Genomic Instability in Hereditary Breast Cancer: Clinical and Nursing Implications for Risk Assessment and Targeted...

This review aims to bridge genomic insights with oncology nursing practice, promoting risk-informed care for patients with hereditary breast cancer (HBC).

This study reviewed publications from 2018 to 2024, searching PubMed, CINAHL, and Cochrane under PRISMA guidelines. It systematically reviews GI, emphasizing sporadic and hereditary breast cancer (BC), including BRCA1/2-related hereditary breast and ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome (TP53 mutations), and Lynch syndrome (MSI-driven BC).

Key genomic alterations such as TP53, BRCA1/2, and BCL2 mutations were found across various BC subtypes, including triple-negative, HER2-positive, and hormone receptor-positive tumors. Given the hereditary nature of some BC cases, genetic testing is crucial for risk assessment and early intervention, particularly as part of personalized screening protocols. Inhibiting these pathways with BCL2 inhibitors, PARP inhibitors for BRCA-mutated tumors, and immune checkpoint inhibitors for MSI-high tumors represents a promising therapeutic strategy.

This review highlights the importance of integrating genomic findings into personalized care planning, genetic counseling, and patient education.

Oncology nurses play a central role in applying genomic knowledge in patient care. They support informed decision-making regarding genetic testing, encourage adherence to surveillance protocols, monitor patients on targeted therapies, and advocate for equitable access to genetic services.