MICROSATELLITE INSTABILITY IN HUMAN COLONIC-CANCER IS NOT A USEFUL CLINICAL INDICATOR OF FAMILIAL COLORECTAL-CANCER
MICROSATELLITE INSTABILITY IN HUMAN COLONIC-CANCER IS NOT A USEFUL CLINICAL INDICATOR OF FAMILIAL COLORECTAL-CANCER
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DOI：
10.1016/0016-5085(95)90742-4
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发表时间：
1995-12-01
期刊：
影响因子：
29.4
通讯作者：
KERBER, RA
中科院分区：
文献类型：
--
作者：
SAMOWITZ, WS;SLATTERY, ML;KERBER, RA
背景与目的：微卫星不稳定性是遗传性非息肉病性结肠癌的一个特征。不稳定性也发生在10%-15%的明显散发性结直肠癌中，并且已经假设这种不稳定性可能表明结肠癌的遗传易感性。这项研究评估了结肠癌不稳定性和癌症家族史之间是否存在临床有用的关联。研究方法：采用10种聚合酶链反应引物对来自人群研究的结肠癌病例（n = 188）进行微卫星不稳定性评价。将不稳定结果与家族史和其他临床和生物学特征进行比较。结果：16.5%的肿瘤存在微卫星不稳定性。它主要是右侧肿瘤的特征（P = 0.003），与诊断时最年轻和最年长的年龄相关（P = 0.01）。不稳定性与癌症家族史、个体性别或谷胱甘肽-S-转移酶mu 1缺失基因型无关。结论：虽然一些非常小的，尚未确定的，比例的结肠癌可能是由遗传突变导致微卫星不稳定性，肿瘤本身的不稳定性不是一个标记的家族性，不应被视为遗传综合征的证据。
Background & Aims: Microsatellite instability is a property of most tumors occurring in the context of hereditary nonpolyposis colon cancer. Instability also occurs in 10%-15% of apparently sporadic colorectal cancers, and it has been hypothesized that this instability may indicate a genetic predisposition to colonic cancer. This study evaluated whether there is a clinically useful association between colon cancer instability and a family history of cancer. Methods: Colon cancer cases (n = 188) from a population-based study were evaluated for microsatellite instability with 10 polymerase chain reaction primer sets. Instability results were compared with family history and other clinical and biological characteristics. Results: Microsatellite instability was found in 16.5% of tumors. It was predominantly a feature of right-sided tumors (P = 0.003) and was associated with the youngest and oldest ages at diagnosis (P = 0.01). Instability was not associated with family history of cancer, sex of the individual, or the glutathione-S-transferase mu 1 null genotype. Conclusions: Although some very small, and as yet undefined, proportion of colon cancer may be caused by inherited mutations leading to microsatellite instability, tumoral instability by itself is not a marker for familiality and should not be considered as evidence for an inherited syndrome.