ATM variants and cancer risk in breast cancer patients from Southern Finland

Tommiska, Johanna; Jansen, Laila; Kilpivaara, Outi; Edvardsen, Hege; Kristensen, Vessela N.; Tamminen, Anitta; Aittomäki, Kristiina; Blomqvist, Carl; Børresen-Dale, Anne Lise; Nevanlinna, Heli

doi:10.1186/1471-2407-6-209

Cited by 24 publications

(31 citation statements)

References 39 publications

(49 reference statements)

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“…1-2% of Caucasians are thought to be homozygotes with clinical symptoms of ataxia-telangiectasia (3,11,17,19). The Finnish population reveals a heterozygosity of 37% and homozygosity of 5% (28). A low distribution of the 5557A, on the other hand, was described in African-American, latino, and Japanese population groups (8%, 13-14% and 6%, respectively) (5,14).…”

Section: Resultsmentioning

confidence: 99%

“…The 5557A allele was found to be in strong linkage disequilibrium with the IVS38-8T>C ATM variant (in cis position) in breast and prostate cancer (2,14,15). Other authors, however, did not support any association between these mutations and breast cancer (28). Kim et al described the role of specific haplotypes in the ATM gene in the development of lung cancer in the Korean population (16).…”

Section: Resultsmentioning

confidence: 99%

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Analysis of D1853N ATM Polymorphism in Radiosensitive Patients with Cervical Carcinoma

Beránek¹,

Drastíková²,

Paulíková³

et al. 2011

Acta Med. (Hradec Kralove, Czech Repub.)

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Summary: Clinical oncologists have been focusing their efforts on attempting to define risk groups of patients with unusual biological reactions to the recommended therapy regimens using molecular biology techniques. The aims of our study were: (i) to find a design and validate a method for fast and reliable analysis of the D1853N (5557G>A) genetic polymorphism in the ATM (ataxia-telangiectasia mutated) gene; (ii) to use side-directed mutagenesis to generate ATM 5557A-positive DNA (reference ATM5557A DNA); and (iii) to analyze a group of patients suffering from cervical carcinoma with adverse responses to radiotherapy. The 5557A variant was found in three of twenty women (15%). Our data show that the prevalence of the 5557A allelic variant in cervical cancer subjects with adverse responses after irradiation probably does not differ from the prevalence common in Caucasians. A larger population study should confirm these preliminary results.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Analysis of D1853N ATM Polymorphism in Radiosensitive Patients with Cervical Carcinoma

Beránek¹,

Drastíková²,

Paulíková³

et al. 2011

Acta Med. (Hradec Kralove, Czech Repub.)

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“…Most of these studies have failed to show an elevated breast cancer risk associated with ATM mutations or polymorphisms (Tommiska et al 2006;Einarsdottir et al 2006).…”

Section: Introductionmentioning

confidence: 93%

“…The selection of these kind of cases increases the likelihood to Wnd susceptibility alleles (Antoniou and Easton 2003). There are however reports that ATM variations are not found more frequently in early onset breast cancer cases (FitzGerald et al 1997) or familial breast cancer cases (Tommiska et al 2006).…”

Section: Introductionmentioning

confidence: 97%

Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer

Schrauder

Frank

Strissel

et al. 2008

J Cancer Res Clin Oncol

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“…This variant is located in intron 38 of the ATM gene and has been studied in different populations with divergent results concerning its association or not with BC. For instance, in Southern Finland, 20 in a study of two groups of cases, one comprising 786 women with familial BC, the other with 818 patients not selected for familial history, and 708 healthy controls, analyzed this variant and the polymorphism 5557G>A. The result was that neither of these two variants was significantly associated with the risk for BC.…”

Section: Studies In Intronic Variant Ivs38-8t>cmentioning

confidence: 99%

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

Calderón-Zúñiga¹,

Ocampo-Gomez²,

López-Márquez³

et al. 2014

Salud Publica Mex

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ResumenObjetivo. Evaluar si en la población mexicana las frecuencias de los polimorfismos IVS-9delT, IVS38-8T>C y 5557G>A en casos de cáncer de mama y en controles sanos son diferentes de las encontradas en otros países. Material y métodos. Los polimorfismos IVS24-9delT, IVS38-8T>C y 5557G>A fueron analizados mediante PCR-RFLPs en 94 pacientes con CM de tipo familiar o de inicio temprano y 97 testigos seleccionadas de forma aleatoria. El análisis de la frecuencia alélica se hizo mediante χ 2 y equilibrio de HardyWeinberg. Resultados. Las frecuencias de heterocigotos fueron 5557G>A, 13% de casos, 0% de testigos (p=0.0009); IVS24-9delT, 21% de casos, 8% de testigos (p=0.0122); IVS38-8T>C, sólo un caso. 5557G>A y IVS24-9delT fueron más frecuentes en casos que en testigos. Las frecuencias alélicas encontradas en 5557G>A son similares a las descritas por González-Hormazábal en Chile. Conclusión. La similitud de resultados en este polimorfismo entre la población chilena y mexicana puede ser debida a que ambas son mestizas con un componente amerindio-español. Las diferencias encontradas podrían explicarse porque la población chilena tiene mayor componente europeo que la mexicana. AbstractObjective. 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. 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 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. 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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ATM variants and cancer risk in breast cancer patients from Southern Finland

Cited by 24 publications

References 39 publications

Analysis of D1853N ATM Polymorphism in Radiosensitive Patients with Cervical Carcinoma

Analysis of D1853N ATM Polymorphism in Radiosensitive Patients with Cervical Carcinoma

Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer

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

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