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Volume 6 Supplement 6

Beyond the Genome 2012

  • Poster presentation
  • Open Access

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

  • 1 and
  • 1
BMC Proceedings20126 (Suppl 6) :P50

https://doi.org/10.1186/1753-6561-6-S6-P50

  • Published:

Keywords

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

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.

Authors’ Affiliations

(1)
Department of Zoology, Sri Venkateswara University, Tirupati, 517502, India

References

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  2. Varna M, Bousquet G, Plassa LF, Bertheau P, Janin A: TP53 status and response to treatment in breast cancers. J Biomed Biotechnol. 2011, 2011: 284584-PubMed CentralView ArticlePubMedGoogle Scholar
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  4. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 2010, 7: 248-249. 10.1038/nmeth0410-248.PubMed CentralView ArticlePubMedGoogle Scholar

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