Steps toward Molecular Diagnostics in Early Detection of Familial Colorectal Cancer: Insights and Emerging Clinical Applications for Hospitals
Abstract
Colorectal cancer (CRC) ranks among those leading causes of cancer-related deaths worldwide, with up to 85% of cases attributed to sporadic mutations. This review research article investigates the molecular characteristics of early detection in CRC familial cases, particularly within hospitals in Medina. The study principally reviews genetic markers, such as; APC, MLH1, and MSH2, which are associated with hereditary CRC syndromes like Lynch syndrome and familial adenomatous polyposis (FAP). However, germ-line (hereditary) CRC syndromes account for only about 5 % of all cases, whereas non-syndrome familial cases, where a family history is present but no single pathogenic mutation is identified, this make up roughly 20–25%. The research also explores the implication of sporadic CRC, which represents the majority of cases and often occurs before the age of 50 due to somatic mutations. Advanced techniques for molecular screening in use such as circulating tumor DNA (ctDNA) analysis, methylation specific PCR (MSP), and miRNA assays are assessed for their effectiveness in early detection of the disease. These methods offer non-invasive and highly sensitive screening choices, particularly for detecting CRC in high-risk subjects. Although this review focuses on genetic mutations, it’s crucial to underline the importance of detecting sporadic mutations, as they are the foremost and pose a growing challenge. The findings emphasized an urgent need for localized screening programs in Medina intended to our local focused population. Screening agendas should integrate molecular diagnostics for both hereditary and sporadic CRC. Our main recommendations include the employment of genetic testing for high-risk families and further surveys into the genetic and environmental factors explicit to our local population in Medina, Saudi Arabia.
Keywords: Molecular diagnostics, Detection, Familial colorectal cancer, Insights, Applications, Medina, Hospitals
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DOI: https://doi.org/10.62940/als.v13i3.3681
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