Étude génétique du rétinoblastome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1974-12

AUTHORS

M. L. Briard-Guillemot, C. Bonaïti-Pellié, J. Feingold, J. Frézal

ABSTRACT

A genetic study of 598 patients with retinoblastoma was made-10.5% were familial, 36% had the bilateral form. The data confirmed that these two forms differ in their mode of inheritance; the bilateral are due to a germinal dominant mutation, whereas the unilateral are due in most cases to a somatic mutation and are therefore non-hereditary. The recurrence risk among the offspring of sporadic unilateral cases amounts to 1.2–11.8%.The incidence of the disease among the sibs of sporadic cases is higher if the index case has a bilateral form (6.2% vs. 0.6%). Contrarily, the incidence is higher among the offspring of normal sibs when the index case has a unilateral form.The incidence of the retinoblastoma has been estimated at 5x10-5 in a French population with a mutation rate of 5x10-6.Knudson has developed the hypothesis that retinoblastoma is caused by two mutational events. In the dominantly inherited form one mutation is germinal, the second occurs in the retinal cells. In the non-heritary form both occur in somatic cells. Knudson's hypothesis accounts reasonably well for the familial distribution of retinoblastoma but does not correlate with the proportion of healthy carriers and changes of penetrance.The hypothesis is put forward that premutational events responsible for these changes of penetrance include chromosomal breakages susceptible to repair or to further evolution to deletion. More... »

PAGES

271-284

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00297591

DOI

http://dx.doi.org/10.1007/bf00297591

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1034184811

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/4442873


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