Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability.
Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability.
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DOI：
10.1006/gyno.1999.5486
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发表时间：
1999-09
影响因子：
4.7
通讯作者：
J. Basil;E. Swisher;T. Herzog;J. Rader;A. Elbendary;D. Mutch;P. Goodfellow
中科院分区：
文献类型：
--
作者：
J. Basil;E. Swisher;T. Herzog;J. Rader;A. Elbendary;D. Mutch;P. Goodfellow
目的：约20%的子宫内膜肿瘤存在DNA错配修复缺陷，表现为微卫星不稳定性（MSI）。我们评估了PMS2 DNA错配修复基因在MSI阳性散发性子宫内膜肿瘤中的作用。方法对40例散发性子宫内膜肿瘤标本进行MSI检测。所有15个外显子的PMS2基因进行了调查的单链构象变异分析的序列改变。结果共检测到12个多态性位点，其中8个位于编码区。四个标本显示内含子序列的突变，预计不会影响PMS2 mRNA。在PMS2基因的编码区内未检测到突变。结论PMS2基因结构突变与散发性子宫内膜癌MSI中DNA错配修复缺陷无关。PMS 2基因座单核苷酸多态性的鉴定可能有助于遗传性疾病的定位和表征。
OBJECTIVE Approximately 20% of endometrial tumors have a defect in DNA mismatch repair and exhibit microsatellite instability (MSI). We assessed the role of the PMS2 DNA mismatch repair gene in MSI-positive sporadic endometrial tumors. METHODS We examined 40 sporadic endometrial tumor specimens with MSI. All 15 exons of the PMS2 gene were investigated for sequence alterations by single-strand conformational variant analysis. RESULTS Twelve polymorphisms were identified, 8 of which were in the coding sequence. Four specimens revealed mutations in intronic sequences that are not predicted to affect the PMS2 mRNA. No mutations were detected within the coding region of the PMS2 gene. CONCLUSION We conclude that structural mutations in the PMS2 gene are not responsible for defective DNA mismatch repair in sporadic endometrial cancers with MSI. The identification of single nucleotide polymorphisms in the PMS2 locus may aid in the mapping and characterization of genetic diseases.