title: ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer.
abstract: OBJECTIVE
  To assess whether in Mexican population the frequencies of ATM polymorphisms IVS24-9delT, IVS38-8-T>C, and 5557G>A in breast cancer (BC) cases and healthy controls were different from those found in other countries.
  
  
  METHODS
  Frequencies of polymorphisms conferring BC risk IVS24-9delT, IVS38-8T>C, and 5557G>A were analyzed by PCR-RFLP in 94 patients with familial and/or early onset BC, and 97 healthy controls randomly selected. Allele frequencies analysis was done using χ(2) and Hardy-Weinberg test.
  
  
  RESULTS
  Frequencies of heterozygous were: for 5557G>A, 13% cases, 0%controls (p=0.0009); for IVS24-9delT, 21% cases, 8% controls (p=0.0122); for IVS38-8T>C, only one case. 5557G>A and IVS24-9delT were more frequent in cases than in controls. The allelic frequencies found in 5557G>A are similar to those described by González-Hormazábal in Chile.
  
  
  CONCLUSIONS
  The similarity of results in this polymorphism between Chilean and Mexican populations may be due to both being crossbred with an Amerindian-Spanish component, while differences may be due to fact that Chilean population has a greater European component than Mexican's.
authors.affiliation: Centro de Investigación Biomédica, Universidad Autónoma de Coahuila, Torreón, Coahuila, México.
authors.forename: Fabiola del Carmen
authors.initials: Fdel C
authors.lastname: Calderón-Zúñiga
authors.affiliation: Centro de Investigación Biomédica, Universidad Autónoma de Coahuila, Torreón, Coahuila, México.
authors.forename: Guadalupe
authors.initials: G
authors.lastname: Ocampo-Gómez
authors.affiliation: Centro de Investigación Biomédica, Universidad Autónoma de Coahuila, Torreón, Coahuila, México.
authors.forename: Francisco Carlos
authors.initials: FC
authors.lastname: López-Márquez
authors.affiliation: Centro de Investigación Biomédica, Universidad Autónoma de Coahuila, Torreón, Coahuila, México.
authors.forename: Rogelio
authors.initials: R
authors.lastname: Recio-Vega
authors.affiliation: Centro de Investigación Biomédica, Universidad Autónoma de Coahuila, Torreón, Coahuila, México.
authors.forename: Luis Benjamín
authors.initials: LB
authors.lastname: Serrano-Gallardo
authors.affiliation: Centro de Investigación Biomédica, Universidad Autónoma de Coahuila, Torreón, Coahuila, México.
authors.forename: Pablo
authors.initials: P
authors.lastname: Ruiz-Flores
mesh_terms: D000328:Adult; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002677:Chile; D005260:Female; D006801:Humans; D008800:Mexico; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins