Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.

ABSTRACT: Brazil is the largest country in South America and the most genetically heterogeneous. The aim of the present study was to determine the prevalence of germline pathogenic variants (PVs) in Brazilian patients with breast cancer (BC) who underwent genetic counseling and genetic testing at a tertiary Oncology Center. We performed a retrospective analysis of the medical records of Brazilian patients with BC referred to genetic counseling and genetic testing between August 2017 and August 2019. A total of 224 unrelated patients were included in this study. Premenopausal women represented 68.7% of the cohort. The median age at BC diagnosis was 45 years. Multigene panel testing was performed in 219 patients, five patients performed single gene analysis or family variant testing. Forty-eight germl

SUBMITTER: Sandoval RL 

PROVIDER: S-EPMC7895369 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature