Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women : a meta-analysis
Joint Authors
Maruf, ٍٍShayma
Hajji, Umar
Tazzite, Amal
Jouhadi, Hassan
Benider, Abd al-Latif
Nadifi, Sellama
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 18, Issue 4 (31 Oct. 2017), pp.329-334, 6 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2017-10-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Background: The ATM gene encoding a large protein kinase is mutated in ataxia-telangiectasia (AT), an autosomale recessive disease characterized by neurological and immunological symptoms, and cancer predisposition.
Previous studies suggest that heterozygous carriers of ATM mutations have an increased risk of breast cancer compared with non carriers, but the contribution of specific variants has been difficult to estimate.
However, two functional ATM variants, c.7271T > G and c.1066–6T > G (IVS10–6T > G), are associated with increased risk for the development of breast cancer.
Methods: To investigate the role of ATM in breast cancer susceptibility, we genotyped 163 case patients with breast cancer and 150 healthy control individuals for the c.7271T > G and c.1066–6T > G (IVS10–6T > G) ATM variants using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis.
Results: We did not detect the ATM c.7271T > G and c.1066–6T > G (IVS10–6T > G) mutations in any of 150 healthy control individuals and 163 breast cancer patients, including 59 women diagnosed with breast cancer at an early age (<40 years), 10 women with bilateral breast cancer, and 6 women with ovarian cancer.
Conclusion: These observations suggested that the more common c.1066–6T > G (IVS10–6T > G) mutation and the rare c.7271T > G variant are not a risk factor for developing breast cancer in the Moroccan population.
Larger and/or combined association studies are needed to clarify this issue.-
American Psychological Association (APA)
Maruf, ٍٍShayma& Hajji, Umar& Tazzite, Amal& Jouhadi, Hassan& Benider, Abd al-Latif& Nadifi, Sellama. 2017. Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women : a meta-analysis. The Egyptian Journal of Medical Human Genetics،Vol. 18, no. 4, pp.329-334.
https://search.emarefa.net/detail/BIM-760289
Modern Language Association (MLA)
Maruf, ٍٍShayma…[et al.]. Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women : a meta-analysis. The Egyptian Journal of Medical Human Genetics Vol. 18, no. 4 (Oct. 2017), pp.329-334.
https://search.emarefa.net/detail/BIM-760289
American Medical Association (AMA)
Maruf, ٍٍShayma& Hajji, Umar& Tazzite, Amal& Jouhadi, Hassan& Benider, Abd al-Latif& Nadifi, Sellama. Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women : a meta-analysis. The Egyptian Journal of Medical Human Genetics. 2017. Vol. 18, no. 4, pp.329-334.
https://search.emarefa.net/detail/BIM-760289
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 333-334
Record ID
BIM-760289