title: Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.
abstract: BACKGROUND
  Cases of multiple tumors are rarely reported in China. In our study, a 57-year-old female patient had concurrent squamous cell carcinoma, mucoepidermoid carcinoma, brain cancer, bone cancer, and thyroid cancer, which has rarely been reported to date.
  
  
  METHODS
  To determine the relationship among these multiple cancers, available DNA samples from the thyroid, lung, and skin tumors and from normal thyroid tissue were sequenced using whole exome sequencing.
  
  
  RESULTS
  The notable discrepancies of somatic mutations among the 3 tumor tissues indicated that they arose independently, rather than metastasizing from 1 tumor. A novel deleterious germline mutation (chr22:29091846, G->A, p.H371Y) was identified in CHEK2, a Li-Fraumeni syndrome causal gene. Examining the status of this novel mutation in the patient's healthy siblings revealed its de novo origin.
  
  
  CONCLUSIONS
  Our study reports the first case of Li-Fraumeni syndrome-like in Chinese patients and demonstrates the important contribution of de novo mutations in this type of rare disease.
authors.affiliation: BGI-Shenzhen, Shenzhen Department of Vascular and Endocrine Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China Department of Biology, University of Copenhagen, Copenhagen, Denmark Institute of Clinical Laboratory Medicine Department of Orthopedic Department of Nephrology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.
authors.forename: Xuehan
authors.initials: X
authors.lastname: Zhuang
authors.forename: Yongping
authors.initials: Y
authors.lastname: Li
authors.forename: Hongzhi
authors.initials: H
authors.lastname: Cao
authors.forename: Ting
authors.initials: T
authors.lastname: Wang
authors.forename: Jianghao
authors.initials: J
authors.lastname: Chen
authors.forename: Jiayun
authors.initials: J
authors.lastname: Liu
authors.forename: Liya
authors.initials: L
authors.lastname: Lin
authors.forename: Rui
authors.initials: R
authors.lastname: Ye
authors.forename: Xinyang
authors.initials: X
authors.lastname: Li
authors.forename: Shuang
authors.initials: S
authors.lastname: Liu
authors.forename: Weiyang
authors.initials: W
authors.lastname: Li
authors.forename: Yonggang
authors.initials: Y
authors.lastname: Lv
authors.forename: Juliang
authors.initials: J
authors.lastname: Zhang
authors.forename: Chenyang
authors.initials: C
authors.lastname: He
authors.forename: Xun
authors.initials: X
authors.lastname: Xu
authors.forename: Zhen
authors.initials: Z
authors.lastname: Wang
authors.forename: Chen
authors.initials: C
authors.lastname: Huang
authors.forename: Xiao
authors.initials: X
authors.lastname: Liu
authors.forename: Ling
authors.initials: L
authors.lastname: Wang
mesh_terms: D064447:Checkpoint Kinase 2 / Q000235:genetics*; D002681:China; D003431:Cross-Cultural Comparison; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D035583:Rare Diseases
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human