Lengauer C, Kinzler K W, Vogelstein B
Johns Hopkins Oncology Center, Baltimore, Maryland 21231, USA.
Nature. 1998 Dec 17;396(6712):643-9. doi: 10.1038/25292.
Whether and how human tumours are genetically unstable has been debated for decades. There is now evidence that most cancers may indeed be genetically unstable, but that the instability exists at two distinct levels. In a small subset of tumours, the instability is observed at the nucleotide level and results in base substitutions or deletions or insertions of a few nucleotides. In most other cancers, the instability is observed at the chromosome level, resulting in losses and gains of whole chromosomes or large portions thereof. Recognition and comparison of these instabilities are leading to new insights into tumour pathogenesis.
几十年来，人类肿瘤是否以及如何存在基因不稳定一直存在争议。现在有证据表明，大多数癌症可能确实存在基因不稳定，但这种不稳定存在于两个不同层面。在一小部分肿瘤中，在核苷酸水平观察到不稳定，导致碱基替换、缺失或几个核苷酸的插入。在大多数其他癌症中，在染色体水平观察到不稳定，导致整条染色体或其大部分的丢失和增加。对这些不稳定的认识和比较正为肿瘤发病机制带来新的见解。
