Molecular Diagnostics in Colorectal Cancer
Abstract: Colorectal cancer
(CRC) presents in one of three patterns:
sporadic colorectal cancer in those without a family history (65-85%); those
with a family history (familial CRC)
10-25% of cases; inherited CRC accounting for less of 10% cases and
presents as well-characterized cancer predisposition syndromes including Lynch
syndrome (hereditary non-polyposis colorectal cancer/HNPCC) which comprises
about 1-5% of all colorectal cancer, and multiple polyps CRC, which includes
familial adenomatous polyposis (FAP,1%), rare CRC syndrome < 0.1 %).
Many efforts have been made to discover the genetic and molecular
features of CRC, and there is more evidence that these features determine the
prognosis and response to treatment.
Colorectal cancer (CRC) is a heterogeneous disease, with three known major
molecular groups. The most common is the chromosomal instability group,
characterized by an accumulation of mutations
in specific oncogens and tumor suppressor genes. The second is the
microsatellite instability group, caused by the dysfunction of deoxyribonucleic
acid (DNA) mismatch repair genes leading to genetic hypermutability. The CpG
island methylation phenotype (CIMP) is
the third group, distinguished by hypermethylation. In this review we would
like to provide an up-to-date overview of molecular genetic aspects of CRC that are currently
important and should guide clinical practice in colorectal cancer in the
diagnosis and selection of therapy.
Keywords: sporadic colorectal
cancer; molecular diagnostics; CpG island methylation phenotype
Author: Rustam Effendi YS,
Imelda Rey
Journal Code: jpkedokterangg150440
