NDLI: Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis

Content Provider	Springer Nature : BioMed Central
Author	Wang, Hongdan Gao, Yue Qin, Litao Zhang, Mengting Shi, Weili Feng, Zhanqi Guo, Liangjie Zhu, Bofeng Liao, Shixiu
Abstract	Background 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. Results 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). Conclusions The de novo SETBP1 mutation was the genetic cause of SETBP1-HD in the family. BLCA and STAD might be related to SETBP1 overexpression.
Related Links	https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-023-02705-6.pdf
Ending Page	16
Page Count	16
Starting Page	1
File Format	HTM / HTML
ISSN	17501172
DOI	10.1186/s13023-023-02705-6
Journal	Orphanet Journal of Rare Diseases
Issue Number	1
Volume Number	18
Language	English
Publisher	BioMed Central
Publisher Date	2023-05-07
Access Restriction	Open
Subject Keyword	Medicine Public Health Pharmacology Toxicology Human Genetics SETBP1 SETBP1 haploinsufficiency disorder Schinzel-Giedon syndrome Tumorgenesis Medicine/Public Health Pharmacology/Toxicology
Content Type	Text
Resource Type	Article
Subject	Pharmacology (medical) Genetics (clinical)
Journal Impact Factor	3.4/2023
5-Year Journal Impact Factor	3.9/2023

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