Variants in in a Hospital-based Cohort in Chile and National Literature Review

Overview

Journal Ecancermedicalscience

Specialty Oncology

Date 2024 Apr 3

PMID 38566764

Authors

Fernanda J Martin

Isabel M Saffie

Mabel A Hurtado

Diana Avila-Jaque

Rodrigo A Lagos

Carolina A Selman

Jonathan Z Huserman

Valentina A Castillo

Badir J Chahuan

Affiliations

Soon will be listed here.

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 within the Chilean population was undertaken.

Results: 23.5% of the panels had positive results, with 60% due to pathogenic variants in the genes. Seven previously unreported variants in 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 .8 studies analysed the frequency of pathogenic variants in in the Chilean population between 2006 and 2023, with a frequency between 7.1% and 17.1%.51 variants in 149 families have been reported in Chile and 38 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 , alongside other high and moderately penetrant genes associated with breast and ovarian cancer.

Citing Articles

Risk Factors for Ovarian Cancer in South America: A Literature Review.

Jara-Rosales S, Gonzalez-Stegmaier R, Rotarou E, Villarroel-Espindola F J Pers Med. 2024; 14(9).

PMID: 39338246 PMC: 11433525. DOI: 10.3390/jpm14090992.

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