D.W. Yandell, T.A. Campbell, S.H. Dayton, R. Petersen, et al., "Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling," New England Journal of Medicine, 321:1689-95, 1989.
David W. Yandell (Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston): "Interest in our paper has come from diverse areas because it touches on cancer predisposition, tumor suppressor genes, and DNA-based diagnosis of hereditary disease.
"Retinoblastoma is a rare but complex disease that has both hereditary and nonhereditary forms. Although it is one of the more treatable cancers, it can be blinding and disfiguring, and the specter of recurrent cancer and unaffected `carriers' for predisposition of the disease can have a devastating effect on families.
"Premorbid DNA-based identification of carriers provides critical information for genetic counseling and for early treatment of carriers who develop retinoblastoma. However, this gene is a bona fide nightmare for the molecular geneticist attempting...