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|Title:||CYP1A1 *2B and *4 polymorphisms are associated with lung cancer susceptibility in Mexican patients|
|Abstract:||We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic origin, mean parental ages, and underlying pathways. Chromosomes involved were 1-9, 13-18, 20-22, and X (64 autosomes and 40 X chromosomes). In the whole series, mean paternal and maternal ages in cases of paternal (proved or possible; n = 29) or maternal (proved or possible; n = 36) descent were 31.14 and 28.31 years, respectively. Rearranged X chromosomes appeared to be of paternal descent and to arise through intrachromosomal non-allelic homologous recombination (NAHR), whereas rec-like autosomes were of either maternal or paternal origin and resulted from mechanisms proper of non-recurrent rearrangements. Except for some mosaic cases, most rearranged chromosomes apparently had a meiotic origin. Except for 8 rearranged X chromosomes transmitted maternally, all other cases compiled here were sporadic. Hence, the recurrence risk for sibs of propositi born to euploid parents is virtually zero, regardless of the imbalance's size. In brief, recombinant-like or rea chromosomes are not related to advanced parental age, may (chromosome X) or may not (autosomes) have a parent-of-origin bias, arise in meiosis or postzygotically, and appear to be mediated by NAHR, nonhomologous end joining, and telomere transposition. Because rearranged chromosomes 10, 11, and Y are also on record, albeit just in abstracts or listed in large series, we remark that all chromosomes can undergo this distinct rearrangement, even if it is still to be described for pairs 12 and 19. Copyright " 2013 S. Karger AG, Basel.",,,,,,"10.1159/000351184",,,"http://hdl.handle.net/20.500.12104/40479","http://www.scopus.com/inward/record.url?eid=2-s2.0-84881159392&partnerID=40&md5=9ad8a8e2bfc46a5a11c3a8a256d58e6b",,,,,,"1",,"Cytogenetic and Genome Research",,"58|
WOS",,,,,,"Cytogenetic nomenclature; de novo; Genomic disorders; Rearranged chromosomes; Recombinant-like chromosomes",,,,,,"De novo dup p/del q or dup q/del p rearranged chromosomes: Review of 104 cases of a distinct chromosomal mutation",,"Article" "42240","123456789/35008",,"Gallegos-Arreola, M.P., Molecular Genetics Laboratory, Division of Molecular Medicine, Centro de Investigación Biomédica de Occidente, Sierra Mojada No. 800 Col. Indepedencia, Guadalajara, Jalisco 44340, Mexico; Figuera-Villanueva, L.E., Division of Genetics, Centro de Investigación Biomédica de Occidente, Guadalajara, Mexico; Troyo-Sanroman, R., Department of Physiology, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico; Morgan-Villela, G., Division of Oncology, Hospital de Especialidades, Centro Médico Nacional de Occidente, Guadalajara, Mexico; Puebla-Pérez, A.M., lmmunopharmacology Laboratory, Division of Molecular Medicine, Centro de Investigación Biomédica de Occidente, Guadalajara, Mexico; Flores-Marquez, M.R., Division of Pathology, Hospital de Especialidades, Centro Médico Nacional de Occidente, Guadalajara, Mexico; Zúñiga-González, G.M., Mutagenesis Laboratory, Division of Molecular Medicine, Centro de Investigación Biomédica de Occidente, Guadalajara, Jalisco, Mexico",,"Gallegos-Arreola, M.P.
Zuniga-Gonzalez, G.M.",,"2008",,"Background: CYP1A1 is a gene involved in the high aryl hydrocarbon hydroxylase -inducible phenotype, which is a genetically-determined variation among individuals that has been associated with lung cancer risk. More specifically, CYP1A1*2B and *4 polymorphisms have been associated with high susceptibility to lung cancer among cigarette smokers. Materials and methods: DNA was obtained from blood samples and we studied by PCR-RFLP the distribution of CYP1A1*2B (n=248) and *4 (n=222) polymorphisms in healthy controls and 222 lung cancer patients from a Mexican population. Results: Comparisons between groups showed an increased risk for lung cancer patients of *2B/*2B (18%; OR 7.6; 95% CI 3.0-19.2) and *4/*4 genotypes (15%; OR 11.45; 95% CI 2.19-59.85) compared to the control group (1% for *2B/*2B and 4.4% for *4/*4). A significant association between lung cancer and homozygous ?2B/*2B passive smokers and *4/*4 ever (cigarettes) and passive smokers was also observed (p<0.05). Multivariate analysis revealed an increased risk for the *2B/2B genotype (OR 6.83), as well as for *4/*4 (OR 28.8). Conclusion: The results of the study indicate a significant association between *2B/*2B and *4/*4 genotypes and the risk of developing lung cancer among Mexicans. " 2008 Wichtig Editore.
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