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Tumor classification as indication of hereditary non-polyposis colorectal carcinoma

机译:肿瘤分类可作为遗传性非息肉性大肠癌的指征

摘要

Markers on chromosome 2 are associated with cancer predisposition, as shown by linkage analysis, in a significant fraction of families with a history of colon and other cancers. Tumors from these patients progressed through the same series of accumulated mutations in oncogenes and tumor suppressor genes found in non-familial cases, but showed no losses of heterozygosity for the linked chromosome 2 markers. DNA from the tumors (but not normal tissues) in most familial cases revealed a consistent and distinct abnormality: rearrangements in short repeated sequences throughout their genomes. This abnormality suggests that a large number of replication errors had occurred during tumor development. Methods are presented for detecting the presence of the gene which predisposes people to have colon and other tumors and for utilizing this information for diagnostic, prognostic, and preventive purposes. DNA markers useful for such methods are also described.
机译:如连锁分析所示,第2号染色体上的标记与癌症易感性相关,在相当一部分具有结肠癌和其他癌症病史的家庭中。这些患者的肿瘤通过在非家族性病例中发现的癌基因和抑癌基因的相同系列累积突变进展,但对连锁的2号染色体标记未显示杂合性损失。在大多数家族性病例中,来自肿瘤(但非正常组织)的DNA表现出一致且明显的异常:整个基因组中短重复序列的重排。该异常提示在肿瘤发生过程中发生了大量复制错误。提出了用于检测使人容易患结肠癌和其他肿瘤的基因的存在以及将这些信息用于诊断,预后和预防目的的方法。还描述了可用于这种方法的DNA标记。

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