The development of genome-wide massively parallel sequencing, ie, whole-genome and whole-exome sequencing, and copy number approaches has raised high expectations for the identification of novel hereditary colorectal cancer genes.
Dr Laura Valle and colleagues from Spain reviewed the novel hereditary colorectal cancer genes and syndromes identified, and the candidate genes proposed in recent years.
|Novel candidate non-polyposis colorectal cancer genes identified lack corroborative data|
|Clinical Gastroenterology & Hepatology|
Although relatively successful for genes causing adenomatous polyposis syndromes, both autosomal dominant and recessive, the identification of genes associated with hereditary non-polyposis colorectal cancer has proven extremely challenging.
This is mainly because of the absence of major high-penetrance genes and the difficulty in demonstrating the functional impact of the identified variants and their causal association with tumor development.
The team noted that most, if not all, novel candidate non-polyposis colorectal cancer genes identified so far lack corroborative data in independent studies.
Dr Valle's team comments, "Here we discuss the challenges we face in identifying novel hereditary colorectal cancer genes and syndromes identified and the candidate genes."