title: Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population.
abstract: BACKGROUND
  The 1100delC CHEK2 allele has been associated with a 1.4-to 4.7-fold increased risk of breast cancer in women carrying this mutation. Our study investigated the frequency of this allele in a Chinese population.
  
  
  METHODS
  Using touchdown polymerase chain reaction, we sequenced the CHEK2.1100delC mutation in 74 breast cancer patients with a family history of breast cancer and 50 control subjects.
  
  
  RESULTS
  We did not find the CHEK2.1100delC mutation in any of the Chinese subjects. However, another missense mutation, 1111C>T (His371Tyr), was found in a familial breast cancer patient, but not in any other subjects.
  
  
  CONCLUSIONS
  The CHEK2.1100delC mutation may be a rare variant in Chinese populations and may not contribute to predisposition for familial breast cancer in China. However, there may be an association between genetic susceptibility to breast cancer in China and the variant 1111C>T.
authors.affiliation: Centre Laboratory of Oncology, Tianjin Medical University Cancer Hospital, Tianjin, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Chen
authors.forename: Shi
authors.initials: S
authors.lastname: Yurong
authors.forename: Ning
authors.initials: N
authors.lastname: Liansheng
mesh_terms: D044466:Asian People / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D064447:Checkpoint Kinase 2; D005260:Female; D005787:Gene Frequency; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases