Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
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DOI：
10.1158/0008-5472.can-16-2179
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发表时间：
2017-03-15
期刊：
影响因子：
11.2
通讯作者：
Soussi T
中科院分区：
文献类型：
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作者：
Leroy B;Ballinger ML;Baran-Marszak F;Bond GL;Braithwaite A;Concin N;Donehower LA;El-Deiry WS;Fenaux P;Gaidano G;Langerød A;Hellstrom-Lindberg E;Iggo R;Lehmann-Che J;Mai PL;Malkin D;Moll UM;Myers JN;Nichols KE;Pospisilova S;Ashton-Prolla P;Rossi D;Savage SA;Strong LC;Tonin PN;Zeillinger R;Zenz T;Fraumeni JF Jr;Taschner PE;Hainaut P;Soussi T
准确评估TP 53基因状态在散发性肿瘤和个体的生殖系中的高风险癌症由于Li-Fraumeni综合征（LFS）的诊断，监测和治疗具有重要的临床意义。来自20，000多个癌症基因组的基因组数据提供了关于癌症基因改变的丰富信息，并证实TP 53是人类癌症中最常见的突变基因。对70，000个TP 53变体的数据库的分析表明，该基因的两个新发现的外显子，外显子9β和9γ，通过选择性剪接产生，是乳腺，肝脏和头颈部肿瘤中失活突变事件的靶点。此外，TP 53内含子1的种系重排与LFS相关，并且经常在散发性骨肉瘤中观察到。在不断增长的基因组数据的背景下，我们讨论了在评估临床样本中TP 53状态时必须如何改进筛选策略。最后，我们讨论了如何使用准确的命名法来描述TP 53的改变，以避免在科学和临床报告中产生混淆。
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed TP53 as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 TP53 variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver and head and neck tumors. Furthermore, germline rearrangements in intron 1 of TP53 are associated with LFS and are frequently observed in sporadic osteosarcoma. In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing TP53 status in clinical samples. Finally, we discuss how TP53 alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports.
DOI：
10.1111/j.1742-4658.2009.07124.x
发表时间：
2009-08
期刊：
The FEBS journal
影响因子：
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作者：
Carlsson J;Soussi T;Persson B
通讯作者：
Persson B