ATM杂合型乳腺癌患者放射晚期效应和细胞放射敏感性增强。

S Varghese, R K Schmidt-Ullrich, A Dritschilo, M Jung
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引用次数: 22

摘要

我们观察到一位接受乳腺癌放射治疗的患者出现了严重的晚期效应。患者成纤维细胞的放射生存研究显示细胞辐射敏感性增强(Do = 0.95 Gy)。遗传分析显示,患者是突变的ATM基因杂合。蛋白截断测试(PTT)和序列分析在亮氨酸拉链结构域中发现了一个截断,对应于先前报道的具有显性负功能的片段。这些发现表明,ATM杂合性可能与增强的临床辐射敏感性有关,并提示这种截断导致显性负作用蛋白的临床相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Enhanced radiation late effects and cellular radiation sensitivity in an ATM heterozygous breast cancer patient.

We observed severe late effects in a patient treated with radiation therapy for breast cancer. Radiation survival studies of patient fibroblasts show an enhanced cellular radiation sensitivity (Do = 0.95 Gy). Genetic analysis reveals that the patient is heterozygous for a mutated ATM gene. Protein truncation test (PTT) and sequence analysis identified a truncation within the leucine zipper domain, corresponding to a fragment previously reported to exhibit dominant negative function. These findings demonstrate that ATM heterozygosity may be associated with enhanced clinical radiation sensitivity and suggest a clinical relevance to this truncation that results in a dominant negative-acting protein.

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