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Instituto Nacional de Salud Pública

2014, Number 2

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salud publica mex 2014; 56 (2)

Polimorfismos IVS24-9delT, IVS38-8T›C y 5557G›A en el gen ATM en mujeres mexicanas con cáncer de mama familiar o de inicio temprano

Calderón-Zúñiga FC, Ocampo-Gómez G, López-Márquez FC, Recio-Vega R, Serrano-Gallardo LB, Ruiz-Flores P

Language: Spanish
References: 28
Page: 206-212
PDF size: 231.53 Kb.


ABSTRACT

Objective. To assess whether in Mexican population the frequencies of ATM polymorphisms IVS24-9delT, IVS38-8T›C, and 5557G›A in breast cancer (BC) cases and healthy controls were different from those found in other countries. Materials and 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 χ2 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. Conclusion. 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.


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