According to studies, persons with Lynch syndrome, which is defined by a compromised DNA mismatch repair mechanism, represent the majority of those who inherit a propensity to EOCRC.
Those with this syndrome are more likely to develop additional cancers due to high levels of microsatellite instability. However, only a small portion of the reported increase in EOCRC may be attributed to the harmful germline mutations found in Lynch syndrome.
Using environmental risk scores and polygenic risk scores (PRSs), it may be possible to target CRC screening for young people. However, large-scale genome-wide association studies (GWAS) including investigations of the interactions between genes and the environment should provide a clearer picture of the role that genetic factors play in the development of early-onset CRC.
Moreover, mutational signatures, or distinctive patterns of mutations connected to the etiology of CRC, such as increased red meat consumption prior to CRC diagnosis.
Whole-genome sequencing could be used to identify Escherichia coli (E.coli) (WGS). Its deconvolution from EOCRC patients and incorporation with epidemiological data may subsequently aid in the identification of mutagenic mechanisms underlying the carcinogenesis of EOCRC.
Different embryologic origins and exposure to distinct stimuli along the gut in left-sided cancers explain the various mutational profiles seen in the colon. Due to this, defining the molecular landscape of EOCRC, including its clinical and pathologic symptoms, is difficult for next-generation sequencing panels assessing the somatic mutational landscape of EOCRCs.
It’s interesting to note that younger people with CRC also exhibit hypomethylation of the transposable long interspersed nuclear element 1 (LINE-1) elements more frequently.
