ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer

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

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Main Authors: Fabiola del Carmen Calderón-Zúñiga, Guadalupe Ocampo-Gómez, Francisco Carlos López-Márquez, Rogelio Recio-Vega, Luis Benjamín Serrano-Gallardo, Pablo Ruiz-Flores
Format: Article
Language:English
Published: Instituto Nacional de Salud Pública 2014-03-01
Series:Salud Pública de México
Subjects:
Online Access:http://www.saludpublica.mx/index.php/spm/article/view/7336
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author Fabiola del Carmen Calderón-Zúñiga
Guadalupe Ocampo-Gómez
Francisco Carlos López-Márquez
Rogelio Recio-Vega
Luis Benjamín Serrano-Gallardo
Pablo Ruiz-Flores
author_facet Fabiola del Carmen Calderón-Zúñiga
Guadalupe Ocampo-Gómez
Francisco Carlos López-Márquez
Rogelio Recio-Vega
Luis Benjamín Serrano-Gallardo
Pablo Ruiz-Flores
author_sort Fabiola del Carmen Calderón-Zúñiga
collection DOAJ
description Objective. To assess whether in Mexican population the frequencies of ATM polymorphisms IVS24-9delT, IVS38-8T mayor que C, and 5557G mayor que 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 mayor que C, and 5557G mayor que 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 mayor que A, 13% cases, 0%controls (p=0.0009); for IVS24-9delT, 21% cases, 8% controls (p=0.0122); for IVS38-8T mayor que C, only one case. 5557G mayor que A and IVS24-9delT were more frequent in cases than in controls. The allelic frequencies found in 5557G mayor que 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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spelling doaj.art-e98b321fd885442b90845f3d0f368b092022-12-22T01:25:15ZengInstituto Nacional de Salud PúblicaSalud Pública de México0036-36341606-79162014-03-0156220621210.21149/spm.v56i2.733615795ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancerFabiola del Carmen Calderón-Zúñiga0Guadalupe Ocampo-Gómez1Francisco Carlos López-Márquez2Rogelio Recio-Vega3Luis Benjamín Serrano-Gallardo4Pablo Ruiz-Flores5Centro de Investigación Biomédica, Universidad Autónoma de Coahuila. Torreón, Coahuila, México.Centro de Investigación Biomédica, Universidad Autónoma de Coahuila. Torreón, Coahuila, México.Centro de Investigación Biomédica, Universidad Autónoma de Coahuila. Torreón, Coahuila, México.Centro de Investigación Biomédica, Universidad Autónoma de Coahuila. Torreón, Coahuila, México.Centro de Investigación Biomédica, Universidad Autónoma de Coahuila. Torreón, Coahuila, México.Centro de Investigación Biomédica, Universidad Autónoma de Coahuila. Torreón, Coahuila, México.Objective. To assess whether in Mexican population the frequencies of ATM polymorphisms IVS24-9delT, IVS38-8T mayor que C, and 5557G mayor que 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 mayor que C, and 5557G mayor que 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 mayor que A, 13% cases, 0%controls (p=0.0009); for IVS24-9delT, 21% cases, 8% controls (p=0.0122); for IVS38-8T mayor que C, only one case. 5557G mayor que A and IVS24-9delT were more frequent in cases than in controls. The allelic frequencies found in 5557G mayor que 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.http://www.saludpublica.mx/index.php/spm/article/view/7336ataxia telangiectasia mutated (ATM)breast cancersingle nucleotide polymorphisms (SNP)
spellingShingle Fabiola del Carmen Calderón-Zúñiga
Guadalupe Ocampo-Gómez
Francisco Carlos López-Márquez
Rogelio Recio-Vega
Luis Benjamín Serrano-Gallardo
Pablo Ruiz-Flores
ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer
Salud Pública de México
ataxia telangiectasia mutated (ATM)
breast cancer
single nucleotide polymorphisms (SNP)
title ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer
title_full ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer
title_fullStr ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer
title_full_unstemmed ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer
title_short ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer
title_sort atm polymorphisms ivs24 9delt ivs38 8t c and 5557g a in mexican women with familial and or early onset breast cancer
topic ataxia telangiectasia mutated (ATM)
breast cancer
single nucleotide polymorphisms (SNP)
url http://www.saludpublica.mx/index.php/spm/article/view/7336
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