Results We found pathogenic mutations in STK11 gene in two families fulfilling the diagnostic criteria of PJS and in one of three sporadic cases not complying with the criteria. The patient with the frameshift mutation in STK11 gene developed aggressive gastric cancer. No other studied proband has...
[5] Zhao N, Wilkerson MD, Shah U, et al. Alterations of LKB1 and KRAS and risk of brain metastasis: comprehensive characterization by mutation analysis, copy number, and gene expression in non-small-cell lung carcinoma[J]. Lung C...
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 田艳 高峰 张德志 吴秀娟 普雄明. Peutz-Jeghers综合征STK11基因...
Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms Technical Data AA Change p.D194Y CDS Change c.580G>T...
which could be an indicator for the diagnosis of PJS in this fa m ily.And it may lead to a higher risk of cancer in patients. Keywords:Peutz—Jeghcrs syndrome;STK1 1 gene;tr uncated mutation 黑斑息肉综合征(Peutz—Jeghers syndrome,PJs),又 称黑斑 胃肠道多发性息 肉病 ,是一种临床上少见...
Moreover, nucleotide sequencing analysis of the whole coding region (exons 1 to 9) of STK11 gene was performed in 5 samples. A single nucleotide mutation, consisting of C to T transition at position 17587 in the intronic region 2 was detected in one case from Uganda out of 5 (20%) tot...
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 STK11 gene in Chinese with ...
Of the mutation subsets, STK11 was most associated with NR with a trend towards lower PD-L1 expression by clinical IHC, but much more significantly associated by gene expression signatures with low PD-L1 and T-cell inflammation. In our gene panel, we identified elevated TRIM29 expression in ...
Liver kinase 1 (LKB1 also known as STK11) is a tumor suppressor gene that is inactivated by bi-allelic mutation in non-small cell lung cancer (NSCLC), malignant melanoma and cervical cancer. LKB1 protein has a central kinase domain, two N-terminal nuclear leading sequences, and a C-termin...
We used the gene-level shRNA scores in the Achilles version 2.4 dataset. The zygosity of STK11 mutations in cancer cell lines was determined using somatic mutation data derived from the data portal of the Cancer Cell Line Encyclopedia (CCLE)38. The shRNA scores of ATP1A1 were compared ...