Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas.
作者信息
Kline Cassie N, Joseph Nancy M, Grenert James P, van Ziffle Jessica, Yeh Iwei, Bastian Boris C, Mueller Sabine, Solomon David A
机构信息
Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, California (C.N.K., S.M.); Clinical Cancer Genomics Laboratory, University of California, San Francisco, California (N.M.J., J.P.G., J.v.Z., I.Y., B.C.B.); Departments of Neurology and Neurosurgery, University of California, San Francisco, California (S.M.); Division of Neuropathology, Department of Pathology, University of California, San Francisco, California (D.A.S.).
出版信息
Neuro Oncol. 2016 May;18(5):752-3. doi: 10.1093/neuonc/now013. Epub 2016 Feb 21.
Abstract
摘要
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本文引用的文献
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Germline Mutations in Predisposition Genes in Pediatric Cancer.儿童癌症中易感基因的种系突变
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Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.由于MYH基因的遗传性突变导致的常染色体隐性遗传性结直肠腺瘤性息肉病
Lancet. 2003 Jul 5;362(9377):39-41. doi: 10.1016/S0140-6736(03)13805-6.
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Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.多发性结直肠腺瘤、经典腺瘤性息肉病和MYH基因种系突变
N Engl J Med. 2003 Feb 27;348(9):791-9. doi: 10.1056/NEJMoa025283.
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Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.MYH基因的双等位基因种系突变易导致多发性结肠直肠腺瘤和体细胞G:C→T:A突变。
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Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.与结直肠肿瘤中体细胞G:C→T:A突变相关的MYH基因遗传变异。
Nat Genet. 2002 Feb;30(2):227-32. doi: 10.1038/ng828. Epub 2002 Jan 30.
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Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein.大肠杆菌MutY错配修复蛋白的哺乳动物同源物的特性分析。
Mol Cell Biol. 1995 Feb;15(2):989-96. doi: 10.1128/MCB.15.2.989.
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The molecular basis of Turcot's syndrome.图尔科特综合征的分子基础。
N Engl J Med. 1995 Mar 30;332(13):839-47. doi: 10.1056/NEJM199503303321302.
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