Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.
作者信息
Clendenning M, Macrae F A, Walsh M D, Walters R J, Thibodeau S N, Gunawardena S R, Potter J D, Haile R W, Gallinger S, Hopper J L, Jenkins M A, Rosty C, Young J P, Buchanan D D
出版信息
Clin Genet. 2013 Jun;83(6):591-3. doi: 10.1111/cge.12011. Epub 2012 Sep 27.
Abstract
摘要
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本文引用的文献
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Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.插入一个 SVA 元件，一种非自主逆转录转座子，在 PMS2 内含子 7 中作为林奇综合征的一个新的原因。
Hum Mutat. 2012 Jul;33(7):1051-5. doi: 10.1002/humu.22092. Epub 2012 Apr 30.
2
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.双等位基因 MLH1 SNP cDNA 表达或组成型启动子甲基化可能会掩盖导致林奇综合征的基因组重排。
J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28.
3
Mutation deep within an intron of MSH2 causes Lynch syndrome.MSH2 内含子深处的突变导致林奇综合征。
Fam Cancer. 2011 Jun;10(2):297-301. doi: 10.1007/s10689-011-9427-0.
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Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.临床分析 PMS2：突变检测和假基因的避免。
Hum Mutat. 2010 May;31(5):588-93. doi: 10.1002/humu.21230.
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PMS2 involvement in patients suspected of Lynch syndrome.PMS2在疑似林奇综合征患者中的作用。
Genes Chromosomes Cancer. 2009 Apr;48(4):322-9. doi: 10.1002/gcc.20642.
6
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.因种系PMS2突变导致的林奇综合征的临床表型。
Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2.
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