Abstract
PURPOSE: Understanding the epidemiological profile of young patients with breast cancer (BC) is crucial for devising effective control strategies. However, data on Brazilian patients with BC, particularly concerning the association with pathogenic germline mutations, are limited. This retrospective cross-sectional study seeks to shed light on the epidemiological and genetic profiles of young patients with BC in Brazil, with a specific focus on the correlation between germline mutations and clinical outcomes. METHODS: We analyzed medical records from two institutions in Minas Gerais, Brazil, focusing on young patients with BC diagnosed from January 2012 to December 2020. The collected variables included sociodemographic profile, tumor characteristics, mutational status, follow-up duration, and time from diagnosis to death. RESULTS: The findings highlight high rates of genetic mutations, more aggressive tumor characteristics, and the necessity for more radical surgical interventions in patients with mutations. CONCLUSION: In general, young patients with BC in Brazil present an unfavorable prognosis, emphasizing the need for early diagnosis and personalized treatment strategies.