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Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism |
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| Authors: | Gochhait Sailesh Bukhari Syed Irfan Ahmad Bairwa Narendra Vadhera Shivani Darvishi Katayoon Raish Mohammad Gupta Pawan Husain Syed Akhtar Bamezai Rameshwar N K |
| Affiliation: | (1) National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, Aruna Asafali Road, 110067 New Delhi, India;(2) Human Genetics Laboratory, Department of Biosciences, Jamia Milia Islamia, Maulana Mohammad Ali Zohar Road, 110025 New Delhi, India;(3) Dharamshila Cancer Hospital and Research Institute, Dharamshila Marg, Vasundhara Enclave, 110096 Delhi, India |
| Abstract: | IntroductionThe absence of mutation or promoter hypermethylation in the BRCA2 gene in the majority of breast cancer cases has indicated alternative ways of its involvement, deregulated expression being one possibility. We show how a polymorphism in the 5' untranslated region (UTR) of BRCA2 can serve as one such factor. Based on the hypothesis that variants of genes involved in the same pathway can influence the risk provided for breast cancer, the status of p53 codon 72 polymorphism was also investigated and a possible interaction between the polymorphisms was examined. |
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