Follow-up of retinoblastoma patients having prenatal and perinatal predictions for mutant gene carrier status using intragenic polymorphic probes from the RB1 gene

Onadim, Zerrin; Hungerford, J L; Jk, Cowell

doi:10.1038/bjc.1992.150

Cited by 25 publications

(10 citation statements)

References 22 publications

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“…DNA from 111.5 was obtained for prenatal screening from chorionic villus (CV) tissue and from cord blood samples (B) taken from the same individual at birth. Exon 20 from II1.5 was also sequenced and found to be free of the 661 mutation, confirming our original prediction made with linkage analysis (15). Msp I digestions of exon 20 DNAs from 34 unrelated RB patients and 38 unrelated healthy individuals did not show this mutation.…”

Section: Resultssupporting

confidence: 59%

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

Onadim¹,

Hogg²,

Baird³

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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119

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The retinoblastoma-predisposition gene, RBI, segregates as an autosomal dominant trait with high (90%) penetrance. Certain families, however, show an unusual low-penetrance phenotype with many individuals being unaffected, unilaterally affected, or with evidence of spontaneously regressed tumors. We have used single-strand conformation polymorphism analysis and PCR sequencing to study two such families. Mutations were found in exon 20 ofRB) in both cases.

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Section: Resultssupporting

confidence: 59%

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

Onadim¹,

Hogg²,

Baird³

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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119

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“…LOH using polymerase chain reaction (PCR) Primers to RB1 introns 17 (Greenwald et al, 1992) and 20 (Onadim et al, 1992) fragments loaded. Fragments were separated by electrophoresis in 6% non-denaturing polyacrylamide gels incorporating 10% glycerol (similar to those used for single-strand conformation polymorphism analysis).…”

mentioning

confidence: 99%

Loss of the retinoblastoma susceptibility gene (RB1) is a frequent and early event in prostatic tumorigenesis

Phillips

Barton²,

Lee³

et al. 1994

Br J Cancer

134

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(Zaridze & Boyle, 1987). Death from localised prostate cancer is uncommon partly because it tends to affect elderly men and partly because of its slow growth (Blute et al., 1986;George, 1988). There is a need to identify those tumours that are likely to progress sufficiently to become symptomatic.The retinoblastoma susceptibility gene (RB1) was first localised to chromosome 13ql4.1 by cytogenetic studies (Yunis & Ramsay, 1978). The gene was cloned by Friend et al. (1986) and was the first tumour-suppressor gene to be identified (Benedict et al., 1990). Osteosarcomas occur with an increased incidence in surviving adults with hereditary retinoblastoma and show the same mechanism of RB1 loss as in retinoblastoma (Friend et al., 1986 (Yandell et al., 1989; Cairns et al., 1991) and in other various tumours. The protein product of the RB1 gene (pRB) has a pivotal role in the control of the cell cycle, blocking entry into the S-phase when dephosphorylated (Hinds el al., 1992

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“…The PCR reaction ) and the RBi.2 (Toguchida et al, 1993) polymorphisms of the RB1 gene were used. The PCR primers and the procedures for the RB1.20 analysis were as described previously (Onadim et al, 1992b). The procedure for the detection of the RBi.2 polymorphism was essentially the same as the RB 1.20, except that the primers published in Toguchida et al (1993) were used.…”

Section: Case Reportmentioning

confidence: 99%

The RB1 gene mutation in a child with ectopic intracranial retinoblastoma

Onadim

Woolford²,

Kingston³

et al. 1997

Br J Cancer

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Summary The RB1 gene mutation was investigated in a child with ectopic intracranial retinoblastoma using DNA obtained from both the pineal and retinal tumours of the patient. A nonsense mutation in exon 17 (codon 556) of the RB1 gene was found to be present homozygously in both the retinal and the pineal tumours. The same mutation was present heterozygously in the DNA from the constitutional cells of the patient, proving it to be of germline origin. The initial mutation was shown to have occurred in the paternally derived RB1 allele. The mutation is in an area of the gene that encodes the protein-binding region known as the 'pocket' region and has been detected in other cases of retinoblastoma.

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Follow-up of retinoblastoma patients having prenatal and perinatal predictions for mutant gene carrier status using intragenic polymorphic probes from the RB1 gene

Cited by 25 publications

References 22 publications

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

Loss of the retinoblastoma susceptibility gene (RB1) is a frequent and early event in prostatic tumorigenesis

The RB1 gene mutation in a child with ectopic intracranial retinoblastoma

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