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14 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 |
JAK2-V617F mutation among blood donors: A meta-analysis.
PMID 39658117 | PMCID PMC11629640 | DOI 10.15537/smj.2024.45.12.20240594 · Saudi medical journal · 2024 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “JAK2-V617F mutation among blood donors: A meta-analysis.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “OBJECTIVES: To systematically review evidence on the prevalence of the JAK2V617F (JAK2) mutation and polycythemia vera (PV) among all blood donors, focusing on those with elevated hematocrit.” | 0.98 | hgnc_dict_v1 |
A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F Mutation in the JAK2 Gene.
PMID 36864712 | PMCID PMC9989977 | DOI 10.12659/AJCR.938488 · The American journal of case reports · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F Mutation in the JAK2 Gene.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F Mutation in the JAK2 Gene.” | 0.98 | hgnc_dict_v1 |
| gene | BCR | “BACKGROUND Breakpoint cluster region (BCR)-Abelson murine leukemia (ABL1) and Janus Kinase-2 (JAK2) mutations have been thought to be mutually exclusive in myeloproliferative neoplasms (MNPs), but recent data suggest that they can occur together.” | 0.98 | hgnc_dict_v1 |
| gene | ABL1 | “BACKGROUND Breakpoint cluster region (BCR)-Abelson murine leukemia (ABL1) and Janus Kinase-2 (JAK2) mutations have been thought to be mutually exclusive in myeloproliferative neoplasms (MNPs), but recent data suggest that they can occur together.” | 0.98 | hgnc_dict_v1 |
Janus Kinase-Signal Transducer and Activator of Transcription Inhibitors for the Treatment and Management of Cancer.
PMID 37522565 | DOI 10.1615/JEnvironPatholToxicolOncol.2023045403 · Journal of environmental pathology, toxicology and oncology : official organ of the International Society for Environmental Toxicology and Cancer · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “For instance, many patients with myeloproliferative neoplasms carry the acquired gain-of-function JAK2 V617F somatic mutation.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “For instance, many patients with myeloproliferative neoplasms carry the acquired gain-of-function JAK2 V617F somatic mutation.” | 0.98 | hgnc_dict_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 |
Oral squamous cell carcinoma with essential thrombocythemia and positive JAK2 (V617F) mutation.
PMID 35592809 | PMCID PMC9073874 | DOI 10.1016/j.jtumed.2021.09.011 · Journal of Taibah University Medical Sciences · 2022 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “Oral squamous cell carcinoma with essential thrombocythemia and positive JAK2 (V617F) mutation.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Oral squamous cell carcinoma with essential thrombocythemia and positive JAK2 (V617F) mutation.” | 0.98 | hgnc_dict_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 |
Ectopic PD-L1 expression in JAK2 (V617F) myeloproliferative neoplasm patients is mediated via increased activation of STAT3 and STAT5.
PMID 32430672 | DOI 10.1007/s13577-020-00370-6 · Human cell · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “All MPN patients were first screened for JAK2 (V617F) mutation by tetra-primer ARMS-PCR, followed by quantification of JAK2 (V617F) mutation burden in all V617F positive MPN patients by ASO-PCR.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Ectopic PD-L1 expression in JAK2 (V617F) myeloproliferative neoplasm patients is mediated via increased activation of STAT3 and STAT5.” | 0.98 | hgnc_dict_v1 |
| gene | STAT3 | “Ectopic PD-L1 expression in JAK2 (V617F) myeloproliferative neoplasm patients is mediated via increased activation of STAT3 and STAT5.” | 0.98 | hgnc_dict_v1 |
| gene | BCR | “We studied PD-L1, STAT3 and STAT5 mRNA expression using qRT-PCR in 72 BCR/ABL1 negative myeloproliferative neoplasm (MPN) patients (39 polycythemia vera and 33 essential thrombocythemia).” | 0.98 | hgnc_dict_v1 |
An Update on JAK Inhibitors.
PMID 29589523 | DOI 10.2174/0929867325666180327093502 · Current medicinal chemistry · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “Furthermore, the V617F mutation in JAK2 was identified in patients affected by myeloproliferative neoplasms.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK1 | “Janus kinases (JAKs) are a family of non-receptor tyrosine kinases, composed by four members, JAK1, JAK2, JAK3 and TYK2.” | 0.98 | hgnc_dict_v1 |
| gene | JAK2 | “Janus kinases (JAKs) are a family of non-receptor tyrosine kinases, composed by four members, JAK1, JAK2, JAK3 and TYK2.” | 0.98 | hgnc_dict_v1 |
| gene | JAK3 | “Janus kinases (JAKs) are a family of non-receptor tyrosine kinases, composed by four members, JAK1, JAK2, JAK3 and TYK2.” | 0.98 | hgnc_dict_v1 |
Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients.
PMID 31516339 | PMCID PMC6733781 | DOI 10.1016/j.sjbs.2019.08.002 · Saudi journal of biological sciences · 2019 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Genetic and environmental factors can cause mutation in several genes like tyrosine kinase, JAK2 gene which may initiate cancer.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients. RESULTS: The breast cancer risk factors includes unfiltered water (68.57%), urban (58.57%), menopause (55.71%), family history of cancer (18.57%), tumor grades (II, 37.14% and III, 35.71%), consanguineous marriages (44.28%) and having more than 3-4 children (45.71%).” | 0.80 | saudi_context_rules_v1 |
JAK2 and Beyond: Mutational Study of JAK2V617 in Myeloproliferative Disorders and Haematological Malignancies in Kashmiri population.
PMID 31870101 | PMCID PMC7173381 | DOI 10.31557/APJCP.2019.20.12.3611 · Asian Pacific journal of cancer prevention : APJCP · 2019 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “BACKGROUND: Janus Tyrosine Kinase-2 (JAK2 V617F), a novel point mutation affecting the MPD'S is a somatic gain-of-function mutation.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “JAK2 and Beyond: Mutational Study of JAK2V617 in Myeloproliferative Disorders and Haematological Malignancies in Kashmiri population.” | 0.98 | hgnc_dict_v1 |
Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.
PMID 30519338 | PMCID PMC6277640 | DOI 10.7150/jca.27414 · Journal of Cancer · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | V617F | “Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “The most frequently reported genetic aberration among polycythemia vera (PV) patients is a gain of function mutation V617F in exon 14 of Janus kinase 2 (JAK2) gene.” | 0.98 | hgnc_dict_v1 |
| variant | F537F | “F537F/I found in both patients and R528R/T, which is a novel mutation.” | 0.82 | literature_variant_regex_v2 |
| variant | R528R | “F537F/I found in both patients and R528R/T, which is a novel mutation.” | 0.82 | literature_variant_regex_v2 |
Detection of mutations in JAK2 exons 12-15 by Sanger sequencing.
PMID 26361084 | DOI 10.1111/ijlh.12425 · International journal of laboratory hematology · 2016 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.V617F | “INTRODUCTION: The Janus kinase (JAK)2 p.V617F gain-of-function mutation is a hallmark of BCR-ABL1-negative myeloproliferative neoplasms (MPNs).” | 0.95 | hgvs_regex_v1 |
| gene | JAK2 | “Detection of mutations in JAK2 exons 12-15 by Sanger sequencing.” | 0.98 | hgnc_dict_v1 |
| variant | p.G571S | “Non-p.V617F JAK2 mutations were detected in the remaining nine (3.3%) patients: five (1.8%) had a p.G571S mutation, and one (0.3%) each had p.E543_D544del, p.Y570Y silent, p.R541_E543delinsK, and p.I540_N542delinsM mutations.” | 0.95 | hgvs_regex_v1 |
| variant | p.Y570Y | “Non-p.V617F JAK2 mutations were detected in the remaining nine (3.3%) patients: five (1.8%) had a p.G571S mutation, and one (0.3%) each had p.E543_D544del, p.Y570Y silent, p.R541_E543delinsK, and p.I540_N542delinsM mutations.” | 0.95 | hgvs_regex_v1 |