Cancer syndromes

The term "cancer syndrome" refers to a cluster of different genetic changes that predispose the individual to the development of cancer later in life. These changes are transmitted in a mendelian autosomal dominant manner.

In such cancer syndromes, there is one germline mutation, which predisposes the individual to the development of the cancer. A further mutation in the second allele results in the development of cancer. As only one allele needs to be mutated (as compared to both in so called "sporadic cancers"), the individual has a higher chance of developing the cancer than the general population.

Cancer syndromes often show development of independent bilateral tumours, early onset of cancers and a high risk of one or only a few cancers.

Examples of some cancer syndromes include mutation of the BRCA1 or BRCA2 genes, which predispose to the development of breast and ovarian cancers or the much more rare, but clinically interesting Li-Fraumeni syndrome, in which there is a germline mutation in the p53 gene which predisposes the individual to the development of a wide array of cancers.