Investigating the genetic landscape of cancer in Jordan: a step toward personalized care.
PMID 40604932 | PMCID PMC12220200 | DOI 10.1186/s40001-025-02799-7 · European journal of medical research · 2025 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Breast, colorectal, and lung cancers were the most studied, with BRCA1/2 and TP53 among the most frequently mutated genes.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “Breast, colorectal, and lung cancers were the most studied, with BRCA1/2 and TP53 among the most frequently mutated genes.” | 0.98 | hgnc_dict_v1 |
| gene | KRAS | “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.” | 0.98 | hgnc_dict_v1 |
| gene | EGFR | “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.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “Unique or novel PSVs, particularly in BRCA2 and AKT1, were also reported, suggesting potential founder effects or region-specific genetic risks.” | 0.98 | hgnc_dict_v1 |
| gene | AKT1 | “Unique or novel PSVs, particularly in BRCA2 and AKT1, were also reported, suggesting potential founder effects or region-specific genetic risks.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | colorectal cancer | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Gly12Asp | “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.” | 0.95 | hgvs_regex_v1 |