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3 Journal of Applied Genetics

3 1999

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Constitutional chromosome instability in families with patients affected by sporadic non-hereditary retinoblastoma

100%

Zajaczek S. , Gorski B. , Krzystolik Z. , Lubinski J.

Journal of Applied Genetics

1999

tom 40

nr 4

343-353

It has been suggested that chromosome instability is a constitutional factor which may be characteristic of families with an increased risk for the development of malignancies. In this study spontaneous chromosome aberrations, sister chromatid exchanges (SCEs) and chromosome sensitivity to bleomycin were analysed in cultured lymphocytes from 13 families with sporadic non-hereditary unilateral retinoblastoma patients. The significantly increased chromosome instability was detected only by the bleomycin test. Higher mean values of breaks/cell were found in all groups of relatives: patients, parents and siblings.

The first Rb-1 gene promoter germ-line de novo mutation in patient with retinoblastoma

80%

Zajaczek S. , Jakubowska A. , Kurzawski G. , Krzystolik Z. , Lubinski J.

Journal of Applied Genetics

1999

tom 40

nr 3

241-247

Rb-1 gene promoter mutations are very rare events, only three retinoblastoma families with such alterations were reported up to now. Herein, we describe the first case of the Rb-1 gene promoter germ, line de novo mutation in a proband with sporadic unilateral retinoblastoma. All of reported Rb-1 gene promoter mutations are associated with a reduced penetrance. Together with the literature data it can be roughly estimated that penetration of cases with alteration localised in promoter and similar as in presented case, is at the level of about 60-70%. It seems, that there are some promoter sites more prone for occurrence of mutations.

Molecular analysis of a large novel constitutional deletion in a patient with sporadic unilateral retinoblastoma

80%

Zajaczek S. , Cragg H. , Jakubowska A. , Gorsi B. , Krzystolik Z. , Cowell J. K. , Lubinski J.

Journal of Applied Genetics

1999

tom 40

nr 3

233-239

New Rb-1 gene mutation has been studied at sequence level in DNA of peripheral blood lymphocytes DNA. It is a large 137 bp germ-line de novo in-frame deletion involving nearly all of exons 15-16 in a patient with unilateral sporadic retinoblastoma. Analysis of molecular findings suggests that described mutation occurred by non-homologous recombination and slipped mispairing. Possibly this in-frame deletion limited to loss of exons 15-16 is associated with higher prevalence of unilateral tumours.