Muir-Torre Syndrome: expanding the genotype and phenotype - a further family with a MSH6 mutation
Muir-Torre Syndrome: expanding the genotype and phenotype - a further family with a MSH6 mutation
复制标题
DOI：
10.1007/s10689-008-9183-y
复制
发表时间：
2008-09-01
期刊：
影响因子：
2.2
通讯作者：
Greenhalgh, K. L.
中科院分区：
文献类型：
--
作者：
Murphy, H. R.;Armstrong, R.;Greenhalgh, K. L.
Muir-Torre综合征（MTS）是HNPCC的一种表型变异，传统上与错配修复基因MLH1和MSH2的突变有关。我们提请注意最近的报道，发现MTS与一个体质性MSH6突变相关，并描述了另一个MTS家族与MSH6突变，其中发现结肠外肿瘤的优势。
Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. We draw attention to recent reports of MTS found in association with a constitutional MSH6 mutation and describe a further MTS family with a MSH6 mutation, in whom a preponderance of extra-colonic tumours was found.