Lalle P, Moyret C, Bignon Y J
Molecular Oncology Laboratory, Centre Jean Perrin, Clermont-Ferrand, France.
Cancer Genet Cytogenet. 1994 Sep;76(2):148-50. doi: 10.1016/0165-4608(94)90467-7.
Previous studies have shown p53 germ-line mutations in some familial cancer aggregations with or without the Li-Fraumeni syndrome (LFS). Such mutations were also reported in children and young adults with second malignant neoplasms (SMN). This led us to screen for p53 germ-line mutations in a group of seven patients affected with SMN, but characterized by an older age of onset than in the previous reports. No mutation was found in exons 4 to 8 and their boundaries using the single-strand conformation polymorphism technique. Our results give strong evidence for genetic heterogeneity of SMN, probably related to the age of cancer onset.
先前的研究表明，在一些伴有或不伴有李-佛美尼综合征（LFS）的家族性癌症聚集病例中存在p53种系突变。在患有第二原发性恶性肿瘤（SMN）的儿童和年轻人中也报道过此类突变。这促使我们对一组7例患有SMN但发病年龄比先前报道的患者更大的患者进行p53种系突变筛查。使用单链构象多态性技术，在第4至8外显子及其边界未发现突变。我们的结果有力地证明了SMN的遗传异质性，这可能与癌症发病年龄有关。
