Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet J, Stickeler E, Kieback D, Kreienberg R, Weber B, Narod S, Runnebaum I. Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. British Journal Of Cancer 1999, 81: 179-183. PMID: 10487631, PMCID: PMC2374363, DOI: 10.1038/sj.bjc.6690669.Peer-Reviewed Original ResearchConceptsOvarian cancer patientsBRCA2 germline mutationsCancer patientsOvarian cancerP53 geneGermline mutationsCarriers of BRCA1Breast-ovarian cancer familiesRisk-modifying effectBRCA2 mutation carriersBp duplication polymorphismUnaffected female carriersRestriction fragment length polymorphismDeleterious BRCA1Healthy controlsBRCA2 mutationsMutation carriersCancer familiesPatientsFemale carriersGermline DNACancerIntronic polymorphismDuplication polymorphismMspI restriction fragment length polymorphismLinkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism
Osier M, Pakstis A, Kidd J, Lee J, Yin S, Ko H, Edenberg H, Lu R, Kidd K. Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism. American Journal Of Human Genetics 1999, 64: 1147-1157. PMID: 10090900, PMCID: PMC1377839, DOI: 10.1086/302317.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DehydrogenaseAlcoholismAllelesBase SequenceChinaChromosomes, Human, Pair 4Cloning, MolecularGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHaplotypesHumansIndians, Central AmericanLinkage DisequilibriumMexicoMolecular Sequence DataMultigene FamilyNative Hawaiian or Pacific IslanderPolymorphism, Single NucleotideRacial GroupsTaiwanConceptsProportion of chromosomesAlcohol dehydrogenase geneDehydrogenase geneChromosome 4Functional variantsChromosomesLinkage disequilibriumADH2Functional polymorphismsADH3Allele frequenciesPairwise disequilibriumGenesIntronic polymorphismDisequilibriumPolymorphismDifferent efficienciesRisk of alcoholismHigher VmaxClass I alcohol dehydrogenase (ADH) genesVariantsLociKbHaplotypesPopulation
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