Kohno T, Takahashi M, Fukutomi T, Ushio K, Yokota J
Biology Division, National Cancer Center Research Institute, Tokyo.
Jpn J Cancer Res. 1998 May;89(5):471-4. doi: 10.1111/j.1349-7006.1998.tb03285.x.
Cowden disease (CD) is an autosomal dominant disorder which confers a high susceptibility to diverse benign and malignant tumors. The PTEN/MMAC1 gene was identified as being responsible for CD, since its germline mutations have been identified in affected individuals in the United States and Europe. We identified three novel germline PTEN mutations, a 2-bp deletion, a 1-bp insertion and a missense mutation, in three of five Japanese patients with CD. The missense mutation resided outside of the region encoding a putative phosphatase domain of the predicted PTEN protein, where previously reported missense mutations in CD patients have been clustered. The present result suggests that a wide range of germline PTEN mutations may play a role in the pathogenesis of CD.
考登病（CD）是一种常染色体显性疾病，它使患者对多种良性和恶性肿瘤具有高度易感性。PTEN/MMAC1基因被确定为与考登病相关，因为在美国和欧洲的患病个体中已发现该基因的种系突变。我们在五名日本考登病患者中的三名患者身上鉴定出三个新的种系PTEN突变，一个2碱基对缺失、一个1碱基对插入和一个错义突变。该错义突变位于预测的PTEN蛋白假定磷酸酶结构域编码区域之外，此前报道的考登病患者错义突变都聚集在该区域。目前的结果表明，广泛的种系PTEN突变可能在考登病的发病机制中起作用。
