Structural effect of P278A mutation conferring breast cancer susceptibility in the p53 DNA-binding core domain
| Autor: | Y. Suneetha, C Kumaraswamy Naidu |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Candidate gene
Mutation biology business.industry lcsh:R lcsh:Medicine Cancer General Medicine Bioinformatics medicine.disease_cause medicine.disease General Biochemistry Genetics and Molecular Biology CDH1 Breast cancer Poster Presentation Genetic variation Cancer research biology.protein Medicine PTEN lcsh:Q Risk factor lcsh:Science business |
| Zdroj: | BMC Proceedings BMC Proceedings, Vol 6, Iss Suppl 6, p P50 (2012) |
| ISSN: | 1753-6561 |
| DOI: | 10.1186/1753-6561-6-s6-p50 |
| Popis: | One of the common malignancies faced by womenaround the world is breast cancer. Risk factors for breastcancer include both genetic and non-genetic. Variants insome of the candidate genes are a common risk factor inbreast cancer. These genetic variants associated withbreast cancer can be classified as high, moderate or lowbased on relative risk [1]. Among them, genes that pre-dispose to high risk for breast cancer include TP53 ,BRCA1 ,BRCA2 ,PTEN ,STK11 and CDH1. A large num-ber of studies have assessed the prognostic and predictiverole of TP53 alterations in breast cancer. It is well knownthat TP53 is mutated in about 30% of breast cancers [2].We have analyzed the genetic variation that may alter theexpression and function of the TP53 gene using thesequence-homology-based SIFT tool [3] and a structure-based approach using the PolyPhen-2 server [4]. Thesetwo computational approaches showed that rs17849781(P278A) has a deleterious phenotypic effect conferring tobreast cancer. Further, we have analyzed the structuraleffect of the P278A mutation in the p53 DNA-bindingcore domain by employing different computationalmethods. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|