title: [Germline mutations of TP53 gene among Chinese families with high risk for breast cancer].
abstract: OBJECTIVE
  To evaluate the role of germline mutations of TP53 gene among a Chinese population with high risk for breast cancer.
  
  
  METHODS
  A total of 81 BRCA-negative breast cancer probands from cancer families were analyzed using targeted capture and next-generation sequencing. Candidate mutations were verified with Sanger sequencing. Co-segregation analyses were carried out to explore the likely pathogenicity of the mutation.
  
  
  RESULTS
  Of the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9.1% of all families who fulfilled the diagnostic criteria for LFS. Two of the carriers were diagnosed with breast cancer under the age of 30, and have accounted for 11.8% (2/17) of all very young (≤30 years) breast cancer patients in our study.
  
  
  CONCLUSIONS
  The TP53 germline mutation is more common in Chinese population with a high risk for breast cancer than previously thought. TP53 gene mutation screening should be considered particularly for patients with a family history of LFS and very young age of onset.
authors.affiliation: Breast Cancer Institute, Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, P.R. China. hzhenhu@yahoo.com.
authors.forename: Xiaochen
authors.initials: X
authors.lastname: Yang
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hu
authors.forename: Jiong
authors.initials: J
authors.lastname: Wu
authors.forename: Guangyu
authors.initials: G
authors.lastname: Liu
authors.forename: Genhong
authors.initials: G
authors.lastname: Di
authors.forename: Canming
authors.initials: C
authors.lastname: Chen
authors.forename: Yifeng
authors.initials: Y
authors.lastname: Hou
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Huang
authors.forename: Zhebin
authors.initials: Z
authors.lastname: Liu
authors.forename: Zhenzhou
authors.initials: Z
authors.lastname: Shen
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Shao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000208:ethnology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012307:Risk Factors; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: D016159:Tumor Suppressor Protein p53