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4 records shown · first 60Prevalence of JAK 2 v617 Mutations in Malignant and Non-Malignant Tumors in the Eastern Province of the Kingdom of Saudi Arabia.
PMID 39662014 | DOI 10.7754/Clin.Lab.2024.240943 · Clinical laboratory · 2024 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “Laboratory data involved the hematological parameters (hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin concentration, mean corpuscular hemoglobin, hematocrit, white blood cells, red blood cells, and platelets) and real-time PCR JAK2 V617F mutation qualitative assay.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Laboratory data involved the hematological parameters (hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin concentration, mean corpuscular hemoglobin, hematocrit, white blood cells, red blood cells, and platelets) and real-time PCR JAK2 V617F mutation qualitative assay.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Eastern Province | “Prevalence of JAK 2 v617 Mutations in Malignant and Non-Malignant Tumors in the Eastern Province of the Kingdom of Saudi Arabia. This study documents the prevalence of JAK 2 v617 mutations in malignant and non-malignant tumors in the Eastern province of the Kingdom of Saudi Arabia. METHODS: A total of 112 patients were included in the current study between June 2022 and May 2023 at the Molecular Biology Laboratory of the King Fahad Hospital of the University, AlKhobar, Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
The Association Between Janus Kinase 2 and Factor V Leiden Mutations and Thrombotic Complications in Patients With Myeloproliferative Disorders: A Study From Saudi Arabia.
PMID 39723287 | PMCID PMC11669263 | DOI 10.7759/cureus.74401 · Cureus · 2024 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “Background The Janus kinase 2 (JAK2) V617F mutations are related to increased thrombotic risk in patients with myeloproliferative disorders (MPDs).” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Background The Janus kinase 2 (JAK2) V617F mutations are related to increased thrombotic risk in patients with myeloproliferative disorders (MPDs).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “The Association Between Janus Kinase 2 and Factor V Leiden Mutations and Thrombotic Complications in Patients With Myeloproliferative Disorders: A Study From Saudi Arabia. We addressed the association between combined mutations of JAK2 and factor V Leiden (FVL) and thrombotic complications in Saudi Arabian patients with MPDs. Methods We studied 60 patients with MPDs, 32 with polycythemia vera (PV), 24 with essential thrombocythemia (ET), and four with primary myelofibrosis (PMF). Conclusions In the present study of patients with MPDs from Saudi Arabia, JAK2 mutations were found among all the studied patients, and FVL mutations were encountered in 20% of patients.” | 0.95 | saudi_context_rules_v1 |
Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population.
PMID 35189054 | DOI 10.18388/abp.2020_5945 · Acta biochimica Polonica · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population. The aim of this study was to induce V617F mutation in the JAK2 gene in the AML patients diagnosed in the Saudi population. In this case-control study, 100 AML patients and 100 healthy controls were recruited. In conclusion, the V617F mutation showed the positive association in the AML patients diagnosed in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
Essential Thrombocythemia in Children: A Retrospective Study.
PMID 34267847 | PMCID PMC8256913 | DOI 10.14740/jh822 · Journal of hematology · 2021 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “Janus kinase 2 gene (JAK2) V617F mutation was positive in two of 26 patients (7.7%).” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Janus kinase 2 gene (JAK2) V617F mutation was positive in two of 26 patients (7.7%).” | 0.98 | hgnc_dict_v1 |
| gene | MPL | “Myeloproliferative leukemia virus oncogene (MPL) exon 10 and calreticulin (CALR) mutations were tested in eight patients, which were negative for all of them.” | 0.98 | hgnc_dict_v1 |
| gene | CALR | “Myeloproliferative leukemia virus oncogene (MPL) exon 10 and calreticulin (CALR) mutations were tested in eight patients, which were negative for all of them.” | 0.98 | hgnc_dict_v1 |