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PMID: 41978872 已发表 · ppublish 英语

Genetic Testing in Breast Cancer: Narrative Review and Clinical Insights.

Maedica ·第 21 卷 ·第 1 期 ·2026-03-00

Bistriceanu I, Ungureanu CO, Stoica RA, Giuglea C, Grigorean VT, Roca D, Mihaila R, Iordache N, Ginghina O

摘要

Identifying hereditary breast cancer is increasingly important, as germline pathogenic variants not only influence lifetime cancer risk but also guide surveillance, preventive strategies and targeted treatments. While breast cancer genes (BRCA1 and BRCA2) remain central to hereditary breast and ovarian cancers, progress in cancer genetics has shifted clinical practice toward broader multigene testing approaches. We reviewed the recent literature on the molecular basis of hereditary breast cancer, current genetic testing strategies, guideline-based indications, and the psychological, ethical and social challenges of genetic risk disclosure. Next-generation sequencing (NGS)-based multigene panels enable the efficient identification of high- and moderate-penetrance variants, supporting personalized screening, risk-reducing interventions and treatment selection, including eligibility for enzyme poly ADP ribose polymerase (PARP) inhibitors. However, clinical implementation remains limited by persistent barriers, such as variants of uncertain significance and unequal access to genetic counselling and testing services. Genetic testing is reshaping breast cancer care by bridging prevention and precision oncology. Improving access, strengthening counselling pathways and optimizing variant interpretation are essential steps to ensure that genomic advances translate into real-world clinical benefits.

关键词
BRCA1 BRCA2 PARP inhibitors genetic counselling genetic testing hereditary breast cancer multigene panels
文献信息
期刊
Maedica
期刊简称
Maedica (Bucur)
ISSN
1841-9038
发表日期
2026-03-00
语言
英语
国家/地区
Romania
NLM ID
101526930
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