum of BRCA variants already identified in Chilean families. Methods: Retrospective analysis was conducted on the genetic test results of 722 individuals from Fundación Arturo López Pérez's genetic counselling unit between 2016 and 2021. A comprehensive literature review encompassing articles analysing the frequency of germinal pathogenic variants in BRCA1/2 within the Chilean population was undertaken. Results: 23.5% of the panels had positive results, with 60% due to pathogenic variants in the BRCA1/2 genes. Seven previously unreported variants in BRCA1 from Chilean studies were identified. One or more variants of uncertain significance were detected in 31% of the results, and 11.5% of the families in this cohort presented copy number variants (CNVs) in BRCA1/2. 8 studies analysed the frequency of pathogenic variants in BRCA1/2 in the Chilean population between 2006 and 2023, with a frequency between 7.1% and 17.1%. 51 BRCA1 variants in 149 families have been reported in Chile and 38 BRCA2 variants in 132 families. Nine founder pathogenic variants identified by one study were present in 51.9% of the total Chilean families reported. Conclusion: Our findings advocate for the integration of NGS multi-gene panel testing as a primary strategy within our population. This approach allows for the comprehensive assessment of single nucleotide variants and CNVs in BRCA1/2, alongside other high and moderately penetrant genes associated with breast and ovarian cancer.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Martin, Fernanda J. | - |
Fundación Arturo López Pérez - Chile
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| 2 | Saffie, Isabel M. | - |
Fundación Arturo López Pérez - Chile
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| 3 | Hurtado, Mabel A. | - |
Fundación Arturo López Pérez - Chile
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| 4 | Avila-Jaque, Diana | Mujer |
Hospital San Juan de Dios - Chile
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| 5 | Lagos, Rodrigo | Hombre |
Fundación Arturo López Pérez - Chile
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| 6 | Selman, Carolina A. | - |
Fundación Arturo López Pérez - Chile
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| 7 | Huserman, Jonathan | Hombre |
Hospital Base San José de Osorno - Chile
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| 8 | Castillo, Valentina A. | - |
Hospital Clínico Universidad de Chile - Chile
Hospital Dr Sotero del Rio - Chile |
| 9 | Chahuan, Badir | - |
Fundación Arturo López Pérez - Chile
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