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卵巢癌和乳腺癌中17号染色体长臂的详细缺失图谱:17q21.3上2厘摩区域在肿瘤中经常且普遍缺失。

Detailed deletion mapping of chromosome 17q in ovarian and breast cancers: 2-cM region on 17q21.3 often and commonly deleted in tumors.

作者信息

Saito H, Inazawa J, Saito S, Kasumi F, Koi S, Sagae S, Kudo R, Saito J, Noda K, Nakamura Y

机构信息

Department of Biochemistry, Cancer Institute, Tokyo, Japan.

出版信息

Cancer Res. 1993 Jul 15;53(14):3382-5.

PMID:8100738
Abstract

Using 11 restriction fragment length polymorphism markers, we examined loss of heterozygosity on the long arm of chromosome 17, where one or more genes responsible for hereditary breast and ovarian cancers may be present, in sporadic forms of 94 ovarian and 246 breast cancers. Loss of heterozygosity was observed in 33 of 84 (39.3%) ovarian and in 88 of 214 (41.1%) breast cancers that were informative with at least one marker. Detailed deletion mapping of chromosome 17q in these cancers identified two distinct, commonly deleted regions. One was located between 17q12 and 17q21.3 and the other between 17q25.1 and 17q25.3. In breast cancers, the proximal commonly deleted region was between two loci defined by markers CI17-701 and CI17-730 at 17q21.3, which are 2.4 cM apart. This segment overlaps the region that includes the putative gene for hereditary breast and ovarian carcinomas. The results suggest that at least two tumor suppressor genes associated with sporadic ovarian and breast cancers are present on chromosome 17q and that one of them may be the same gene that is responsible for the hereditary form.

摘要

我们使用11个限制性片段长度多态性标记,检测了94例散发性卵巢癌和246例散发性乳腺癌中17号染色体长臂上杂合性缺失的情况,该区域可能存在一个或多个与遗传性乳腺癌和卵巢癌相关的基因。在至少有一个标记具有信息性的84例卵巢癌中的33例(39.3%)以及214例乳腺癌中的88例(41.1%)中观察到了杂合性缺失。对这些癌症中17q染色体进行详细的缺失图谱分析,确定了两个不同的常见缺失区域。一个位于17q12和17q21.3之间,另一个位于17q25.1和17q25.3之间。在乳腺癌中,近端常见缺失区域位于17q21.3上由标记CI17 - 701和CI17 - 730定义的两个位点之间,这两个位点相距2.4厘摩。该片段与包含遗传性乳腺癌和卵巢癌假定基因的区域重叠。结果表明,17q染色体上存在至少两个与散发性卵巢癌和乳腺癌相关的肿瘤抑制基因,其中一个可能与遗传性癌症中的是同一个基因。

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