Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.
Fernanda J Martin,
Isabel M Saffie,
Mabel A Hurtado
et al.
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. … Show more
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