ObjectiveTo investigate the clinical characteristics of children with brain tumors complicated with Li-Fraumeni syndrome (LFS) and analyze its association with TP53 gene mutation. MethodsRetrospective analysis was conducted on clinical data of pediatric patients diagnosed with LFS at the outpatient clinic o...
ObjectiveTo investigate the clinical characteristics of children with brain tumors complicated with Li-Fraumeni syndrome (LFS) and analyze its association with TP53 gene mutation. MethodsRetrospective analysis was conducted on clinical...
Sign up with one click: Facebook Twitter Google Share on Facebook TP53 Also found in:Medical,Acronyms,Wikipedia. (tē′pē′fĭf′tē-thrē′) n. Seep53. [t(umor) p(rotein) 53; seep53.] American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Ho...
Germline genetic variants in TP53 are the primary cause of Li-Fraumeni syndrome (LFS, OMIM 151623), a hereditary cancer predisposition disorder [2] associated with an approximately 24 times higher lifetime incidence of any cancer compared with the general population [3]. The database was ...
Molecular insights into TP53 mutation (p. Arg267Trp) and its connection to Choroid Plexus Carcinomas and Li-Fraumeni Syndromedoi:10.1007/s13258-024-01531-9Rare Genetic DisorderHereditary Cancer SyndromeTumor Suppressor GeneGenetic VariantsComputational Structural Analysis...
Due to the very low probability of finding a (likely) pathogenicTP53variant of germline origin, it is discouraged to suggest in the report the possibility of Li-Fraumeni or other cancer hereditary syndrome (see section “Interpretation, Non-tumor DNA testing”). We recommend mentioning the fact ...
Gene expression profiles in breast tumours show that elevated EXO1 expression is related to unfavourable prognosis, and single-nucleotide polymorphisms (SNPs) of EXO1 are related to hereditary susceptibility to HCC [49,50]. Furthermore, Tanaka et al. performed differential expression analysis between ...
Germline mutations associated withTP53-mutated HGSC include genes implicated in hereditary breast and ovarian cancer syndrome, namely,BRCA1/2andPALB2, which supported the HGSC diagnosis. The biologic significance of germline colorectal polyposis-associatedMUTYHandAPCvariants identified in three cases is unc...
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All family members who provided a saliva sample received a 30-gene next generation sequencing (NGS) panel for detection of pathogenic variants associated with elevated risk of hereditary cancer. NGS panel testing was performed at the Color laboratory (Burlingame, CA) under CLIA (Clinical Laboratory ...