A Step Toward Genotype-Based Therapeutic Regimens for Breast Cancer in Patients With BRCA2 Mutations?

Extract

The positional cloning of a familial tumor suppressor gene is a monumental task often involving the coordinated efforts of international consortia of many laboratories. The euphoria that accompanies the successful cloning of a cancer-causing gene signals the initiation of many new avenues of study that attempt to define the activity of that gene's product. These goals are laudatory, because by defining such a function and understanding how it is subverted by mutations, the hope is that eventually this information can be used to develop therapeutic approaches aimed at patients and their family members who participated selflessly in the genetic studies that ultimately led to the identification of the gene.

The biologic functions of gene products are hugely diverse, and our knowledge base of gene function is currently so poor that the experimental pathways that lead to the elucidation of a gene's function are not necessarily easy to discern. Usually, many years elapse between the cloning of a familial tumor suppressor gene and the identification of its function. Moreover, although valuable information will be garnered about a gene's function, translating this knowledge into effective therapeutic regimens, based on the knowledge of an individual's genetic lesion, is extremely difficult.