title: Genetic and functional analysis of a Li Fraumeni syndrome family in China.
abstract: Li Fraumeni syndrome (LFS) is a rare familial cancer predisposition syndrome with autosomal-dominant inheritance, occurring as frequently as one in 5,000-20,000 individuals. However, no LFS case has been reported from mainland China although it constitutes one quarter of population on earth. In this study, we identified, to our best knowledge, the first Li Fraumeni syndrome family in China. Six family members were affected with various tumors. A TP53 mutation (c.730G > A; p.G244S) co-segregated with the tumor phenotype within this family. Functional analysis indicated that G244S mutation disrupted the transactivity, DNA-binding and cell growth inhibition activity of p53 protein. Two available tumor samples (medulloblastoma and choroid plexus papilloma) underwent large rearrangement in the chromosomes and loss of wild-type TP53. Our data warranted further studies on the prevalence of germline TP53 mutation in various tumor patients in China.
authors.affiliation: The State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.|The Molecular Cytogenetics Laboratories, Beijing Jiaen Hospital, Beijing, 100191, China.
authors.forename: Huaying
authors.initials: H
authors.lastname: Hu
authors.affiliation: Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, Hunan 410080, China.
authors.forename: Jingping
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, Hunan 410080, China.
authors.forename: Xinbin
authors.initials: X
authors.lastname: Liao
authors.affiliation: The State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
authors.forename: Shuju
authors.initials: S
authors.lastname: Zhang
authors.affiliation: The State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
authors.forename: Haibo
authors.initials: H
authors.lastname: Li
authors.affiliation: The State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
authors.forename: Renbin
authors.initials: R
authors.lastname: Lu
authors.affiliation: The State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
authors.forename: Xianfeng
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan 410080, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Lin
authors.affiliation: The State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
authors.forename: Minji
authors.initials: M
authors.lastname: Liu
authors.affiliation: The State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
authors.forename: Zanxian
authors.initials: Z
authors.lastname: Xia
authors.affiliation: Medical Research Institute, Wuhan University, 185 Donghu Rd, Wuhan, Hubei 430071, China.
authors.forename: Guoliang
authors.initials: G
authors.lastname: Qing
authors.affiliation: The State Key Laboratory of Medical Genetics and School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
authors.forename: Jia-Da
authors.initials: JD
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D056915:DNA Copy Number Variations; D005190:Family; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016159:Tumor Suppressor Protein p53 / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D055815:Young Adult
chemical_list: D016159:Tumor Suppressor Protein p53
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