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上皮性卵巢癌中6号染色体q27区域杂合性缺失及p53基因突变

Loss of heterozygosity on chromosome 6q27 and p53 mutations in epithelial ovarian cancer.

作者信息

Suzuki M, Saito S, Saga Y, Ohwada M, Sato I

机构信息

Department of Obstetrics and Gynecology, Jichi Medical School, Tochigi, Japan.

出版信息

Med Oncol. 1998 Jul;15(2):119-23. doi: 10.1007/BF02989590.

Abstract

Loss of heterozygosity (LOH) in chromosome region 6q27 and p53 mutations were studied to attempt to clarify the genetic etiology of ovarian cancer, with particular reference to clear cell adenocarcinoma (CCC), which has a poor prognosis. 6q27 LOH in 70 epithelial ovarian cancer patients was examined using four restriction fragment length polymorphism markers located at 6q27; p53 mutations in tumor DNA were detected using polymerase chain reaction single-strand conformation polymorphism and sequencing. 6q27 LOH was confirmed in 26 of 48 informative cases (54.2%). No differences in the incidence of 6q27 LOH were seen by histologic type; 6q27 LOH was observed in 45% (5/11) of CCCs. p53 mutations were detected in 19 of the 48 tumors (39.6%), but in only one (9%) CCC. These results suggest that a putative tumor suppressor gene involved in the onset of epithelial ovarian cancer is located at 6q27. This gene is one of the keys to clarifying the genetic etiology of epithelial ovarian cancer and particularly CCC, given the low incidence of p53 mutations in this tumor type.

摘要

研究了6q27染色体区域的杂合性缺失(LOH)和p53突变,试图阐明卵巢癌的遗传病因,特别是预后较差的透明细胞腺癌(CCC)。使用位于6q27的四个限制性片段长度多态性标记物检测了70例上皮性卵巢癌患者的6q27 LOH;使用聚合酶链反应单链构象多态性和测序检测肿瘤DNA中的p53突变。在48例信息可分析的病例中,有26例(54.2%)证实存在6q27 LOH。按组织学类型来看,6q27 LOH的发生率没有差异;在45%(5/11)的CCC中观察到6q27 LOH。在48个肿瘤中有19个(39.6%)检测到p53突变,但在CCC中仅1个(9%)检测到。这些结果表明,一个与上皮性卵巢癌发病相关的假定肿瘤抑制基因位于6q27。鉴于该肿瘤类型中p53突变的发生率较低,该基因是阐明上皮性卵巢癌尤其是CCC遗传病因的关键之一。

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