主页 文献库文献详情
PMID: 42521810 已发表 · aheadofprint 英语

Bridging the gap: integrating hereditary cancer into precision oncology.

Rezqallah A, Cruellas M, Balmaña J

摘要

Advances in next-generation sequencing have expanded the identification of hereditary cancer patients, which account for approximately 10% of all cancer diagnoses. Precision medicine has profoundly reshaped the landscape of oncology, particularly in the management of hereditary cancer syndromes, through the convergence of germline genetics and targeted therapeutics. Disruption of homologous recombination repair genes such as BRCA1/2 and PALB2 confers synthetic lethal sensitivity to Poly ADP-ribose polymerase inhibitors and combination strategies targeting replication stress or cell-cycle checkpoints. Mismatch repair deficiency results in microsatellite instability and an increased neoantigen load, enabling durable responses to immune checkpoint blockade and supporting organ-preserving approaches in selected localized settings. Germline VHL inactivation induces a constitutive pseudohypoxic state that can be therapeutically exploited with HIF2α inhibitors in von Hippel-Lindau-associated neoplasms, illustrating interception of a lineage-agnostic metabolic axis. Activating germline RET pathogenic variants in hereditary medullary thyroid carcinoma demonstrate how highly selective kinase inhibitors can achieve superior efficacy-toxicity profiles compared with earlier multikinase agents. In patients with neurofibromatosis type 1, dysfunction of the neurofibromin GTPase-activating protein leads to RAS pathway hyperactivation, defining a rational therapeutic target. This evolving paradigm underscores the expanding role of germline testing beyond individuals with strong personal or family histories of cancer. Timely and equitable access to genetic results is essential to ensure that patients benefit from precision therapies without unnecessary delays. This review provides an integrative framework for bridging hereditary cancer and precision oncology.

文献信息
期刊
European journal of human genetics : EJHG
期刊简称
Eur J Hum Genet
ISSN
1476-5438
发表日期
2026-07-28
语言
英语
国家/地区
England
NLM ID
9302235
分析服务
分析服务

联系地址

山东省济南市章丘区文博路2号

齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号

大学科技园北区F座4单元2楼

电话: 0531-88819269

微信公众号

关注微信订阅号,实时查看信息,关注医学生物学动态。


商务邮箱

E-mail: product@genelibs.com