Hereditary colorectal cancer syndromes

Abstract

Context: In recent decades there has been an increase in hereditary colorectal cancer cases in people under 50 years of age. Several studies revealed similar pathologies with both molecular and clinical variations about hereditary colorectal neoplasms. We subdivided those new pathologies derived from the two groups in which hereditary colorectal cancer is classified: polyposis syndromes and non polyposis syndromes. Evidence Acquisition: The scientific search was done up to July – October, 2020. The search was limited to predefined keywords. The inclusion criteria were articles relevant to the search criteria (keywords). After, Rivera F. and Mendoza Y. looked for the associated articles, removed duplicates, and selected relevant information for our review manuscript. We included 80 scientific articles that met the established criteria. Results: Syndromes were divided according to the presence of polyps or not and their histological type and the classification or subclassification. Also we explain the type of inheritance, the affected genes, the clinical manifestations, the mean age of presentation of the disease and the polyps histology in case the disease has it. So, in this article we facilitated the identification of each syndrome for the reader. Conclusions: Despite representing a low etiology of colorectal cancer, cases of hereditary colorectal cancer show an increased trend over the last years. The development of genetic research has led to the establishment, modification and redefinition of molecular and clinical criteria associated with this pathology. However, there is a small group of patients that don't have molecular or clinical criteria belonging to any classification. Also the limited access or high cost associated with molecular analysis complicates the study of these pathologies and therefore lead to insufficient diagnosis and general treatment. For these reasons, there are still new genetic branches on hereditary colorectal cancer to investigate and thus establish comprehensive treatments for patients.

Keywords

• colorectal neoplasms
• polyps
• colonic polyps
• intestinal polyposis
• hereditary nonpolyposis