Hereditary Nonpolyposis Colorectal Cancer Patients Replication Errors in Benign and Malignant Tumors from
Hereditary Nonpolyposis Colorectal Cancer Patients Replication Errors in Benign and Malignant Tumors from
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2006
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L. Aaltonen;Jukka-Pekka;Mecklin;Jeremy;R. Jass;Jane S Green;H. Lynch;Patrice;Watson;G. Tallqvist;M. Juhola;P. Sistonen;Stanley;R. Hamilton;Kenneth;W. Kinzler;B. Vogelstein;Albert;De La Chapelle
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作者：
L. Aaltonen;Jukka-Pekka;Mecklin;Jeremy;R. Jass;Jane S Green;H. Lynch;Patrice;Watson;G. Tallqvist;M. Juhola;P. Sistonen;Stanley;R. Hamilton;Kenneth;W. Kinzler;B. Vogelstein;Albert;De La Chapelle
在散发性结肠Hal肿瘤和遗传性非息肉病性结直肠癌（HNPCC）患者的肿瘤中均记录了复制错误（RER）表型。在目前的研究中，发现49例散发性结直肠癌（CRC）中有8例（16%）和29例HNPCC患者的CRC中有25例（86%）为RER+。发现来自具有错配修复基因MSH 2的种系突变的HNPCC患者的所有9个（100%）CRC是RER+，而来自HNPCC激酶未连锁或未研究与MSH 2的连锁的20个CRC中的16个是U1 UK。在结肠直肠腺瘤中的相应分析显示，33个散发性肿瘤中仅1个（3%）是RER+，但14个HNPCC肿瘤中的8个（57%）是RER+。此外，RER被发现在所有6个结肠外癌（子宫内膜，2;肾，1;胃，1;十二指肠，1;和卵巢，1）来自HNPCC家族成员。这些数据表明，参与错配修复缺陷的癌前阶段的肿瘤发生在HNPCC的情况下，并表明，错配修复基因（MSH 2或其他）是有缺陷的生殖系几乎所有这些患者。
A replication error (RER) phenotype has been documented both in sporadic colon-Hal tumors and in tumors from patients with hereditary nonpolyposis colorectal cancer (HNPCC). In the current study 8 of 49 (16%) sporadic colorectal cancers (CRC's) and 25 of 29 (86%) CRCs from HNPCC patients were found to be RER+. All 9 (100%) CRCs from HNPCC patients with germline mutations of the mismatch repair gene MSH2 were found to be RER+, while 16 of 20 CRCs from HNPCC kindreds unlinked or not studied for linkage to MSH2 were Ul UK Corresponding analysis in colorectal adenomas revealed that only 1 of 33 (3%) sporadic tumors but 8 of 14 (57%) HNPCC tumors were RER+. Moreover, RER was found in all 6 extracolonic cancers (endometrium, 2; kidney, 1; stomach, 1; duodenum, 1; and ovary, 1) derived from members of HNPCC families. These data suggest the involvement of mismatch repair deficiency in the premalignant stage of tumorigenesis in HNPCC cases, and suggest that mismatch repair genes (MSH2 or others) are defective in the germline of nearly all these patients.