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Structural effect of P278A mutation conferring breast cancer susceptibility in the p53 DNA-binding core domain
BMC Proceedings volume 6, Article number: P50 (2012)
One of the common malignancies faced by women around the world is breast cancer. Risk factors for breast cancer include both genetic and non-genetic. Variants in some of the candidate genes are a common risk factor in breast cancer. These genetic variants associated with breast cancer can be classified as high, moderate or low based on relative risk . Among them, genes that predispose to high risk for breast cancer include TP53, BRCA1, BRCA2, PTEN, STK11 and CDH1. A large number of studies have assessed the prognostic and predictive role of TP53 alterations in breast cancer. It is well known that TP53 is mutated in about 30% of breast cancers . We have analyzed the genetic variation that may alter the expression and function of the TP53 gene using the sequence-homology-based SIFT tool  and a structure-based approach using the PolyPhen-2 server . These two computational approaches showed that rs17849781 (P278A) has a deleterious phenotypic effect conferring to breast cancer. Further, we have analyzed the structural effect of the P278A mutation in the p53 DNA-binding core domain by employing different computational methods.
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Suneetha, Y., Naidu, C.K. Structural effect of P278A mutation conferring breast cancer susceptibility in the p53 DNA-binding core domain. BMC Proc 6, P50 (2012). https://doi.org/10.1186/1753-6561-6-S6-P50
- Breast Cancer
- Genetic Variant
- Relative Risk
- Candidate Gene
- Computational Approach