Costenbader Memorial Lecture: Genesis and genetics of retinoblastoma. 1979

J François

(1) The incidence of retinoblastoma is 1/20,000. (2) About 94% of all retinoblastoma cases are sporadic, while 6% are familial. (3) The hereditary retinoblastomas, whether sporadic or familial, represent 40% of all cases. (4) A new dominant germinal mutation is responsible for 100% of the bilateral sporadic cases and for 10-15% of the unilateral sporadic cases. (5) Knudson's multistage mutation is the best explanation of retinoblastoma's behaviour. (6) A deletion of the long arm of a D-chromosome (13q14) may be the cause of some, if not of all retinoblastomas. (7) The main difficulty in genetic counseling is the lack of means for identifying which sporadic unilateral retinoblastomas are due to a new germinal mutation.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009378 Neoplasms, Multiple Primary Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites. Neoplasms, Synchronous,Neoplasms, Synchronous Multiple Primary,Multiple Primary Neoplasms,Multiple Primary Neoplasms, Synchronous,Synchronous Multiple Primary Neoplasms,Synchronous Neoplasms,Multiple Primary Neoplasm,Neoplasm, Multiple Primary,Neoplasm, Synchronous,Primary Neoplasm, Multiple,Primary Neoplasms, Multiple,Synchronous Neoplasm
D009918 Orbital Neoplasms Neoplasms of the bony orbit and contents except the eyeball. Neoplasm, Orbital,Neoplasms, Orbital,Orbital Neoplasm
D010290 Parents Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent. Step-Parents,Parental Age,Parenthood Status,Stepparent,Age, Parental,Ages, Parental,Parent,Parental Ages,Status, Parenthood,Step Parents,Step-Parent,Stepparents
D011878 Radiotherapy The use of IONIZING RADIATION to treat malignant NEOPLASMS and some benign conditions. Radiotherapy, Targeted,Targeted Radiotherapy,Radiation Therapy,Radiation Therapy, Targeted,Radiation Treatment,Targeted Radiation Therapy,Radiation Therapies,Radiation Therapies, Targeted,Radiation Treatments,Radiotherapies,Radiotherapies, Targeted,Targeted Radiation Therapies,Targeted Radiotherapies,Therapies, Radiation,Therapies, Targeted Radiation,Therapy, Radiation,Therapy, Targeted Radiation,Treatment, Radiation
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children

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