title: A missense mutation (S3660L) in MLL3 gene influences risk of gastric cancer.
abstract: OBJECTIVE
  Several studies indicated that the expression level of MLL3 gene in gastric cancer tissue was associated with prognosis, and previous studies also suggested that genetic polymorphisms of MLL3 were related to the risk for gastric cancer. The present study aimed to investigate the association of a missense mutation (S3660L) in the MLL3 gene with gastric cancer risk in a Chinese population.
  
  
  METHODS
  In the present study, we identified a novel missense mutation in MLL3 gene (S3660L) by directly sequencing method in 48 gastric cancer patients. To further explore the relation between gastric cancer and this mutation, we selected 354 gastric cancer patients and 377 healthy control subjects and designed a case-control study.
  
  
  RESULTS
  We found that the AG genotype (14.9 vs 6.40%, odds ratio/OR=2.58, 95% CI: 1.33-4.54, p<0.001) and A allele (7.5 vs 3.2%, OR=2.46, 95% CI: 1.55~5.34, p<0.001) were common in the gastric cancer patients than in the control subjects.
  
  
  CONCLUSIONS
  We concluded that this novel missense (S3660L) mutation in MLL3 gene is likely to increase the gastric cancer risk.
authors: Department of Surgical Oncology, General Hospital of the People's Liberation Army, Beijing, P.R.China.
authors: Bing
authors: B
authors: Li
authors: Hong-Yi
authors: HY
authors: Liu
authors: Shao-Hua
authors: SH
authors: Guo
authors: Peng
authors: P
authors: Sun
authors: Fang-Ming
authors: FM
authors: Gong
authors: Bao-Qing
authors: BQ
authors: Jia
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D012306:Risk; D013274:Stomach Neoplasms / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C452979:KMT2C protein, human