title: Lack of association of CYP1 B1*3 polymorphism and ovarian cancer in a Caucasian population.
abstract: CYP1B1 is the enzyme with the highest efficiency of conversion of estradiol to 4-hydroxyestradiol in humans. This metabolite has a well-known carcinogenic effect interacting with genomic DNA and has been hypothesized to be partly responsible for the role played by estrogens in ovarian cancer development. A polymorphism has been described for this enzyme causing a Leu to Val substitution in position 432 (CYP1B1*3). The Val432 allele has a higher efficiency of conversion of estradiol to 4-hydroxyestradiol and has been reported to increase the risk of ovarian cancer. A previous study reported a higher, significant prevalence of CYP1B1*3 polymorphism in ovarian cancer patients of mixed ethnicity. The aim of this study was to investigate the role of CYP1B1*3 polymorphism as a risk factor for ovarian cancer in a Caucasian population. The polymorphism frequency was determined in 223 cases of ovarian cancer and compared with that of 280 healthy female blood donors. Genetic analysis was performed on genomic DNA from PBMC and RFLP methods were used for mutation detection. No significant difference between cases and controls was found. These results do not support a favoring role of CYP1B1*3 in ovarian cancer development in our population.
authors.affiliation: Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico-National Cancer Institute, Aviano, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Cecchin
authors.forename: A
authors.initials: A
authors.lastname: Russo
authors.forename: E
authors.initials: E
authors.lastname: Campagnutta
authors.forename: L
authors.initials: L
authors.lastname: Martella
authors.forename: G
authors.initials: G
authors.lastname: Toffoli
mesh_terms: D000483:Alleles; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D065633:Cytochrome P-450 CYP1B1; D005260:Female; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D007930:Leucine / Q000737:chemistry; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D016017:Odds Ratio; D010051:Ovarian Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D014633:Valine / Q000737:chemistry; D044465:White People
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1; D007930:Leucine; D014633:Valine