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.
