Loss of heterozygosity at the ATBF1-A locus located in the 16q22 minimal region in breast cancer.
Loss of heterozygosity at the ATBF1-A locus located in the 16q22 minimal region in breast cancer.
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DOI：
10.1186/1471-2407-8-262
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发表时间：
2008-09-16
期刊：
影响因子：
3.8
通讯作者：
Iwase H
中科院分区：
文献类型：
--
作者：
Kai K;Zhang Z;Yamashita H;Yamamoto Y;Miura Y;Iwase H
16号染色体长臂上的杂合性丢失（洛）是实体瘤中最常见的遗传事件之一。最近，AT基序结合因子1（ATBF 1）-A基因，已被分配到染色体16q22.3-23.1，被确定为一个合理的候选人，在实体瘤的肿瘤抑制，由于其功能性抑制细胞增殖和高突变率在前列腺癌。我们以前报道过ATBF 1-A mRNA水平的降低与乳腺癌预后不良相关。然而，调节ATBF 1-A mRNA水平降低的机制（如突变、启动子区甲基化或编码区缺失）尚未得到充分研究。此外，很少有研究分析位于16 q22最小区域的ATBF 1-A位点的洛合性缺失状态。使用了我们先前报告的127例病例的ATBF 1-A mRNA水平谱。在这项研究中，乳腺癌标本以及自体血液样本的洛使用6个多态性微卫星标记染色体带16 q22筛选。对于突变分析，我们选择了12个病例，并分析了ATBF 1-A编码区中的选定点，在这些点上突变在前列腺癌中经常被报道。43例在D16 S3106和D16 S3018两个微卫星上（最接近ATBF 1-A基因的位置）均产生明确的洛合性缺失状态的病例被认为是有信息的，并被分为两组：洛合性缺失（22例）和杂合性保留（21例）。根据ATBF 1-A基因座的洛合性缺失状态对ATBF 1-A mRNA水平进行比较评估，结果表明两者之间无相关性。在12例筛选突变分析，有没有体细胞突变与氨基酸取代或移码，但是，观察到两个可能的多态性生殖系的改变。这些发现表明ATBF 1-A mRNA水平在转录阶段受到调控，但不受遗传机制、缺失（洛）或突变的调控。
Loss of heterozygosity (LOH) on the long arm of chromosome 16 is one of the most frequent genetic events in solid tumors. Recently, the AT-motif binding factor 1 (ATBF1)-A gene, which has been assigned to chromosome 16q22.3-23.1, was identified as a plausible candidate for tumor suppression in solid tumors due to its functional inhibition of cell proliferation and high mutation rate in prostate cancer. We previously reported that a reduction in ATBF1-A mRNA levels correlated with a worse prognosis in breast cancer. However, the mechanisms regulating the reduction of ATBF1-A mRNA levels (such as mutation, methylation in the promoter region, or deletion spanning the coding region) have not been fully examined. In addition, few studies have analyzed LOH status at the ATBF1-A locus, located in the 16q22 minimal region. Profiles of ATBF1-A mRNA levels that we previously reported for 127 cases were used. In this study, breast cancer specimens as well as autologous blood samples were screened for LOH using 6 polymorphic microsatellite markers spanning chromosome band 16q22. For mutational analysis, we selected 12 cases and analyzed selected spots in the ATBF1-A coding region at which mutations have been frequently reported in prostate cancer. Forty-three cases that yielded clear profiles of LOH status at both D16S3106 and D16S3018 microsatellites, nearest to the location of the ATBF1-A gene, were regarded as informative and were classified into two groups: LOH (22 cases) and retention of heterozygosity (21 cases). Comparative assessment of the ATBF1-A mRNA levels according to LOH status at the ATBF1-A locus demonstrated no relationship between them. In the 12 cases screened for mutational analysis, there were no somatic mutations with amino acid substitution or frameshift; however, two germ line alterations with possible polymorphisms were observed. These findings imply that ATBF1-A mRNA levels are regulated at the transcriptional stage, but not by genetic mechanisms, deletions (LOH), or mutations.
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影响因子：
3.8
作者：
Cleton-Jansen, Anne-Marie;van Eijk, Ronald;Lombaerts, Marcel;Schmidt, Marjanka K.;Van't Veer, Laura J.;Philippo, Katja;Zimmerman, Rhyenne M. E.;Peterse, Johannes L.;Smit, Vincent T. B. H. M.;van Wezel, Tom;Cornelisse, Cees J.
通讯作者：
Cornelisse, Cees J.
16和17染色体的遗传改变是导管癌的重要特征，与组织学类型有关。
影响因子：
8.8
作者：
Vos, CBJ;ter Haar, NT;Rosenberg, C;Peterse, JL;Cleton-Jansen, AM;Cornelisse, CJ;van de Vijver, MJ
通讯作者：
van de Vijver, MJ
影响因子：
2.8
作者：
Xu, Junyan;Sauvageot, Jurga;Isaacs, William B.
通讯作者：
Isaacs, William B.
DOI：
10.1007/bf02966980
发表时间：
1996-12-20
期刊：
Breast cancer (Tokyo, Japan)
影响因子：
--
作者：
Yamashita;Iwase;Kobayashi
通讯作者：
Kobayashi
影响因子：
11.4
作者：
Berx, G;CletonJansen, AM;vanRoy, F
通讯作者：
vanRoy, F