Oncogenic Point Mutations in the Human Retinoblastoma Gene: Their Application to Genetic Counseling

Authors:
  • TCTracey A. Campbell
    Tracey A. Campbell
  • SDSiri H. Dayton
    Siri H. Dayton
  • RPRobert Petersen
    Robert Petersen
  • DWDavid Walton
    David Walton
  • JLJohn B. Little
    John B. Little
  • AMAllyn McConkie-Rosell
    Allyn McConkie-Rosell
  • EBEdward G. Buckley
    Edward G. Buckley
  • TDThaddeus P. Dryja
    Thaddeus P. Dryja
Publisher website
Google Scholar
Abstract
Mutations of the retinoblastoma gene, most of which cannot be detected by conventional Southern blotting, are known to cause both the nonhereditary and hereditary forms of retinoblastoma and have been implicated in the development of other cancers. Nonhereditary retinoblastoma is caused by a somatic mutation. Hereditary retinoblastoma is caused by a germ-cell mutation, most often a new one, and thus there is usually no family history of the disease. Unlike patients with the nonhereditary disease, those with the hereditary form are at risk for additional retinoblastomas, and their progeny are at risk for the tumors.

This publication has 42 references indexed in Scilit: