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上皮性卵巢肿瘤中位于家族性乳腺癌/卵巢癌基因座远端的17号染色体长臂上的一个缺失单元。

A deletion unit on chromosome 17q in epithelial ovarian tumors distal to the familial breast/ovarian cancer locus.

作者信息

Jacobs I J, Smith S A, Wiseman R W, Futreal P A, Harrington T, Osborne R J, Leech V, Molyneux A, Berchuck A, Ponder B A

机构信息

Cancer Research Campaign Human Cancer Genetics Group, University of Cambridge, United Kingdom.

出版信息

Cancer Res. 1993 Mar 15;53(6):1218-21.

PMID:8095178
Abstract

Linkage analysis in familial breast and ovarian cancer and studies of allelic deletion in sporadic ovarian tumors have suggested that chromosome 17q may be the location of a gene of importance in ovarian carcinogenesis. We have examined tumor and normal DNA samples from 120 patients with ovarian tumors for allelic deletion at 12 loci on chromosome 17q. Allelic deletion was observed in 64 cases (53%) of which 56 showed loss of heterozygosity at all loci analyzed on 17q. The pattern of allele loss at metastatic sites was consistent with loss of heterozygosity having occurred prior to metastasis. A common region of deletion, defined by 6 cases of invasive epithelial ovarian cancer and a benign serous cystadenoma, spanned 16 cM and was delimited by nm23 and GH. This region is distal to the region on chromosome 17q to which the familial breast/ovarian cancer susceptibility gene has been mapped. The results suggest that a tumor suppressor gene involved in sporadic ovarian carcinogenesis is located on the distal portion of chromosome 17q and is distinct from the gene linked to familial cases.

摘要

家族性乳腺癌和卵巢癌的连锁分析以及散发性卵巢肿瘤的等位基因缺失研究表明,17号染色体长臂(17q)可能是在卵巢癌发生过程中起重要作用的一个基因的所在位置。我们检测了120例卵巢肿瘤患者的肿瘤和正常DNA样本,以分析17q染色体上12个位点的等位基因缺失情况。在64例(53%)病例中观察到等位基因缺失,其中56例在17q上所有分析位点均显示杂合性缺失。转移部位的等位基因丢失模式与转移前发生的杂合性缺失一致。由6例浸润性上皮性卵巢癌和1例良性浆液性囊腺瘤所确定的一个常见缺失区域,跨度为16厘摩(cM),并由nm23和GH界定。该区域位于17q染色体上家族性乳腺癌/卵巢癌易感基因所定位区域的远端。结果表明,参与散发性卵巢癌发生的一个肿瘤抑制基因位于17q染色体的远端部分,且与家族性病例相关的基因不同。

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