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View article: PD-1 Expression Promotes Immune Evasion in B-ALL
PD-1 Expression Promotes Immune Evasion in B-ALL Open
Background/Objectives: In children developing B-cell acute lymphoblastic leukemia (B-ALL), an immune evasion event takes place where otherwise “silent” preleukemic cells undergo a malignant transformation while escaping immune control, oft…
View article: Supplemental Table 2 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 2 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 2. Genes included on multigene panel tests.
View article: Supplemental Table 3 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 3 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 3. Total cohort of 78 Patients with thyroid carcinoma, including those who did and did not undergo genetic testing.
View article: Supplemental Table 4 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 4 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 4. Patient Cancer and Treatment History.
View article: Supplemental Table 5 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 5 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 5. Thyroid carcinoma treatment and outcomes for patients with germline CPG PV.
View article: Supplemental Table 1 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 1 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 1. Germline genetic testing completed.
View article: Supplemental Table 3 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 3 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 3. Total cohort of 78 Patients with thyroid carcinoma, including those who did and did not undergo genetic testing.
View article: Supplemental Table 2 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 2 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 2. Genes included on multigene panel tests.
View article: Supplemental Table 1 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 1 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 1. Germline genetic testing completed.
View article: Supplemental Table 5 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 5 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 5. Thyroid carcinoma treatment and outcomes for patients with germline CPG PV.
View article: Supplemental Table 4 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Supplemental Table 4 from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Supplemental Table 4. Patient Cancer and Treatment History.
View article: Data from Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Data from Contribution of Germline Predisposition to Pediatric Thyroid Cancer Open
Purpose:Pediatric thyroid carcinoma is a rare cancer for which germline genetic factors remain incompletely understood. To gain further insight, we examined the prevalence and spectrum of pathogenic variants (PV) in cancer-predisposing gen…
View article: Comprehensive investigation of DNA damage repair genes in children with cancer identifies<i>SMARCAL1</i>as novel osteosarcoma predisposition gene
Comprehensive investigation of DNA damage repair genes in children with cancer identifies<i>SMARCAL1</i>as novel osteosarcoma predisposition gene Open
Background Recent large-scale genomic sequencing studies reveal that 5-18% of children with cancer harbor pathogenic variants (PV) in known cancer predisposing genes (CPG). However, DNA damage repair (DDR) genes, which are frequently somat…
View article: PD-1 Expression Promotes Immune Evasion in B-ALL
PD-1 Expression Promotes Immune Evasion in B-ALL Open
In children developing B-cell acute lymphoblastic leukemia (B-ALL), an immune evasion event takes place where otherwise “silent” preleukemic cells undergo a malignant transformation while escaping immune control, often by unkno…
View article: Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia Open
B-cell deficiency resulting from IGLL1 variants appears to be more prevalent than initially believed. Despite markedly low B-cell counts, the clinical course in some patients may be milder than reported in the literature so far.
View article: Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition Open
The genomics era has facilitated the discovery of new genes that predispose individuals to bone marrow failure (BMF) and hematological malignancy (HM). We report the discovery of ETS-related gene (ERG), a novel, autosomal dominant BMF/HM p…
View article: Differential effects of itacitinib, fedratinib, and ruxolitinib in mouse models of hemophagocytic lymphohistiocytosis
Differential effects of itacitinib, fedratinib, and ruxolitinib in mouse models of hemophagocytic lymphohistiocytosis Open
Hemophagocytic lymphohistiocytosis (HLH) comprises a severe hyperinflammatory phenotype driven by the overproduction of cytokines, many of which signal via the JAK/STAT pathway. Indeed, the JAK1/2 inhibitor ruxolitinib has demonstrated eff…
View article: Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children’s Oncology Group AREN18B5-Q
Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children’s Oncology Group AREN18B5-Q Open
Developing synchronous bilateral Wilms tumor suggests an underlying (epi)genetic predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or genome sequencing ( n = 85 tumors from 61 patients with matched germ…
View article: Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene Open
Replication Protein A (RPA) is single-strand DNA binding protein that plays a key role in the replication and repair of DNA. RPA is a heterotrimer made of 3 subunits – RPA1, RPA2, and RPA3. Germline pathogenic variants affecting RPA1 were …
View article: Immune stress suppresses innate immune signaling in preleukemic precursor B-cells to provoke leukemia in predisposed mice
Immune stress suppresses innate immune signaling in preleukemic precursor B-cells to provoke leukemia in predisposed mice Open
The initial steps of B-cell acute lymphoblastic leukemia (B-ALL) development usually pass unnoticed in children. Several preclinical studies have shown that exposure to immune stressors triggers the transformation of preleukemic B cells to…
View article: ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice
ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice Open
ETS variant 6 (ETV6) encodes a transcriptional repressor expressed in hematopoietic stem and progenitor cells (HSPCs), where it is required for adult hematopoiesis. Heterozygous pathogenic germline ETV6 variants are associated with thrombo…
View article: Cellular and transcriptional impacts of Janus kinase and/or IFN-gamma inhibition in a mouse model of primary hemophagocytic lymphohistiocytosis
Cellular and transcriptional impacts of Janus kinase and/or IFN-gamma inhibition in a mouse model of primary hemophagocytic lymphohistiocytosis Open
Background Primary hemophagocytic lymphohistiocytosis (pHLH) is an inherited inflammatory syndrome driven by the exuberant activation of interferon-gamma (IFNg)-producing CD8 T cells. Towards this end, ruxolitinib treatment or IFNg neutral…
View article: Supplementary fig 1 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management
Supplementary fig 1 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management Open
Supplementary Figure 1. Signature exposures in 21 samples with aoCPG variants
View article: Supplementary Data- Tables TS1-6 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management
Supplementary Data- Tables TS1-6 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management Open
Supplementary Tables 1-6
View article: Supplementary fig 3 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management
Supplementary fig 3 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management Open
Supplementary Figure 3. HRD Sum scores from ScarHRD analysis for biallelic, monoallelic, or no loss of HR genes in aoCPG and control samples.
View article: Supplementary Data- Tables TS1-6 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management
Supplementary Data- Tables TS1-6 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management Open
Supplementary Tables 1-6
View article: Supplementary Methods MS1 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management
Supplementary Methods MS1 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management Open
Supplementary Methods
View article: Supplementary fig 1 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management
Supplementary fig 1 from Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management Open
Supplementary Figure 1. Signature exposures in 21 samples with aoCPG variants