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PMID: 40604932 已发表 · epublish 英语

Investigating the genetic landscape of cancer in Jordan: a step toward personalized care.

European journal of medical research ·第 30 卷 ·第 1 期 ·2025-07-02

Al-Eitan LN, Tarkhan AH, Ali HO, Alasmar MK, Alghamdi MA

摘要

Cancer is a leading cause of mortality worldwide, with genetic predispositions playing a key role in disease onset. This review assessed over 80 published genetic studies involving more than 3000 Jordanian cancer patients to explore the hereditary landscape of cancer in Jordan. Breast, colorectal, and lung cancers were the most studied, with BRCA1/2 and TP53 among the most frequently mutated genes. While somatic mutations such as KRAS and EGFR were commonly reported in tumor studies, our primary focus is on germline PSVs that may indicate population-specific genetic risks, including BRCA1 exon 11 mutations in breast cancer and p.Gly12Asp in KRAS for colorectal cancer. Unique or novel PSVs, particularly in BRCA2 and AKT1, were also reported, suggesting potential founder effects or region-specific genetic risks. These findings support integrating multigene panel testing and genetic counseling into national cancer prevention strategies to improve early detection and personalized care in Jordan.

关键词
Cancer Early screening Genetic testing Genetics Jordan
文献信息
期刊
European journal of medical research
期刊简称
Eur J Med Res
ISSN
2047-783X
发表日期
2025-07-02
语言
英语
国家/地区
England
NLM ID
9517857
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