Human Cancer Genetics Programme

Familial Cancer Clinical Unit

Head of Unit:  Miguel Urioste
Overview

Approximately 1 to 2% of the U.S. population harbours a genetic mutation in well-known genes that confer predisposition to cancer. Carriers of such genetic mutations could benefit from established preventive strategies. For example, more than half a million individuals in the U.S. harbour a pathogenic mutation in a Lynch syndrome gene that confers a high risk of colorectal cancer, a tumour readily preventable through annual colonoscopy. Like Lynch syndrome-related genes, there exist a few dozen of such cancer predisposition genes that could be candidates for carefully focused targeted sequencing, including those responsible for hereditary breast and ovarian cancer syndrome, familial adenomatous polyposis, and hereditary endocrinopathies. Identifying the individuals who have a high risk of developing cancer over time and implementing prevention or early intervention strategies could improve population healt.

Advances in genetic and genomic tools are transforming medical practice and are contributing to the elucidation of the genetic basis of cancer predisposition. It is now easier to identify individuals with a moderate to high risk of developing cancer. However, the use of these new genetic technologies in a clinical setting requires the expertise of genetically educated professionals. The FCCU is committed to spreading the role of genetics in medicine; it takes part in educational initiatives that aid the implementation of genetic and genomic technologies in the clinical setting.