Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome

	Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome
	Wang, ZY; Sun, YH; Gao, B; Lu, Y; Fang, R; Gao, YJ; Xiao, T; Liu, XY; Pao, W; Zhao, Y
刊名	CANCER LETTERS
	2014
卷号	342 期号:1 页码:36-42
关键词	P53 V157D PMS2 R20Q Germ line mutation Familial cancer syndrome Co-existing
通讯作者	Zhao, Y (reprint author), Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Biochem & Cell Biol, State Key Lab Cell Biol, Shanghai 200031, Peoples R China.,hbji@sibcb.ac.cn
英文摘要	Germline mutations are responsible for familial cancer syndromes which account for approximately 5-10% of all types of cancers. These mutations mainly occur at tumor suppressor genes or genome stability genes, such as DNA repair genes. Here we have identified a cancer predisposition family, in which eight members were inflicted with a wide spectrum of cancer including one diagnosed with lung cancer at 22 years old. Sequencing analysis of tumor samples as well as histologically normal specimens identified two germline mutations co-existing in the familial cancer syndrome, the mutation of tumor suppressor gene P53 V157D and mismatch repair gene PM52 R20Q. We further demonstrate that P53 V157D and/or PMS2 R20Q mutant promotes lung cancer cell proliferation. These two mutants are capable of promoting colony formation in soft agar as well as tumor formation in transgenic drosophila system. Collectively, these data have uncovered the important role of co-existing germline P53 and PMS2 mutations in the familial cancer syndrome development. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
学科主题	Oncology
类目[WOS]	Oncology
关键词[WOS]	CEREVISIAE MSH2-MSH6 COMPLEX ; MISMATCH REPAIR GENE ; LI-FRAUMENI SYNDROME ; CELL LUNG-CANCER ; BINDING-SITES ; P53 ; DNA ; PMS2 ; EXPRESSION ; DEFECTS
收录类别	SCI
语种	英语
WOS记录号	WOS:000328591100005
内容类型	期刊论文
版本	出版稿
源URL	[http://202.127.25.143/handle/331003/134]
专题	上海生化细胞研究所_上海生科院生化细胞研究所
推荐引用方式 GB/T 7714	Wang, ZY,Sun, YH,Gao, B,et al. Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome[J]. CANCER LETTERS,2014,342(1):36-42.
APA	Wang, ZY.,Sun, YH.,Gao, B.,Lu, Y.,Fang, R.,...&Ji, HB.(2014).Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.CANCER LETTERS,342(1),36-42.
MLA	Wang, ZY,et al."Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome".CANCER LETTERS 342.1(2014):36-42.