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NBS1是一种前列腺癌易感基因。

NBS1 is a prostate cancer susceptibility gene.

作者信息

Cybulski C, Górski B, Debniak T, Gliniewicz B, Mierzejewski M, Masojć B, Jakubowska A, Matyjasik J, Złowocka E, Sikorski A, Narod S A, Lubiński J

机构信息

Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul. Polabska 4, 70-115 Szczecin, Poland.

出版信息

Cancer Res. 2004 Feb 15;64(4):1215-9. doi: 10.1158/0008-5472.can-03-2502.

Abstract

To evaluate whether an inactivating mutation in the gene for the Nijmegen breakage syndrome (NBS1) plays a role in the etiology of prostate cancer, we compared the prevalence of the 657del5 NBS1 founder allele in 56 patients with familial prostate cancer, 305 patients with nonfamilial prostate cancer, and 1500 control subjects from Poland. Loss of heterozygosity analysis also was performed on DNA samples isolated from 17 microdissected prostate cancers, including 8 from carriers of the 657del5 mutation. The NBS1 founder mutation was present in 5 of 56 (9%) patients with familial prostate cancer (odds ratio, 16; P < 0.0001), 7 of 305 (2.2%) patients with nonfamilial prostate cancer (odds ratio, 3.9; P = 0.01), and 9 of 1500 control subjects (0.6%). The wild-type NBS1 allele was lost in seven of eight prostate tumors from carriers of the 657del5 allele, but loss of heterozygosity was seen in only one of nine tumors from noncarriers (P = 0.003). These findings suggest that heterozygous carriers of the NBS1 founder mutation exhibit increased susceptibility to prostate cancer and that the cancers that develop in the prostates of carriers are functionally homozygous for the mutation.

摘要

为评估尼曼匹克氏症断裂综合征(NBS1)基因的失活突变是否在前列腺癌病因学中起作用,我们比较了56例家族性前列腺癌患者、305例非家族性前列腺癌患者以及1500名来自波兰的对照者中NBS1基因657del5始祖等位基因的流行率。还对从17例显微切割的前列腺癌中分离的DNA样本进行了杂合性缺失分析,其中8例来自657del5突变携带者。在56例家族性前列腺癌患者中有5例(9%)存在NBS1始祖突变(优势比为16;P < 0.0001),305例非家族性前列腺癌患者中有7例(2.2%)存在该突变(优势比为3.9;P = 0.01),1500名对照者中有9例(0.6%)存在该突变。在8例来自657del5等位基因携带者的前列腺肿瘤中有7例野生型NBS1等位基因缺失,但在9例来自非携带者的肿瘤中只有1例出现杂合性缺失(P = 0.003)。这些发现表明,NBS1始祖突变的杂合携带者对前列腺癌的易感性增加,且携带者前列腺中发生的癌症在功能上对该突变为纯合状态。

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