title: A catalogue of polymorphisms related to xenobiotic metabolism and cancer susceptibility.
abstract: High-throughput genotyping technology of multiple genes based on large samples of cases and controls are likely to be important in identifying common genes which have a moderate effect on the development of specific diseases. We present here a comprehensive list of 313 known experimentally confirmed polymorphisms in 54 genes which are particularly relevant for metabolism of drugs, alcohol, tobacco, and other potential carcinogens. We have compiled a catalog with a standardized format that summarizes the genetic and biochemical properties of the selected polymorphisms. We have also confirmed or redesigned experimental conditions for simplex or multiplex PCR amplification of a subset of 168 SNPs of particular interest, which will provide the basis for the design of assays compatible with high-throughput genotyping.
authors.affiliation: Genome Analysis Group, International Agency for Research on Cancer, Lyon, France.
authors.forename: Federica
authors.initials: F
authors.lastname: Gemignani
authors.forename: Stefano
authors.initials: S
authors.lastname: Landi
authors.forename: Franck
authors.initials: F
authors.lastname: Vivant
authors.forename: Shanbeh
authors.initials: S
authors.lastname: Zienolddiny
authors.forename: Paul
authors.initials: P
authors.lastname: Brennan
authors.forename: Federico
authors.initials: F
authors.lastname: Canzian
mesh_terms: D003577:Cytochrome P-450 Enzyme System / Q000235:genetics* / Q000378:metabolism; D011088:DNA Ligases / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D016147:Genes, Tumor Suppressor / Q000502:physiology*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009369:Neoplasms / Q000235:genetics* / Q000378:metabolism*; D010597:Pharmacogenetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014029:Tobacco Use Disorder / Q000235:genetics*; D015262:Xenobiotics / Q000378:metabolism*
chemical_list: D012333:RNA, Messenger; D015262:Xenobiotics; D003577:Cytochrome P-450 Enzyme System; D011088:DNA Ligases