Sanchez-Cespedes M
Molecular Pathology Programme, Spanish National Cancer Centre (CNIO), Melchor Fernandez Almagro, Madrid, Spain.
Oncogene. 2007 Dec 13;26(57):7825-32. doi: 10.1038/sj.onc.1210594. Epub 2007 Jun 18.
Germline LKB1 mutations are responsible for Peutz-Jeghers syndrome (PJS). Tumors at several locations frequently arise in these patients, confirming that LKB1 is linked to cancer predisposition and is therefore a bona fide tumor-suppressor gene. In humans, the LKB1 gene is located in the short arm of chromosome 19, which is frequently deleted in many tumors of sporadic origin. However, LKB1 alterations in tumors other than those of PJS are rarely reported. Notably, this is not the case for non-small-cell lung cancer, where nearly half of the tumors harbor somatic and homozygous inactivating mutations in LKB1. The present review considers the frequency and pattern of LKB1 gene mutations in sporadic cancers of various origins, and the role of the encoded protein in cancer development.
种系LKB1突变是黑斑息肉综合征（PJS）的病因。这些患者常出现多个部位的肿瘤，证实LKB1与癌症易感性相关，因此是一种真正的肿瘤抑制基因。在人类中，LKB1基因位于19号染色体短臂，在许多散发性肿瘤中该区域常发生缺失。然而，除PJS肿瘤外，其他肿瘤中LKB1改变的报道很少。值得注意的是，非小细胞肺癌并非如此，近一半的肿瘤存在LKB1的体细胞纯合失活突变。本综述探讨了不同起源散发性癌症中LKB1基因突变的频率和模式，以及编码蛋白在癌症发生中的作用。
