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Am J Surg ; 228: 218-221, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37863802

RESUMO

BACKGROUND: NCCN Guidelines recommend screening young women with an increased breast cancer risk (>20 â€‹% lifetime risk). We sought to evaluate our institutional rates of high-risk screening in young breast cancer patients prior to their diagnoses." METHODS: A single-institution retrospective review (2013-2018) was performed investigating risk scores (Tyrer-Cuzick model) and characteristics of breast cancer patients (age <40 â€‹y) prior to diagnosis. RESULTS: 92 breast cancer patients age <40 â€‹y were identified (average age 34.5). Only 3.3 â€‹% (n â€‹= â€‹3) underwent appropriate screening, despite 35.8 â€‹% meeting high-risk criteria. Nearly all patients underwent genetic testing (98.9 â€‹%) with pathogenic mutations identified in 36.5 â€‹%, including 15.3 â€‹% with BRCA1/2 mutations. CONCLUSIONS: This analysis highlights a significant discrepancy between those meeting criteria for high-risk screening and those who underwent appropriate screening. We identified that this cohort carries significant genetic burden. Future analysis should investigate these findings on a broader scale and strategies to improve screening.


Assuntos
Neoplasias da Mama , Humanos , Feminino , Adulto , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Proteína BRCA1/genética , Medição de Risco , Proteína BRCA2/genética , Detecção Precoce de Câncer , Testes Genéticos , Predisposição Genética para Doença
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