Identifying Patients with Familial Cancer Syndromes

Excerpt

The identification of families with familial cancer syndromes would be relatively easy if all the genes for these syndromes were known and all newly diagnosed cancer patients could be screened using genetic testing. However, even if all of the genes were known, there would be several ethical, technical, financial, and other barriers to the introduction of mass genetic screening. Nevertheless, we have seen slow movement in this direction, with the suggested screening of all newly diagnosed patients with colorectal cancer for Lynch syndrome as an example (1). Still, for many years to come, the identification of familial cancer syndromes in the majority of families will rely on the alertness of clinicians and on the families’ awareness of the importance of their personal and family cancer history (2). Key elements in the diagnostic process are formulating a genetic differential diagnosis based on the cancer history and other traits. Some of the diagnostic clues may be easily observed by the clinician, whereas others need to be actively searched for. This chapter reviews the tell-tale signs of hereditary cancer and also presents an online tool, the Familial Cancer Database (www.facd.info), which may assist the clinician in the diagnostic process.