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

OBJECTIVES This review aims to bridge genomic insights with oncology nursing practice, promoting risk-informed care for patients with hereditary breast cancer (HBC). METHODS 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). RESULTS 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. CONCLUSIONS This review highlights the importance of integrating genomic findings into personalized care planning, genetic counseling, and patient education. IMPLICATIONS FOR NURSING PRACTICE 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.

• Publication year

  2025

• Venue

  Seminars in Oncology Nursing

• Publication date

  2025-11-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.soncn.2025.152054PMID 41207815
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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