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Volume 6 Supplement 6

Beyond the Genome 2012

Structural effect of P278A mutation conferring breast cancer susceptibility in the p53 DNA-binding core domain

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 [1]. 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 [2]. We have analyzed the genetic variation that may alter the expression and function of the TP53 gene using the sequence-homology-based SIFT tool [3] and a structure-based approach using the PolyPhen-2 server [4]. 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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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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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 (Suppl 6), P50 (2012).

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  • Breast Cancer
  • Genetic Variant
  • Relative Risk
  • Candidate Gene
  • Computational Approach