Xie J, Johnson R L, Zhang X, Bare J W, Waldman F M, Cogen P H, Menon A G, Warren R S, Chen L C, Scott M P, Epstein E H
Department of Dermatology, University of California School of Medicine, San Francisco 94143, USA.
Cancer Res. 1997 Jun 15;57(12):2369-72.
Patients with basal cell nevus syndrome have a high incidence of multiple basal cell carcinomas, medulloblastomas, and meningiomas. Because somatic PATCHED (PTCH) mutations have been found in sporadic basal cell carcinomas, we have screened for PTCH mutations in several types of sporadic extracutaneous tumors. We found that 2 of 14 sporadic medulloblastomas bear somatic nonsense mutations in one copy of the gene and also deletion of the other copy. In addition, we identified missense mutations in PTCH in two of seven breast carcinomas, one of nine meningiomas, and one colon cancer cell line. No PTCH gene mutations were detected in 10 primary colon carcinomas and eighteen bladder carcinomas.
基底细胞痣综合征患者发生多发性基底细胞癌、髓母细胞瘤和脑膜瘤的几率很高。由于在散发性基底细胞癌中已发现体细胞patched（PTCH）突变，我们对几种散发性皮肤外肿瘤进行了PTCH突变筛查。我们发现，14例散发性髓母细胞瘤中有2例在该基因的一个拷贝中存在体细胞无义突变，另一个拷贝缺失。此外，我们在7例乳腺癌中的2例、9例脑膜瘤中的1例和1例结肠癌细胞系中鉴定出PTCH错义突变。在10例原发性结肠癌和18例膀胱癌中未检测到PTCH基因突变。
