title: Implications of a RAD54L polymorphism (2290C/T) in human meningiomas as a risk factor and/or a genetic marker.
abstract: BACKGROUND
  RAD54L (OMIM 603615, Locus Link 8438) has been proposed as a candidate oncosupressor in tumours bearing a non-random deletion of 1p32, such as breast or colon carcinomas, lymphomas and meningiomas. In a search for RAD54L mutations in 29 menigiomas with allelic deletions in 1p, the only genetic change observed was a silent C/T transition at nucleotide 2290 in exon 18. In this communication the possible association of the 2290C/T polymorphism with the risk of meningiomas was examined. In addition, the usefulness of this polymorphism as a genetic marker within the meningioma consensus deletion region in 1p32 was also verified. The present study comprises 287 blood control samples and 70 meningiomas from Spain and Ecuador. Matched blood samples were only available from Spanish patients.
  
  
  RESULTS
  The frequency of the rare allele-T and heterozygotes for the 2290C/T polymorphism in the blood of Spanish meningioma patients and in the Ecuadorian meningioma tumours was higher than in the control population (P < 0.05). Four other rare variants (2290C/G, 2299C/G, 2313G/A, 2344A/G) were found within 50 bp at the 3' end of RAD54L. Frequent loss of heterozygosity for the 2290C/T SNP in meningiomas allowed to further narrow the 1p32 consensus region of deletion in meningiomas to either 2.08 Mbp - within D1S2713 (44.35 Mbp) and RAD54L (46.43 Mbp) - or to 1.47 Mbp - within RAD54L and D1S2134 (47.90 Mbp) - according to recent gene mapping results.
  
  
  CONCLUSIONS
  The statistical analysis of genotypes at the 2290C/T polymorphism suggest an association between the rare T allele and the development of meningeal tumours. This polymorphism can be used as a genetic marker inside the consensus deletion region at 1p32 in meningiomas.
authors.affiliation: Laboratorio de Genética Molecular y Citogenética Humana, Pontificia Universidad Católica de Ecuador, P.O. Box 17-1-2184, Quito, Ecuador. PLEONE@puce.edu.ec <PLEONE@puce.edu.ec>
authors.forename: Paola E
authors.initials: PE
authors.lastname: Leone
authors.forename: Marta
authors.initials: M
authors.lastname: Mendiola
authors.forename: Javier
authors.initials: J
authors.lastname: Alonso
authors.forename: César
authors.initials: C
authors.lastname: Paz-y-Miño
authors.forename: Angel
authors.initials: A
authors.lastname: Pestaña
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000483:Alleles; D014408:Biomarkers, Tumor / Q000235:genetics*; D003596:Cytosine; D004265:DNA Helicases; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008579:Meningioma / Q000235:genetics*; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors; D017678:Sex Distribution; D013030:Spain; D013941:Thymine
chemical_list: D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D003596:Cytosine; D000251:Adenosine Triphosphatases; D004265:DNA Helicases; C103532:RAD54L protein, human; D013941:Thymine