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多灶性骨肉瘤中的生殖系和体细胞p53基因突变

Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma.

作者信息

Iavarone A, Matthay K K, Steinkirchner T M, Israel M A

机构信息

Department of Neurological Surgery, Preuss Laboratory, University of California, San Francisco 94143.

出版信息

Proc Natl Acad Sci U S A. 1992 May 1;89(9):4207-9. doi: 10.1073/pnas.89.9.4207.

Abstract

Multifocal osteogenic sarcoma patients without familial histories of increased tumor predisposition were examined for mutations in the highly conserved regions of the p53 gene. p53 point mutations were found in tumor DNA from each of the four patients we examined. A germ-line p53 mutation was detected in one of these patients, and a further rearrangement of the residual wild-type allele was detected in tumor tissue. p53 germ-line mutations can contribute to the enhanced predisposition to tumor development manifest in patients with multifocal osteosarcoma.

摘要

对无肿瘤易感性增加家族史的多灶性骨肉瘤患者进行了p53基因高度保守区域突变检测。在我们检测的4例患者的肿瘤DNA中均发现了p53点突变。其中1例患者检测到种系p53突变,在肿瘤组织中还检测到残留野生型等位基因的进一步重排。p53种系突变可能导致多灶性骨肉瘤患者肿瘤发生易感性增强。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed60/525662/b624d466249a/pnas01083-0548-a.jpg

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