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同胞中儿童癌症的发生情况及家族风险评估。

Occurrence of childhood cancers among sibs and estimation of familial risks.

作者信息

Draper G J, Heaf M M, Kinnier Wilson L M

出版信息

J Med Genet. 1977 Apr;14(2):81-90. doi: 10.1136/jmg.14.2.81.

Abstract

An analysis which includes the majority of the cases of childhood cancer occurring in Britain over a period of about 20 years suggests that there is a small familial element in the aetiology of these diseases; aggregations within sibships were observed more frequently than would be expected by chance. Possible explanations of these findings are considered. Some, perhaps many, of the cases within such sibships may be due to associations between malignant disease and various genetically determined conditions at a suclinical level or in the heterozygous state. Alternatively, the observed familial aggregations may be attributable to the fact that sibs share a common environment. Childhood cancer in twins is discussed and findings compared with those from the United States. Attention is drawn to a number of interesting combinations of tumours in sibs, particularly brain tumours and bone cancers. The implications of the findings for genetic counselling are discussed; it is emphasized that, though there appears to be an increased risk that sibs of children with malignant disease will also be affected by such diseases, this amounts overall only to a doubling of the general population risk. Whether or not the explanation is a genetic one, the actual magnitude of the risk for such sibs is only about 1 in 300.

摘要

一项对英国约20年间发生的大多数儿童癌症病例的分析表明,这些疾病的病因中存在微小的家族因素;在同胞关系中观察到的聚集现象比偶然预期的更为频繁。文中考虑了这些发现的可能解释。在这种同胞关系中的一些病例,也许是许多病例,可能是由于恶性疾病与亚临床水平或杂合状态下的各种基因决定的状况之间的关联。或者,观察到的家族聚集现象可能归因于同胞共享共同环境这一事实。文中讨论了双胞胎中的儿童癌症,并将研究结果与美国的进行了比较。文中还提到了同胞中一些有趣的肿瘤组合,特别是脑肿瘤和骨癌。文中讨论了这些发现对遗传咨询的影响;强调指出,虽然患恶性疾病儿童的同胞患此类疾病的风险似乎有所增加,但总体而言,这仅使一般人群风险翻倍。无论解释是否基于遗传因素,此类同胞的实际风险程度仅约为300分之一。

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