title: The cytochrome P450 2D6 (CYP2D6) gene polymorphism among breast and head and neck cancer patients.
abstract: The prevalence of CYP2D6*3 and CYP2D6*4 alleles in normal controls and cancer patients was studied using the reliable PCR-SSCP method. In the control group (n=144), four subjects (2.8%) were found to carry CYP2D6*3 allele (heterozygote), while 30 (20.8%) subjects carried CYP2D6*4 allele (18.8% heterozygotes, 2.1% homozygotes). One (1.3%) of the breast cancer (BC) patients (n=76) carried CYP2D6*3 allele, but 24 (31.6%) carried CYP2D6*4 allele (26.3% heterozygotes, 5.3% homozygotes). In the head and neck cancer (HNC) group (n=56), two (3.6%) patients were heterozygous for CYP2D6*3 mutation and 15 (26.8%) for CYP2D6*4 mutation. Fourteen of 56 (25%) and one of 56 (1. 8%) of these patients carried heterozygous and homozygous mutations, respectively. In controls, 2.1% were identified as poor metabolizers (PM), 76.4% as extensive metabolizers (EM), and 21.5% as intermediate heterozygotes (IEM). In BC group, 5.3, 27.6 and 67.1% were classified as PM, IEM and EM, respectively. In HNC group, the incidence of PM was 1.8, but as many as 28.6% were identified as IEM phenotypes.
authors.affiliation: Clinical Institute of Chemistry, School of Medicine, University of Zagreb and Sestre Milosrdnice University Hospital, Vinogradska c. 29, 10000, Zagreb, Croatia. elizabeta.topic@zg.tel.hr
authors.forename: E
authors.initials: E
authors.lastname: Topić
authors.forename: M
authors.initials: M
authors.lastname: Stefanović
authors.forename: A M
authors.initials: AM
authors.lastname: Ivanisević
authors.forename: R
authors.initials: R
authors.lastname: Petrinović
authors.forename: I
authors.initials: I
authors.lastname: Curcić
mesh_terms: D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D016368:Frameshift Mutation; D005838:Genotype; D006258:Head and Neck Neoplasms / Q000201:enzymology*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D019389:Cytochrome P-450 CYP2D6