| [ Summary ] |
Representative hereditary colorectal diseases include hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, MYH-associated polyposis, as well as hamartomatous polyposis syndromes, such as Peutz-Jeghers syndrome, juvenile polyposis syndrome, and PTEN hamartoma tumor syndrome. Each syndrome has its own distinctive organ-specific manifestations, and each requires a different surveillance strategy. Fortunately, the availability of clinical genetic testing for these disorders allows for accurate diagnosis and detailed information regarding the risk of colonic and extracolonic cancers as well as benign lesions. It is also useful for optimal cancer surveillance regimens for affected patients. Genetic testing also allows for predictive testing in at-risk family members. Furthermore, recent advances in molecular research offer insights into the disease mechanisms, such as mismatch repair pathway, RAS / RAF / mitogen activated protein kinase pathway, Wnt signaling pathway, and base excision repair pathway, which may underlie the development of sporadic colorectal cancer. Further accumulation of phenotypic data from patients in clinical settings and extensive molecular and cellular research into these syndromes are required to gain insight into sporadic malignancy, including colorectal cancer, and to develop new target therapies and preventive strategies. |