Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors.
Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors.
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发表时间：
1997-06
期刊：
影响因子：
11.2
通讯作者：
Jingwu Xie;Ronald L. Johnson;Xiaoli Zhang;J. Bare;F. Waldman;P. Cogen;A. Menon;R. Warren;Ling Chun Chen;Matthew P. Scott;E. Epstein
中科院分区：
文献类型：
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作者：
Jingwu Xie;Ronald L. Johnson;Xiaoli Zhang;J. Bare;F. Waldman;P. Cogen;A. Menon;R. Warren;Ling Chun Chen;Matthew P. Scott;E. Epstein
基底细胞痣综合征患者多发性基底细胞癌、髓母细胞瘤和脑膜瘤的发病率很高。由于在散发性基底细胞癌中发现了体细胞PATCHED（PTCH）突变，我们在几种类型的散发性皮外肿瘤中筛选了PTCH突变。我们发现14例散发性髓母细胞瘤中有2例在一个拷贝的基因中发生体细胞无义突变，另一个拷贝也发生缺失。此外，我们在7个乳腺癌中的2个、9个脑膜瘤中的1个和1个结肠癌细胞系中发现了PTCH的错义突变。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。
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.