title: [Cancer pharmacogenetics: study of genetically determined variations on cancer susceptibility due to xenobiotic exposure].
abstract: Pharmacogenetics is the study of genetically determined variations in the response to drugs and toxic agents, and their implications on disease. Recently, the discipline has acquired great relevancy due to the development of non-invasive molecular techniques that identify genetic variants in human beings. There is also a need to explain the individual differences in susceptibility to drug actions and disease risk. Genetic variants can modify the magnitude of a pharmacologic effect, toxicity threshold, secondary effects and drug interactions. There are approximately thirty families of drug-metabolizing enzymes with genetic variants that cause functional alterations and variations in pharmacologic activity. We summarize the general knowledge about genetic variants of biotransformation enzymes, their relationship with cancer risk and the role of ethnicity. Cancer pharmacogenetics is another promising and exciting research area that will explain why people with an almost identical group of genes, have a different susceptibility to cancer, whose etiology has genetic and environmental components.
authors.affiliation: Laboratorio de Carcinogénesis Química y Farmacogenética, ICBM, Facultad de Medicina, Universidad de Chile, Santiago, Chile. lquinone@med.uchile.cl
authors.forename: Luis
authors.initials: L
authors.lastname: Quiñones
authors.forename: Kuen
authors.initials: K
authors.lastname: Lee
authors.forename: Nelson
authors.initials: N
authors.lastname: Varela F
authors.forename: Mario
authors.initials: M
authors.lastname: Escala
authors.forename: Karen
authors.initials: K
authors.lastname: García
authors.forename: Loreto
authors.initials: L
authors.lastname: Godoy
authors.forename: Andrés
authors.initials: A
authors.lastname: Castro
authors.forename: Jorge
authors.initials: J
authors.lastname: Soto
authors.forename: Iván
authors.initials: I
authors.lastname: Saavedra
authors.forename: Dante
authors.initials: D
authors.lastname: Cáceres
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics* / Q000378:metabolism; D001711:Biotransformation / Q000235:genetics; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics / Q000378:metabolism; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics / Q000378:metabolism; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009369:Neoplasms / Q000201:enzymology / Q000235:genetics*; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D015262:Xenobiotics / Q000378:metabolism*
chemical_list: D015262:Xenobiotics; D019392:Cytochrome P-450 CYP2E1; D001189:Aryl Hydrocarbon Hydroxylases; D019363:Cytochrome P-450 CYP1A1; D005982:Glutathione Transferase