Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel <i>BRCA2</i> candidate pathogenic variant is reported
BRCA2 c.3482dup, a novel candidate pathogenic variant, previously unpublished, is reported.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.
Authors
- César Augusto Barros Duarte (ORCID: https://orcid.org/0009-0004-8864-3357)
- C. A. M. dos Santos (ORCID: https://orcid.org/0000-0003-4552-373X)
- Cléverton Spautz (ORCID: https://orcid.org/0000-0002-2828-8419)
- Cristine Domingues D. de Oliveira
- Sueli Massumi Nakatani
- Laura Masami Sumita
Institutions
- Hospital Nossa Senhora das Graças (BR)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-08-01
- DOI
- https://doi.org/10.1002/mgg3.2504
- Citations
- 4
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 2.20