GENETIC mutationPEUTZ-Jeghers syndromeSOMATIC mutationGermline mutations affecting STK11 (LRG_319) are profoundly studied in relation to Peutz-Jeghers syndrome, predisposing to the development of various cancers at multiple sites. Though somatic mutations in STK11 are found to be present in several ...
No mutation was detected in any of the 3 sporadic patients. Conclusion A new STK11 gene mutation, G2039C, is found in a Chinese PJS pedigree, which may be involved in the genetic basis of PJS. Key words: 【Keywords】 Peutz-Jeghers syndrome(PJS), STK11 gene, Mutation 引用本文 康晓静...
Objective To analyze the STK11 gene mutation in a sporadic Chinese patient with Peutz-Jeghers syndrome (PJS) so as to provide a basis for the genetic diagnosis and counseling of PJS. Methods Whole blood samples were obtained from a female patient with PJS, her parents and sister, as well as...
提示,PJS可能有遗传异质性。 STK11 Gene Mutation in Chinese with PJS LI Yixiong , LU Xinsheng, XIA Jiahui, et al.*Affiliated Xiangya Hospital, National Laboratory of Medical Genetics, Hunan Medical University. Changsha 410078,China 【Abstract】 Objectives To understand the mutation characteristic of S...
We report on a Korean PJS patient with a novel STK11 mutation. During molecular genetic testing for STK11 mutation, we detected a novel small deletion in exon 6, causing a premature stop codon. This mutation was absent in both parents of the patient and was thus a de novo mutation. ...
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“The TNG260 phase 1/2 clinical trial is the first trial to use genetic patient selection in combination with checkpoint inhibitor therapy to reverse the cancer-specific immune evasion caused by STK11 loss of function mutations. Resistance to immunothe...
【K ey w or ds】 Peutz2Jeghers syndrome;S TK11gene;Mutation (Chin J Dis Control Prev2008,12(2):1152117) 黑斑息肉综合征又称Peutz2Jeghers综合征(Peutz2Jeghers Snydrome,P J S,OMIM#175200)是一种常染色体显性遗传性皮肤病,发病率约为1/ 200000。其临床特征是口唇粘膜色素沉着斑和消化道多发性...
A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report.###A giant and extensive solitary Peutz-Jeghers-type polyp in the antrum of stomach: Case report.###A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and...
基因检测发现,4例患儿均存在STK11基因杂合突变,突变位点分别为c.582 C>A,c.580 G>A,c.719 C>G以及c.879 insA突变.结论 基因检测有助于早期诊断PJS,STK11基因c.879 insA突变为国内外未报道的新突变.%Objective To investigate clinical features of Peutz-Jeghers syndrome(PJS)and genetic change in STK11...