The field of endocrine and cancer genetics has grown remarkably in the past few years. The discovery of genes responsible for inherited forms of cancer has already given us powerful tools for cancer risk assessment, pre-morbid prediction and genetic counseling. The discovery of the susceptibility gene for multiple endocrine neoplasia type 2 (MEN 2) was fundamental in developing the field of clinical cancer genetics. It is hoped that further genetic and functional studies of hereditary cancers, including inherited endocrine neoplasia syndromes, will also lead the way to improved clinical management ability in prevention and treatment areas alike. One of the greatest challenges that lie ahead is to understand the intricate mechanism of gene-protein interactions that control development and regulation of multiple biological systems. One of the most anticipated consequences of this progress is that it will bring further insight and tools that will also enable full translation into therapeutic options that can be tailored to patients according to their most specific "molecular requirements". This brief review covers general aspects of the gene discovery process and further association with specific disease phenotypes. Traditional cloning techniques will be listed side by side with modern strategies for gene discovery and analysis. The role of bioinformatics in the progress of the Human Genome Project and the enormous potential that derives from this information towards the identification of novel genes will be addressed.
Clinical cancer genetics; Inherited neoplasias; Multiple endocrine neoplasia type 2; Bioinformatics; Human Genome Project
