The role of extreme phenotype selection studies in the identification of clinically relevant genotypes in cancer research†
Article first published online: 17 SEP 2002
Copyright © 2002 American Cancer Society
Volume 95, Issue 7, pages 1605–1610, 1 October 2002
How to Cite
Luis Perez-Gracia, J., Gloria Ruiz-Ilundain, M., Garcia-Ribas, I. and Maria Carrasco, E. (2002), The role of extreme phenotype selection studies in the identification of clinically relevant genotypes in cancer research. Cancer, 95: 1605–1610. doi: 10.1002/cncr.10877
The opinions expressed in this article do not necessarily reflect the opinions of the institutions with which the authors are affiliated.
- Issue published online: 17 SEP 2002
- Article first published online: 17 SEP 2002
- Manuscript Accepted: 25 APR 2002
- Manuscript Received: 21 FEB 2002
- protective genetic alterations;
- long-term survivors;
- neoplastic disease
The investigation of genetic alterations that may be related to the prognosis of patients with malignant disease has become a frequently used strategy in recent years. Although some conclusions have been reached in certain studies, the complexity and the multifactorial nature of most neoplastic diseases makes it difficult to identify clinically relevant information, and the results of some studies have been of borderline significance or have been conflicting. In contrast, the identification and the study of patients or families with very characteristic phenotypes have yielded outstanding results in the identification of the genetic characteristics underlying such phenotypes. Although, in most cases, the individuals who are selected for these types of studies are characterized by a negative phenotype (i.e., individuals who are at increased risk for developing a specific disease), a few studies have been directed toward individuals with phenotypes that imply an unusually good prognosis (i.e., individuals who present with a decreased risk for developing specific diseases despite an important exposure to well-known risk factors). Therefore, it seems logical to develop this strategy further as a valid methodology for the study of other diseases, such as cancer. The study of individuals with phenotypes that imply an extremely good prognosis, such as long-term survivors of theoretically incurable malignancies or individuals who seem to be protected against a certain neoplastic disorder despite having a markedly increased risk for its development, may unveil genetic alterations that explain such characteristic phenotypes and may provide potentially useful therapeutic targets against these diseases. Cancer 2002;95:1605–10. © 2002 American Cancer Society.