ABSTRACT: Detection of SNV/indels in the germline of pediatric cancer patients with a focus on CHEK2 germline variants. Included in this EGA upload are the parents of the children in EGA uplodad EGAD00001008763.
Project description:The role of germline CHEK2 variants in hematopoietic malignancies (HMs) is poorly understood. We examined pathogenic/likely pathogenic (P/LP) CHEK2 variants in a hereditary hematopoietic malignancy (HHM) and solid tumor risk cohorts, the UK Biobank, public acute myeloid leukemia (AML) datasets, and a knock-in mouse model. This submission is for the data from Chek2 p.161T mice,sorted CD34+ Bone Marrow cells,Bulk RNA Sequencing.
Project description:Differentially expressed genes between BRCA1/BRCA2 negative and positive mutation driven-tumors. Screening for germline mutations was performed in a cohort of 55 patients under the age of 35 years in the BRCA1, BRCA2, CHEK2 (c.del1,100C) and TP53 genes, and the respective tumors were investigated regarding hormonal receptors status, HER2 expression. Transcriptional profiles were performed using Agilent one color hybridizations in a G4112F platform.
Project description:A comparative panoramic mass spectrometric analysis of serum samples from three families with children with autistic disorders was carried out. The total number of examined samples was nine, including four control samples from healthy parents, and five samples from autistic children.
