Ayan I, Luca J W, Jaffe N, Yazici H, Ekmekçioğlu S, Hansen M F
Dept. of Pediatric Oncology, University of Istanbul, Institute of Oncology, Turkey.
J Exp Clin Cancer Res. 1998 Dec;17(4):497-502.
Although somatic mutations of p53 are the most common genetic changes observed to date, the frequency of germline p53 mutations is found to be very low in sporadic malignant tumors. It has been postulated that de novo germline p53 mutations may occur in a substantial population of patients in pediatric age group, who die of their disease and do not propagate the mutation. To determine the frequency and type of p53 germline mutations in pediatric patients, we screened 65 children who were consecutively admitted with primary malignant solid tumors.
尽管p53的体细胞突变是迄今为止观察到的最常见的基因变化，但在散发性恶性肿瘤中，种系p53突变的频率非常低。据推测，在儿科年龄组的大量患者中可能会发生新生种系p53突变，这些患者死于疾病且不会传播该突变。为了确定儿科患者中p53种系突变的频率和类型，我们对65名因原发性恶性实体瘤而连续入院的儿童进行了筛查。
