Aspek Genetik Kanker Kolorektal

Abstract

Kanker kolorektal merupakan masalah kesehatan di dunia. Perkembangan kanker kolorektal memerlukan waktu panjang dan berkaitan dengan faktor lingkungan, genetik dan epigenetik. Patogenesis kanker kolorektal melibatkan tiga jalur yang seringkali tumpang tindih yaitu chromosomal instability (CIN), microsatellite instability (MSI) dan CpG island methylator phenotype (CIMP). Dalam tulisan ini dibahas mengenai kanker kolorektal herediter dan sporadik serta aspek genetiknya. Pemahaman mengenai aspek genetik kanker kolorektal sangat berperan dalam manajemen penyakit ini.

Association of CCND1 Gene Polymorphism rs9344 with Grade and Invasion Degree of Colorectal Cancer at Prof. Dr. I.G.N.G. Ngoerah Central General Hospital

“…The Wnt/β-catenin pathway plays an important role in metabolism and biological processes and in cells. In addition to acting as a regulator of homeostasis, this pathway also involved in various human diseases, especially cancer [11].…”

“…The abnormal Wnt/β-catenin pathway is characterized by the presence of mutations on chromosome 5q that encode APC proteins or adenomatous polyposis as negative regulators of β-catenin in the cytoplasm. Almost about 90% of colorectal cancer cases are caused by mutations in this pathway, specifically mutations in APC [10], [11].…”

“…The CIN pathway is the most common cause of genomic instability in the CRC. It has 65-70% role in sporadic CRC [11].…”