Mehndiratta, D. V. (2025). Molecular diagnostics and genetic testing in cancer: An experimental study of KRAS mutations and a case of CHEK2-linked breast cancer. The Young Researcher, 9(1), 38-51. http://www.theyoungresearcher.com/papers/mehndiratta.pdf

Abstract
Hereditary factors significantly influence cancer risk, particularly through mutations in tumor suppressor genes and oncogenes. This study investigates the role of inherited gene mutations in cancer development, focusing on familial cancer syndromes such as those involving BRCA1/2 and KRAS genes. A KRAS mutation analysis was conducted using RT-PCR on tumor samples, revealing mutations in codon 12 in 3 of 12 cases. Additionally, a case study using whole-exome sequencing of a BRCA1/2-negative breast cancer patient identified a CHEK2 mutation, emphasizing the diagnostic value of extended genetic screening. These findings underscore the clinical relevance of identifying hereditary mutations for early diagnosis, treatment planning, and genetic counseling. The research also explores ethical considerations and the psychological impacts of genetic testing. By combining molecular diagnostics and familial history, the study supports a personalized medicine approach for cancer prevention and management.

Keywords: Hereditary cancers; molecular diagnostics; genetic testing; KRAS mutations; RT PCR

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