Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
Cesar Augusto B DuarteCarlos Alberto Dos SantosCristine Domingues D de OliveiraCleverton César SpautzLaura Masami SumitaSueli Massumi NakataniPublished in: Molecular genetics & genomic medicine (2024)
BRCA2 c.3482dup, a novel candidate pathogenic variant, previously unpublished, is reported. The prevalence of pathogenic variants in this small cohort is similar to that described in the literature. All different library preparation methods were equally proficient in enabling the detection of these variants.