Hereditary non‐polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations
Hereditary non‐polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations
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遗传性非息肉病性结直肠癌以及 hPMS2 和 hEXO1 突变的作用
DOI：
10.1111/j.1399-0004.2004.00214.x
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发表时间：
2004
影响因子：
3.5
通讯作者：
Rodney J. Scott
中科院分区：
文献类型：
--
作者：
E. Thompson;C. Meldrum;R. Crooks;M. McPhillips;L. Thomas;A. Spigelman;Rodney J. Scott;Rodney J. Scott
遗传性非息肉病性结直肠癌（HNPCC）是一种常染色体显性遗传性疾病，其主要特征是发生早发性结直肠癌和许多其他上皮恶性肿瘤。该疾病的潜在遗传基础与 DNA 错配修复的破坏有关。有许多基因参与 DNA 错配修复，其中 5 个基因与 HNPCC 有关。其中两个基因（hMSH2 和 hMLH1）占 HNPCC 家族的大多数（约 60%），目前尚不清楚其余三个基因（hPMS1、hPMS2 和 hMSH6）与这种情况的确切贡献。此外，第六个基因 (hEXO1) 与与 HNPCC 一致的疾病表型相关。目前的估计表明，所有这四种基因加起来可能占家庭的 5%。在本报告中，我们研究了 hPMS2 和 hEXO1 对一组明确的满足 HNPCC 诊断标准的家族的贡献。通过变性高效液相色谱 (DHPLC) 分析 21 个家族，对 hPMS2 和 hEXO1 基因进行了研究，这些家族此前已确定 hMSH2 或 hMLH1 中没有突变。 hPMS2 只占 HNPCC 家族的一小部分，并且没有一个被认为与 hEXO1 相关。 hPMS2 突变似乎只占遵守阿姆斯特丹 II 标准的一小部分家庭，而 hEXO1 似乎与 HNPCC 无关。
Hereditary non‐polyposis colorectal cancer (HNPCC) is an autosomal dominant, inherited condition that is characterized primarily by the development of early‐onset colorectal cancer and a number of other epithelial malignancies. The underlying genetic basis of the disease is associated with a breakdown of DNA‐mismatch repair. There are many genes involved in DNA‐mismatch repair, and five of them have been implicated in HNPCC. Two of the genes (hMSH2 and hMLH1) account for the majority of HNPCC families (approximately 60%), and it is not known what the exact contributions of the remaining three genes (hPMS1, hPMS2, and hMSH6) are in relation to this condition. In addition, a sixth gene (hEXO1) has been associated with a disease phenotype that is consistent with HNPCC. Current estimates suggest that all four of these genes, combined, may account for up to 5% of families. In this report, we examine the contribution of hPMS2 and hEXO1 to a well‐defined set of families that fulfill the diagnostic criteria for HNPCC. The genes, hPMS2 and hEXO1, were studied by denaturing high performance liquid chromatography (DHPLC) analysis in 21 families that have previously been determined not to have mutations in hMSH2 or hMLH1. hPMS2 accounts for a small proportion of HNPCC families, and none were deemed to be associated with hEXO1. Mutations in hPMS2 appear to account for a small proportion of families adhering to the Amsterdam II criteria, whereas hEXO1 does not appear to be associated with HNPCC.
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影响因子：
64.5
作者：
FISHEL, R;LESCOE, MK;KOLODNER, R
通讯作者：
KOLODNER, R
影响因子：
11.2
作者：
Tao Liu;Hai Yan;S. Kuismanen;Antonio Percesepe;M. Bisgaard;M. Pedroni;P. Benatti;K. Kinzler;B. Vogelstein;M. P. D. Leon;P. Peltomäki;Annika Lindblom
通讯作者：
Tao Liu;Hai Yan;S. Kuismanen;Antonio Percesepe;M. Bisgaard;M. Pedroni;P. Benatti;K. Kinzler;B. Vogelstein;M. P. D. Leon;P. Peltomäki;Annika Lindblom
影响因子：
4.7
作者：
J. Basil;E. Swisher;T. Herzog;J. Rader;A. Elbendary;D. Mutch;P. Goodfellow
通讯作者：
J. Basil;E. Swisher;T. Herzog;J. Rader;A. Elbendary;D. Mutch;P. Goodfellow
影响因子：
29.4
作者：
Peltomaki, P;Vasen, HFA;Wijnen, J
通讯作者：
Wijnen, J