%0 Journal Article
%T Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.
%A Wang H
%A Gao Y
%A Qin L
%A Zhang M
%A Shi W
%A Feng Z
%A Guo L
%A Zhu B
%A Liao S
%J Orphanet J Rare Dis
%V 18
%N 1
%D 2023 05 7
%M 37150818
%F 4.303
%R 10.1186/s13023-023-02705-6
%X In the past decade, SETBP1 has attracted a lot of interest on that the same gene with different type or level (germline or somatic) of variants could provoke different pathologic consequences such as Schinzel-Giedon syndrome, SETBP1 Haploinsufficiency Disorder (SETBP1-HD) and myeloid malignancies. Whole exome sequencing was conducted to detect the etiology of a pregnant woman with mental retardation. As a new oncogene and potential marker of myeloid malignancies, somatic SETBP1 variants in other cancers were rarely studied. We performed a pan-cancer analysis of SETBP1 gene in different cancers for the first time.<BR>A novel heterozygous mutation of the SETBP1 gene (c.1724_1727del, p.D575Vfs*4) was found in the patient and the fetus and the mutation was predicted to result in a truncated protein. Reduced SETBP1 expression was associated with SETBP1-HD. The pan-cancer analysis of SETBP1 showed that SETBP1 overexpression should be given special attention in Bladder Urothelial Carcinoma (BLCA) and Stomach adenocarcinoma (STAD).<BR>The de novo SETBP1 mutation was the genetic cause of SETBP1-HD in the family. BLCA and STAD might be related to SETBP1 overexpression.