MDAs with the STK11 mutation had a significantly poorer prognosis than MDAs without the STK11 mutation (p = 0.039). A germline mutation of STK11 was detected in one PJS patient with mucinous adenocarcinoma of the uterine cervix. These results suggest that mutations in the STK11 gene may play...
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...
[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...
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...
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...
In another study, mutations in STK11, the 3rd most frequently mutated gene in lung cancer, were identified in 18.2% of 22 patients with adrenal metastases from lung cancer.74 The information regarding the frequency of this mutation may aid in future drug development and provide prognostic data ...
Wani2 • Somaya Alqattan1 • Seema Zargar1 Received: 29 November 2016 / Accepted: 25 September 2017 / Published online: 4 October 2017 Ó Springer-Verlag GmbH Germany 2017 Abstract Serine/threonine kinase gene (STK11) is identi- fied as tumor suppressor gene whose mutation can lead to...
A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.doi:10.1007/s10620-017-4741-5De-novo mutationHamartomaPeutz–Jeghers syndromePolyposisSTK11Peutz-Jeghers syndrome (PJS) is an autosomal-dominant genetic disease ...