Abstract:
Breast cancer is prevailing all over the world at a very fast pace and now become the leading
cause of death among women. Poor prognosis, reoccurrence of breast cancer, and resistance to
current therapies can cause high mortality rates in infected women therefore this study aims to
identify a novel KLF16 genetic variant to improve diagnostic accuracy, prognosis prediction, and
development of targeted therapies for breast cancer. KLF16 is a gene involved in multiple cancer
signaling pathways and causes cancer progression. In-silico analysis was performed in which the
three-dimensional structure of the protein was validated and the effect of a variant of the
protein’s structure and functions were studied. In experimental analysis, the genotypic data from
breast cancer patients and healthy individuals was retrieved, and their association with the
KLF16 missense variant rs761994763 was analyzed. The CC genotype has the highest frequency
distribution in samples of patients indicating its potential link with breast cancer. This study
helps to identify novel KLF16 variants, better understand the effect of the variant on the structure
and function of the KLF16 protein, and uncover the association between the KLF16 variant and
breast cancer in Pakistan.