Parental age in retinoblastoma

Pellié, Catherine; Briard, Marie-Louise; Feingold, Josué; Frézal, J

doi:10.1007/bf00280877

Cited by 23 publications

(10 citation statements)

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“…Most of the eleven available studies are based on a small number of cases. We have found only three studies with more than 100 sporadic bilateral cases, viz., those of Pellié et al (1973;n = 155), DerKinderen et al (1990;n = 104), and Matsunaga et al (1990;n = 225). Until recently, it has been difficult to obtain appropriate control data of paternal age.…”

Section: Discussionmentioning

confidence: 86%

“…Until recently, it has been difficult to obtain appropriate control data of paternal age. Pellié et al (1973) compare paternal ages using French population statistics for 1956. The year of birth of those children extends over more than 10 years (1951)(1952)(1953)(1954)(1955)(1956)(1957)(1958)(1959)(1960), during which time the paternal age distribution in the general population is likely to have changed gradually.…”

Section: Discussionmentioning

confidence: 99%

“…DerKinderen et al (1990) have used these data to establish a parental age effect in their patient cohort . These three large studies have led to different results: Pellié et al (1973) find a paternal age effect, DerKinderen et al (1990) have established a parental age effect, and Matsunaga et al (1990) mention only an age effect for fathers older than 35 years. In summary, all three studies suggest a paternal age effect, whereas a maternal age effect is only revealed by DerKinderen et al (1990).…”

Section: Discussionmentioning

confidence: 99%

“…The mean parental age at birth of sporadic hereditary retinoblastoma patients was tested against the mean parental age at birth in the general population using Student's one-sample t-test (the general mean is considered to be fixed). Since both the general literature concerning germline muatations (Penrose 1955) and the more specific retinoblastoma literature (Pellié et al 1973;Vogel 1979) indicate that the relationship between parental age and the risk of mutation should be an increasing one, we felt justified in applying the statistical tests one-sidedly, with a level of significance of 0.05. This implies confidence intervals (CI), based on a Gaussian distribution, of 90%.…”

Section: Methodsmentioning

confidence: 99%

“…This is understandable, since the number of new mutations in germline cells increases with age (Penrose 1955;Vogel and Rathenberg 1975;Vogel 1979). The existence of an association of sporadic hereditary retinoblastoma with parental age is still controversial (Falls and Neel 1951;Stevenson and Martin 1957;Smith and Sorsby 1958;Macklin 1960;Matsunaga 1965;Fraser and Friedmann 1967;Tünte 1972;Pellié et al 1973;Bunin et al 1989;Matsunaga et al 1990; DerKinderen et al 1990). Furthermore, DNA investigations on some patients suggest that new germline mutations are principally of paternal orgin (Ejima et al 1988;Dryja et al 1989;Zhu et al 1989).…”

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confidence: 99%

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High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862-1994

et al. 1996

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We wished to determine the influence of parental age at the birth of a retinoblastoma patient on the risk of sporadic hereditary retinoblastoma. The parental age at birth of 941 patients of the Dutch retinoblastoma register was identified and compared between sporadic hereditary and nonhereditary patients. In a subcohort , a comparison was made with parental age at birth in the general population, as obtained from the Central Bureau of Statistics. Missing birth dates of the parents of retinoblastoma patients were traced with the help of the municipal registries and the Central Bureau of Genealogy. The mean paternal age was 10.7 months higher and the mean maternal age was 11.0 months higher in the sporadic hereditary retinoblastoma patients than in parents of nonhereditary patients. In the subcohort, the mean paternal and maternal ages of sporadic hereditary patients were also higher (12.4 and 11.5 months, respectively) than those of the general population. All differences were statistically significant. This study shows that a high parental age is associated with an enhanced risk of sporadic hereditary retinoblastoma. IntroductionRetinoblastoma is a malignant pediatric tumor affecting the retina and occurring about once in 20 000 live births. Retinoblastoma occurs in a hereditary form (30%-40% of the patients) and a nonhereditary form (60%-70%; Vogel 1979). It develops following at least two (Knudson 1971; DerKinderen 1987) mutational events, namely, inactivation of both alleles of the retinoblastoma (RB1) gene at 13q14 (Cavenee et al. 1983;Dryja et al. 1986).The hereditary form results from a germline mutation which is present in all body cells. Among hereditary cases, a familial hereditary form and a sporadic hereditary form may be distinguished. An indication for the familial hereditary form is a parent with retinoblastoma or a family member with this disease, indicating that one of the parents must be a carrier of the RB1 gene. In the sporadic hereditary form, no other family members are affected, and the patient is the first person in the family with retinoblastoma. In the nonhereditary form, the retinoblastoma mutation is exclusively found in the tumor cells of the retina (Knudson 1971;Vogel 1979).Epidemiological observations suggest that parental age is related to the genesis of sporadic hereditary disorders such as Down's syndrome and achondroplasia. This is understandable, since the number of new mutations in germline cells increases with age (Penrose 1955;Vogel and Rathenberg 1975;Vogel 1979). The existence of an association of sporadic hereditary retinoblastoma with parental age is still controversial (Falls and Neel 1951;Stevenson and Martin 1957;Smith and Sorsby 1958;Macklin 1960;Matsunaga 1965;Fraser and Friedmann 1967;Tünte 1972;Pellié et al. 1973;Bunin et al. 1989;Matsunaga et al. 1990; DerKinderen et al. 1990). Furthermore, DNA investigations on some patients suggest that new germline mutations are principally of paternal orgin (Ejima et al. 1988;Dryja et al. 1989;Zhu et al. 1989). Th...

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Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

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High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862-1994

et al. 1996

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Retinoblastoma

Judisch¹,

Apple²,

Fratkin³

1980

Arch Ophthalmol

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Mutational mosaicism and genetic counseling in retinoblastoma

Carlson

Desnick

1979

Am. J. Med. Genet.

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Mutations may arise throughout an organism's life cycle. Typically, sporadic meiotic mutations give rise to individuals with all their germinal and somatic cells bearing the mutant gene. These mutations may be amorphs (with full penetrance and expressivity) or hypomorphs (with reduced penetrance and expressivity). Mutational mosaicism, however, involves the origin of mutations occurring during mitosis, whether in the parent at some stage prior to reproductive maturity or in the offspring at some time following fertilization. The phenotypic expression and transmission of these new mutations are dependent on the proportion of cells bearing the mutant gene as well as the location of these cells in somatic and/or germinal tissues. Mutational mosaicism was used as a developmental model to analyze 1,500 sporadic and 179 familial cases of retinoblastoma from the world literature. This model provided an interpretation for the origin, onset, and transmissibility of the sporadic unilateral retinoblastoma cases, which represent over 60% of all retinoblastoma patients. The model also permits a reclassification of all transmissible types of retinoblastoma; based on this classification, more accurate risk figures for genetic counseling can be offered. In addition, mutational mosaicism can be extended as a model to other autosomal dominant and X-linked mutations.

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Parental age in retinoblastoma

Cited by 23 publications

References 9 publications

High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862-1994

High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862-1994

Retinoblastoma

Mutational mosaicism and genetic counseling in retinoblastoma

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