The development of genome-wide massively parallel sequencing, such as 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.
|The identification of genes associated with hereditary non-polyposis colorectal cancer has proven extremely challenging|
|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.
The researcher reports that 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.
Most novel candidate non-polyposis colorectal cancer genes identified so far lack corroborative data in independent studies.
Dr Valle's team concludes, "We review the candidate genes proposed in recent years as well as discuss the challenges we face."