ABSTRACT

Hereditary colorectal cancer is important. It is important because it is an accelerated, amplified and multifocal form of carcinogenesis that has a major impact on the lives of those affected by it. It is important because of the opportunities it offers to learn about sporadic colorectal carcinogenesis, and it is important because it is a family disease with effects on not only the affected patient but also their entire family. All colorectal neoplasia is genetic. In other words, neoplasia arises from an accumulation of genetic abnormalities in colonocyte nuclei – abnormalities that lead to progressive deregulation of cell growth. Most of the genetic abnormalities are mutations that lead to abnormal gene expression and arise by chance in clones of stem cell progeny at the base of the crypts. DNA is the ‘molecule of life’ as it carries the codes for every protein used to sustain and subserve cellular function.