title: [Genetic base of esophageal squamous cell carcinoma susceptibility].
abstract: The esophageal squamous cell carcinoma is multifactorial disease involving genetic and environmental factors. The paper presents most important human data on the polymorphisms of selected genes that have been linked with higher risk of the neoplasm. The most widely studied group were genes encoded molecules engaged in biotransformations of xenobiotics, in particular potential carcinogens, like alcohol (ADH2) and aldehyde (ALDH2) dehydrogenases, various isoenzymes of cytochrome P450 (CYP1A1, CYP2E1) and glutathione S-transferase (GSTM1, GSTT1, GSTP1). High interest was also put for polymorphism in DNA repair genes, i.e., OGG1, XRCC1, XPD, XPG and MGMT as well as genes associated with nucleotide biosyntesis like methylenotetrahydrofolate reductase and thymidylate synthase and in control of cell cycle and apoptosis e.g., p53, Fas, FasL or TNF. Furthermore, it was revealed that predisposition to cancer in certain individual could be determined by coexistence of unprofitable allele of a few genes. Introduction of genetic screening test allows effective, purpose-oriented methods of prevention and in patients suffered from the cancer--application of optimal therapy and minimization of side-effects.
authors.affiliation: Medical University of Lublin, Poland. jszumilo@wp.pl
authors.forename: Justyna
authors.initials: J
authors.lastname: Szumiło
authors.forename: Barbara
authors.initials: B
authors.lastname: Marzec
authors.forename: Michał
authors.initials: M
authors.lastname: Szumiło
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Korobowicz
authors.forename: Franciszek
authors.initials: F
authors.lastname: Burdan
mesh_terms: D017209:Apoptosis / Q000235:genetics; D002273:Carcinogens / Q000633:toxicity; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology / Q000517:prevention & control; D002453:Cell Cycle / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000139:chemically induced / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000517:prevention & control; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D002273:Carcinogens; D004268:DNA-Binding Proteins