PDF(Pubmed)
Abstract：
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.
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).
The de novo SETBP1 mutation was the genetic cause of SETBP1-HD in the family. BLCA and STAD might be related to SETBP1 overexpression.
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).
The de novo SETBP1 mutation was the genetic cause of SETBP1-HD in the family. BLCA and STAD might be related to SETBP1 overexpression.
摘要：
背景：在过去的十年中，SETBP1引起了很多兴趣，因为具有不同类型或水平（种系或体细胞）变异的相同基因可能引起不同的病理后果，例如Schinzel-Giedon综合征，SETBP1单倍功能不全障碍（SETBP1-HD）和髓系恶性肿瘤。进行全外显子组测序以检测患有智力低下的孕妇的病因。作为一种新的癌基因和髓系恶性肿瘤的潜在标志物，在其他癌症中的体细胞SETBP1变异很少被研究.我们首次对不同癌症中的SETBP1基因进行了全癌分析。
结果：SETBP1基因的新杂合突变（c.1724_1727del，在患者和胎儿中发现了p.D575Vfs*4），并且预测突变会导致截短的蛋白质。SETBP1表达降低与SETBP1-HD相关。SETBP1的全癌分析表明，膀胱尿路上皮癌（BLCA）和胃腺癌（STAD）中应特别注意SETBP1的过表达。
结论：SETBP1突变是该家族中SETBP1-HD的遗传原因。BLCA和STAD可能与SETBP1过表达有关。
结果：SETBP1基因的新杂合突变（c.1724_1727del，在患者和胎儿中发现了p.D575Vfs*4），并且预测突变会导致截短的蛋白质。SETBP1表达降低与SETBP1-HD相关。SETBP1的全癌分析表明，膀胱尿路上皮癌（BLCA）和胃腺癌（STAD）中应特别注意SETBP1的过表达。
结论：SETBP1突变是该家族中SETBP1-HD的遗传原因。BLCA和STAD可能与SETBP1过表达有关。
