Rochlitz C F, Heide I, de Kant E, Neubauer A, Schmidt C A, Neuhaus P, Huhn D, Herrmann R
Department Innere Medizin, Kantonsspital Basel.
Br J Cancer. 1993 Sep;68(3):519-23. doi: 10.1038/bjc.1993.379.
Cells of a patient with Turcot's syndrome and of her parents were evaluated for the presence of molecular alterations in the p53 and the Ki-ras gene. Deletions on chromosome 17p, overexpression and point mutations of the p53 gene as well as mutations of the Ki-ras gene were detected in primary and metastatic tumour but not in the germline of the patient nor in her parents.
对一名患有Turcot综合征患者及其父母的细胞进行评估，以检测p53和Ki-ras基因的分子改变情况。在原发性和转移性肿瘤中检测到17号染色体短臂缺失、p53基因的过表达和点突变以及Ki-ras基因的突变，但在患者及其父母的生殖系中未检测到。
