Analysing the Pathogenicity of KLF6 Variants in Breast Cancer

Abstract

Breast cancer is a heterogenous disease-causing mortality and morbidity in females around globe. For this, the study of KLF6 can prove to be beneficial in treating breast cancer. KLF6 belongs to a family of transcriptional regulators. KLF6 is a tumor suppressor gene and helps in upregulation of apoptosis and downregulation of processes like, invasion, metastasis, and angiogenesis. In this study, computational and experimental analysis will be performed. Data is retrieved from ensemble and checked for pathogenicity using SIFT and POLYPHAN. Functional and structural validation is performed through Alpha-Fold. Mutations are then introduced in the structure using in silico mutagenesis via pyMOL. Lastly, the structure and functional analysis will be performed using I-MUTANT, Dynamut, Project HOPE, MutPred2 and MUpro. In experimental analysis, the samples of only females above 30 with confirmed breast cancer cases are collected while all other cases are excluded. Blood-based genotyping is performed, and the DNA is statistically analysed. The expected outcomes will be identification of novel missense variant of KLF6 gene, its association, and a potential biomarker in breast cancer. In experimental analysis, the samples of only females with confirmed breast cancer cases are collected while all other cases are excluded. Blood based genotyping is performed, and the DNA is statistically analysed. The outcomes showed, significant association of genotype GG and AG was found with breast cancer and no family history was associated with breast cancer.