Al-Eitan Laith N, Tarkhan Amneh H, Ali Haneen O, Alasmar Maryam K, Alghamdi Mansour A
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, P.O. Box 3030, Irbid, 22110, Jordan.
Department of Anatomy, College of Medicine, King Khalid University, 61421, Abha, Saudi Arabia.
Eur J Med Res. 2025 Jul 2;30(1):544. doi: 10.1186/s40001-025-02799-7.
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.
癌症是全球主要的死亡原因之一，遗传易感性在疾病发病中起关键作用。本综述评估了80多项已发表的涉及3000多名约旦癌症患者的基因研究，以探索约旦癌症的遗传情况。乳腺癌、结直肠癌和肺癌是研究最多的癌症，BRCA1/2和TP53是最常发生突变的基因。虽然肿瘤研究中普遍报道了KRAS和EGFR等体细胞突变，但我们主要关注的是可能表明特定人群遗传风险的种系PSV，包括乳腺癌中的BRCA1外显子11突变和结直肠癌中的KRAS p.Gly12Asp突变。还报道了独特或新的PSV，特别是在BRCA2和AKT1中，这表明可能存在奠基者效应或区域特异性遗传风险。这些发现支持将多基因检测和遗传咨询纳入国家癌症预防策略，以改善约旦的早期检测和个性化医疗。
