视网膜母细胞瘤患者祖父母中癌症死亡人数过多。
Excess of cancer deaths in grandparents of patients with retinoblastoma.
作者信息
Bonaïti-Pellié C, Briard-Guillemot M L
出版信息
J Med Genet. 1980 Apr;17(2):95-101. doi: 10.1136/jmg.17.2.95.
Abstract
An excess of cancer deaths was found in grandparents of 308 children with retinoblastoma. This excess was found in all types of retinoblastoma, unilateral and bilateral, sporadic and familial. We postulated that the excess could be the result of a factor of susceptibility to cancer, different from the retinoblastoma gene, which would increase the mutation rate in retinal and germ cells as well as in other tissues.
摘要
在308名视网膜母细胞瘤患儿的祖父母中发现了癌症死亡人数过多的情况。在所有类型的视网膜母细胞瘤中都发现了这种过多情况，包括单侧和双侧、散发性和家族性的。我们推测，这种过多可能是由于一种不同于视网膜母细胞瘤基因的癌症易感性因素导致的，该因素会增加视网膜细胞、生殖细胞以及其他组织中的突变率。
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本文引用的文献
1
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Ann Hum Genet. 1956 May;20(4):266-9. doi: 10.1111/j.1469-1809.1955.tb01281.x.
2
Radiation induced neoplasia following external beam therapy for children with retinoblastoma.视网膜母细胞瘤患儿接受外照射治疗后发生的辐射诱导肿瘤形成。
Am J Roentgenol Radium Ther Nucl Med. 1969 Mar;105(3):529-35. doi: 10.2214/ajr.105.3.529.
3
The practical management of retinoblastoma.视网膜母细胞瘤的实际管理
Trans Am Ophthalmol Soc. 1969;67:462-534.
4
Retinoblastoma: epidemiologic characteristics.视网膜母细胞瘤：流行病学特征
N Engl J Med. 1971 Aug 5;285(6):307-11. doi: 10.1056/NEJM197108052850602.
5
Mutation and cancer: statistical study of retinoblastoma.突变与癌症：视网膜母细胞瘤的统计学研究
Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3. doi: 10.1073/pnas.68.4.820.
6
A maximum-likelihood method for estimating the disease predisposition of heterozygotes.一种用于估计杂合子疾病易感性的最大似然法。
Am J Hum Genet. 1974 May;26(3):304-17.
7
Retinoblastoma and osteogenic sarcoma in siblings.兄弟姐妹中的视网膜母细胞瘤和成骨肉瘤。
Cancer. 1974 Dec;34(6):2077-9. doi: 10.1002/1097-0142(197412)34:6<2077::aid-cncr2820340630>3.0.co;2-a.
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9
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