title: Murine double-minute 2 homolog single nucleotide polymorphism 309 and the risk of gynecologic cancer.
abstract: A functional T to G germline polymorphism in the promoter region of murine double-minute 2 homolog single nucleotide polymorphism 309 (MDM2-SNP309) has been reported to profoundly accelerate tumor formation, suggesting that it may also represent a powerful cancer predisposing allele. In this study, MDM2-SNP309 was examined in a total of 400 blood samples from 108 normal, 88 cervical, 119 endometrial and 85 ovarian cancer cases using two independent polymerase chain reaction assays for each allele. When the MDM2-SNP309 genotype was classified into two subgroups of TT+TG and GG, the GG genotype was associated with an increased risk for the development of endometrial cancer (odds ratio [OR]= 1.91, 95% confidence interval [CI] = 1.05 to 3.47) compared with the TT+TG genotype (P = 0.0353). The G allele also increased the risk of endometrial cancer (OR = 1.20, 95% CI = 0.83 to 1.74) compared with the T allele, but no statistical difference was found (P = 0.3333). The homozygous GG genotype was also associated with postmenopausal status and type I endometrial cancer (P = 0.0306 and 0.0326, respectively). There was no significant difference in the genotype or allele prevalence between control subjects and cervical or ovarian cancer patients. These results suggest that homozygous GG genotype of MDM2-SNP309 may be a risk factor for postmenopausal and type I endometrial cancer in a Japanese population.
authors.affiliation: Cytopathology and Gynecology, Osaka Cancer Prevention and Detection Center, 1-6-107 Morinomiya, Joto-ku, Osaka, Japan. mueda@gan-osaka.or.jp
authors.forename: Masatsugu
authors.initials: M
authors.lastname: Ueda
authors.forename: Michiko
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Osamu
authors.initials: O
authors.lastname: Nunobiki
authors.forename: Eisaku
authors.initials: E
authors.lastname: Toji
authors.forename: Naomi
authors.initials: N
authors.lastname: Sato
authors.forename: Shinji
authors.initials: S
authors.lastname: Izuma
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Okamoto
authors.forename: Kiyo
authors.initials: K
authors.lastname: Torii
authors.forename: Sadamu
authors.initials: S
authors.lastname: Noda
mesh_terms: D044466:Asian People; D005260:Female; D005787:Gene Frequency; D005833:Genital Neoplasms, Female / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D051736:Proto-Oncogene Proteins c-mdm2 / Q000235:genetics*; D012306:Risk
chemical_list: C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2