Types,rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients |
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Authors: | Y Ejima M S Sasaki A Kaneko H Tanooka |
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Institution: | (1) Radiation Biology Center, Kyoto University, Yoshida-Konoecho, Sakyo-ku, 606 Kyoto, Japan;(2) National Cancer Center Hospital, Chuo-ku, 104 Tokyo, Japan;(3) National Cancer Center Research Institute, Chuo-ku, 104 Tokyo, Japan |
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Abstract: | Summary A cytogenetic survey of 200 retinoblastoma (Rb) patients revealed that approximately 8.5% of the fresh germinal mutations were microscopically detectable chromosome mutations, either interstitial deletions or rearrangements, involving 13q14. They showed a strong bias toward paternal origin, indicating a significant contribution of errors in paternal meiotic processes. The incidence of patients with Rb due to such chromosome mutations was estimated to be 1.9 x 10-6 of live births. Age-specific incidence of Rb tumors suggested that the Rb mutations by such chromosomal mechanisms had a lower carcinogenic potential, as indicated by the later onset of disease, than other Rb mutations of germinal origin. |
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