New Research on Ovarian Cancer Reveals Improved Outcomes through Precision Medicine

Researchers at the Federal University in Brazil have developed a specialized care program for hereditary cancer patients, aiming to provide accessible and precise medical treatment through a structured care flow. The program, designed to identify suspected cases, provides genetic counseling, psychological support, and clinical follow-up. Financial support for this research came from the FundacaO De Amparo A Pesquisa Do Estado De Minas Gerais and other organizations. The study focused on a cohort of 210 patients with suspected Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and found that 33.3% of patients carried pathogenic or likely pathogenic variants, with 14.3% involving non-BRCA genes.

Key Takeaways:

• The Hereditary Cancer Predisposition Assessment and Family Monitoring Program was developed to provide specialized care for hereditary cancer patients in the southeast of Brazil.
• The program aimed to implement accessible precision medicine approaches for hereditary cancer syndromes and offered genetic counseling, psychological support, and clinical follow-up to patients.
• A total of 210 patients with suspected HBOC were systematically genetically screened, and pathogenic or likely pathogenic mutations were identified in 33.3% of cases.
• BRCA2 was the most frequently mutated gene, in contrast to most reports from Brazil where BRCA1 predominates.
• The study found that 12.8% of patients with pathogenic or likely pathogenic variants had mutations in genes associated with hereditary cancer syndromes other than HBOC.
• A total of 35 variants of uncertain significance were identified, most commonly in the ATM gene.
• The research concluded that precision medicine strategies can be implemented to improve outcomes for patients and their families by identifying pathogenic mutations.

Statistics:

• 210 patients with suspected Hereditary Breast and Ovarian Cancer Syndrome (HBOC) were included in the study.
• 33.3% (70/210) of patients carried pathogenic or likely pathogenic variants.
• 14.3% (30/210) of patients with pathogenic or likely pathogenic variants involved non-BRCA genes.
• BRCA2 was the most frequently mutated gene, present in 8.57% of positive cases.
• 12.8% of patients with pathogenic or likely pathogenic variants had mutations in genes associated with hereditary cancer syndromes other than HBOC.

Sources:

• Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population. Scientific Reports, 2025, 15(1):1-10.
• FundacaO De Amparo A Pesquisa Do Estado De Minas Gerais
• FundacaO CoordenacaO De Aperfeicoamento De Pessoal De Nivel Superior
• Universidade Federal De SaO JoaO Del-rei