PMID: 18724707Aug 30, 2008Paper

Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
R RajasekaranRao Sethumadhavan

Abstract

In this work, we have analyzed the genetic variation that can alter the expression and the function in BRCA2 gene using computational methods. Out of the total 534 SNPs, 101 were found to be non synonymous (nsSNPs). Among the 7 SNPs in the untranslated region, 3 SNPs were found in 5' and 4 SNPs were found in 3' un-translated regions (UTR). Of the nsSNPs 20.7% were found to be damaging by both SIFT and PolyPhen server among the 101 nsSNPs investigated. UTR resource tool suggested that 2 SNPs in the 5' UTR region and 4 SNPs in the 3' UTR regions might change the protein expression levels. The mutation from asparagine to isoleucine at the position 3124 of the native protein of BRCA2 gene was most deleterious by both SIFT and PolyPhen servers. A structural analysis of this mutated protein and the native protein was made which had an RMSD value of 0.301 nm. Based on this work, we proposed that this most deleterious nsSNP with an SNPid rs28897759 is an important candidate for the cause of breast cancer by BRCA2 gene.

Citations

Jul 20, 2012·BMC Medical Genetics·Kevin ZbukSonia S Anand
May 1, 2013·Reproduction : the Official Journal of the Society for the Study of Fertility·Guixiang JiXinru Wang
Apr 22, 2010·Journal of Theoretical Biology·Ardashir Kharabian
May 22, 2019·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Dongke MaXin Di
Feb 18, 2020·Clinical and Translational Medicine·Howeida Abdullah MustafaHind Abdelaziz Elnasri
Dec 14, 2018·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Min ZuoWan-Zhong Li
May 1, 2021·Frontiers in Oncology·Wenyu LiTingtao Chen
Oct 12, 2021·Nucleosides, Nucleotides & Nucleic Acids·Tahereh ZahediJahan-Bakhsh Raoof

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.