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http://purl.uniprot.org/citations/37129918http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/37129918http://www.w3.org/2000/01/rdf-schema#comment"Germline genetic variants influence development of pediatric B cell acute lymphoblastic leukemia (B-ALL). Genome-wide association studies (GWAS) have identified several pediatric B-ALL susceptibility loci. IKZF1 and PAX5, transcription factors involved in B cell development, have been reported as susceptibility genes for B-ALL development. Therefore, we hypothesized that rare variants of genes involved in B cell development would be candidate susceptibility loci for pediatric B-ALL. Thus, we sequenced TCF3, a key transcription factor gene involving in B cell development. Saliva DNA from 527 pediatric patients with pediatric B-ALL in remission who were registered with the Tokyo Children's Cancer Study Group (TCCSG) were examined. As a TCF3 gene-based evaluation, the numbers of rare deleterious germline TCF3 sequence variants in patients with pediatric B-ALL were compared with those in cancer-free individuals using data in public databases. As a TCF3 single-variant evaluation, the frequencies of rare deleterious germline TCF3 sequence variants in patients with pediatric B-ALL were also compared with those in control data. TCF3 gene-based analysis revealed significant associations between rare deleterious variants and pediatric B-ALL development. In addition, TCF3 variant-based analysis showed particularly strong association between variant rs372168347 (three in 521 TCCSG and three in the 15780 gnomAD whole genome analysis cohort, p = 0.0006) and pediatric B-ALL development. TCF3 variants are known to influence B cell maturation and may increase the risk of preleukemic clone emergence."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.org/dc/terms/identifier"doi:10.1080/08880018.2023.2201302"xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Arakawa Y."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Goto H."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Nakamura K."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Takagi M."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Sato Y."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Takahashi H."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Morio T."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Miyamoto S."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Moriwaki K."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Noguchi Y."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Inukai T."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Sakashita K."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Ota S."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Koike K."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Morita D."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Koh K."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Yuza Y."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Hasegawa D."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Takita J."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Manabe A."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Yanagimachi M."xsd:string
http://purl.uniprot.org/citations/37129918http://purl.uniprot.org/core/author"Toyama D."xsd:string