家族性视网膜母细胞瘤和共济失调毛细血管扩张症：用于研究DNA损伤与修复的人类模型。

Familial retinoblastoma and ataxia telangiectasia: human models for the study of DNA damage and repair.

作者信息

Weichselbaum R R, Little J B

出版信息

Cancer. 1980 Feb 15;45(4):775-9. doi: 10.1002/1097-0142(19800215)45:4<775::aid-cncr2820450427>3.0.co;2-6.

DOI:10.1002/1097-0142(19800215)45:4<775::aid-cncr2820450427>3.0.co;2-6

Abstract

A variety of genetic diseases are associated with a high incidence of malignant tumors as compared to the general population. Laboratory data are presented that suggest that the increased cancer incidence in ataxia telangiectasia and familial retinoblastoma patients may be related to deficiencies in the normal DNA repair processes in their cells. Finally, we offer a hypothesis regarding the types of possible repair defects involved in these diseases and the biological consequences of such defects.

摘要

与普通人群相比，多种遗传疾病与恶性肿瘤的高发病率相关。本文提供的实验室数据表明，共济失调毛细血管扩张症和家族性视网膜母细胞瘤患者癌症发病率的增加可能与其细胞中正常DNA修复过程的缺陷有关。最后，我们提出了一个关于这些疾病中可能涉及的修复缺陷类型以及此类缺陷的生物学后果的假说。