Colección SciELO Chile

Departamento Gestión de Conocimiento, Monitoreo y Prospección
Consultas o comentarios: productividad@anid.cl
Búsqueda Publicación
Búsqueda por Tema Título, Abstract y Keywords



Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review
Indexado
Scopus SCOPUS_ID:85190341889
DOI 10.3332/ECANCER.2024.1683
Año 2024
Tipo

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras


Abstract



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.

Revista



Revista ISSN
Ecancermedicalscience 1754-6605

Métricas Externas



PlumX Altmetric Dimensions

Muestra métricas de impacto externas asociadas a la publicación. Para mayor detalle:

Disciplinas de Investigación



WOS
Oncology
Scopus
Oncology
Cancer Research
SciELO
Sin Disciplinas

Muestra la distribución de disciplinas para esta publicación.

Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



Muestra la distribución de colaboración, tanto nacional como extranjera, generada en esta publicación.


Autores - Afiliación



Ord. Autor Género Institución - País
1 Martin, Fernanda J. - Fundación Arturo López Pérez - Chile
2 Saffie, Isabel M. - Fundación Arturo López Pérez - Chile
3 Hurtado, Mabel A. - Fundación Arturo López Pérez - Chile
4 Avila-Jaque, Diana Mujer Hospital San Juan de Dios - Chile
5 Lagos, Rodrigo Hombre Fundación Arturo López Pérez - Chile
6 Selman, Carolina A. - Fundación Arturo López Pérez - Chile
7 Huserman, Jonathan Hombre Hospital Base San José de Osorno - Chile
8 Castillo, Valentina A. - Hospital Clínico Universidad de Chile - Chile
Hospital Dr Sotero del Rio - Chile
9 Chahuan, Badir - Fundación Arturo López Pérez - Chile

Muestra la afiliación y género (detectado) para los co-autores de la publicación.

Financiamiento



Fuente
Sin Información

Muestra la fuente de financiamiento declarada en la publicación.

Agradecimientos



Agradecimiento
Sin Información

Muestra la fuente de financiamiento declarada en la publicación.