Publications by authors named "Nilson Moreira Cipriano"
Introduction: Deafness is the most frequent sensory deficit in humans. Incidence is estimated at 4:1000 births in Brazil. Specific programs for clinical care of patients with hearing loss are still scarce in Brazil and the issue is an important public health problem.
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- A study conducted in Minas Gerais, Brazil, investigates the mutation profile of BRCA1/2, CHEK2, and TP53 genes in patients at high risk for hereditary breast and ovarian cancer (HBOC).
- Researchers analyzed genes from 44 patients using advanced screening techniques and found 46 variants, including 8 pathogenic mutations—one of which is a new pathogenic BRCA1 mutation not previously identified in Brazil.
- The findings highlight a significant prevalence of pathogenic mutations in the studied cohort, indicating the need for tailored prevention and treatment strategies in Brazil's diverse population regarding cancer risks.