Xu L, Sgroi D, Sterner C J, Beauchamp R L, Pinney D M, Keel S, Ueki K, Rutter J L, Buckler A J, Louis D N
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston 02129.
Cancer Res. 1994 Oct 15;54(20):5262-4.
The CDKN2 gene that encodes the cell cycle regulatory protein cyclin-dependent kinase-4 inhibitor (p16) has recently been mapped to chromosome 9p21. Frequent homozygous deletions of this gene have been documented in cell lines derived from different types of tumors, including breast tumors, suggesting that CDKN2 is a tumor suppressor gene involved in a wide variety of human cancers. To determine the frequency of CDKN2 mutations in breast carcinomas, we screened 37 primary tumors and 5 established breast tumor cell lines by single-strand conformation polymorphism analysis. In addition, Southern blot analysis was performed on a set of five primary breast carcinoma samples and five breast tumor cell lines. Two of the five tumor cell lines revealed a homozygous deletion of the CDKN2 gene, but no mutations were observed in any of the primary breast carcinomas. These results suggest that the mutation of the CDKN2 gene may not be a critical genetic change in the formation of primary breast carcinoma.
编码细胞周期调节蛋白细胞周期蛋白依赖性激酶4抑制剂（p16）的CDKN2基因最近被定位到9号染色体的p21区域。在源自不同类型肿瘤（包括乳腺肿瘤）的细胞系中，已记录到该基因频繁的纯合缺失，这表明CDKN2是一种参与多种人类癌症的肿瘤抑制基因。为了确定乳腺癌中CDKN2突变的频率，我们通过单链构象多态性分析筛选了37例原发性肿瘤和5个已建立的乳腺肿瘤细胞系。此外，对一组5例原发性乳腺癌样本和5个乳腺肿瘤细胞系进行了Southern印迹分析。5个肿瘤细胞系中有2个显示出CDKN2基因的纯合缺失，但在任何原发性乳腺癌中均未观察到突变。这些结果表明，CDKN2基因的突变可能不是原发性乳腺癌形成中的关键遗传变化。
