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癌症的遗传易感性与家族性癌症综合征。

Genetic predisposition to cancer and familial cancer syndromes.

作者信息

Quesnel S, Malkin D

机构信息

Department of Medical Biophysics, Hospital for Sick Children, University of Toronto, Ontario, Canada.

出版信息

Pediatr Clin North Am. 1997 Aug;44(4):791-808. doi: 10.1016/s0031-3955(05)70530-7.

Abstract

Approximately 10% to 15% of childhood cancers are hereditary or familial in nature. For several genetic disorders, the development of cancer is a secondary manifestation of the clinical phenotype, whereas cancer predisposition syndromes are generally recognized by the manifestation of characteristic malignancies. The study of pediatric cancer and rare hereditary cancer syndromes and associations has led to the identification of numerous cancer genes that are known to play critical roles in both normal and abnormal cellular growth, differentiation, and proliferation. The potential to identify such genetic markers of cancer predisposition poses difficult social, legal, and ethical questions in their application to clinical practice.

摘要

大约10%至15%的儿童癌症具有遗传性或家族性。对于几种遗传疾病来说,癌症的发生是临床表型的一种继发表现,而癌症易感综合征通常通过特征性恶性肿瘤的表现得以识别。对儿童癌症以及罕见遗传性癌症综合征及其关联的研究,已促成了众多癌症基因的发现,这些基因在正常和异常细胞生长、分化及增殖过程中均发挥着关键作用。识别此类癌症易感性遗传标志物的可能性,在其应用于临床实践时引发了棘手的社会、法律和伦理问题。

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