Review
Genetics of retinoblastoma
- PMID: 141608
Item in Clipboard
Review
Genetics of retinoblastoma
Mod Probl Ophthalmol.
1977.
Abstract
Retinoblastoma may be due to (1) a somatic mutation, which is not hereditary, (2) a germinal mutation, which is dominantly inherited, and (3) a deletion of the long arm of chromosome 13. In unilateral cases of retinoblastoma, the risk for the offspring is 5-6%, as 10-15% of these cases are due to a germinal mutation. In all the bilateral cases and in the unilateral hereditary cases, the risk for the offspring or the sibs is 40-50% depending on the penetrance of the gene.
Similar articles
-
Costenbader Memorial Lecture: Genesis and genetics of retinoblastoma.Adv Ophthalmol. 1979;39:181-209. Adv Ophthalmol. 1979. PMID: 394592 Review.
-
Mutational mosaicism and genetic counseling in retinoblastoma.Am J Med Genet. 1979;4(4):365-81. doi: 10.1002/ajmg.1320040408. Am J Med Genet. 1979. PMID: 120116
-
Multistage and multifactorial carcinogenesis in hereditary tumours, with special reference to retinoblastoma.IARC Sci Publ. 1984;(56):373-83. IARC Sci Publ. 1984. PMID: 6536602 No abstract available.
-
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma.Am J Med Genet. 1991 May 1;39(2):196-200. doi: 10.1002/ajmg.1320390215. Am J Med Genet. 1991. PMID: 2063924
-
The molecular genetics of retinoblastoma.Cancer Surv. 1990;9(3):529-54. Cancer Surv. 1990. PMID: 2101724 Review.
Cited by
-
Radiographic findings in 13q-syndrome.Pediatr Radiol. 1993;23(7):545-8. doi: 10.1007/BF02012146. Pediatr Radiol. 1993. PMID: 8309761