title: p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer.
abstract: OBJECTIVE
  Recently, there has been considerable interest in the association of specific cancers with single nucleotide polymorphisms (SNPs). In this regard, genetic polymorphism at codon 72 (CCC/proline to CGC/arginine [Pro(72)Arg]) of the p53 gene is one of the most frequently studied subjects. An association between endometrial cancer and the polymorphism at codon 31 (AGC/serine to AGA/arginine [Ser(31)Arg]) of the p21 gene, which is known to be a downstream mediator of p53, has also been reported.
  
  
  METHODS
  The authors designed a hospital-based case-control study of 95 endometrial cancer patients and 285 non-cancer controls. For the determination of p53 and p21 polymorphism, allele-specific polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism assay was applied, respectively.
  
  
  RESULTS
  We found statistically significant differences in the frequency of the p53 and p21 genotypes between these two groups (P < 0.001), respectively. The p53 genotypes containing the Pro allele were significantly associated with endometrial cancer with an odds ratio (OR) of 3.56 (95% confidence interval [CI] 2.10-6.04). Also, homozygous carriers of the p21 Ser allele showed a substantially increased risk of developing endometrial cancer (OR 2.68, 95% CI 1.59-4.51) as compared to homozygous and heterozygous carriers of the Arg allele. In addition, the combination of the pro allele containing genotypes of p53 and the Ser homozygous genotype of p21 posed a remarkably increased risk (OR 9.55, 95% CI 4.30-21.24) of endometrial cancer development. These significant differences were maintained throughout the groups after they were stratified by menopausal status.
  
  
  CONCLUSIONS
  These data suggest that there is a significant association between the genetic polymorphisms of p53, p21, and specific combinations of the at-risk genotypes of these genes and the risk of developing endometrial cancer in Korean women.
authors.affiliation: Research Institute and Hospital, National Cancer Center, Goyang, Gyeonggi, South Korea.
authors.forename: Ju Won
authors.initials: JW
authors.lastname: Roh
authors.forename: Jae Weon
authors.initials: JW
authors.lastname: Kim
authors.forename: Noh Hyun
authors.initials: NH
authors.lastname: Park
authors.forename: Yong Sang
authors.initials: YS
authors.lastname: Song
authors.forename: In Ae
authors.initials: IA
authors.lastname: Park
authors.forename: Sang-Yoon
authors.initials: SY
authors.lastname: Park
authors.forename: Soon Beom
authors.initials: SB
authors.lastname: Kang
authors.forename: Hyo Pyo
authors.initials: HP
authors.lastname: Lee
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016213:Cyclins / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C493956:CDKN1A protein, human; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016213:Cyclins