Most cases of PJS involve the inactivation of germline mutations in the serine/threonine kinase gene STK11 which is also known as LKB1. The function of STK11 was previously linked to the tumor suppressor p53 and was shown to activate the p53 target p21/ WAF1. Recently, STK11 was reported ...
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RNA-sequencing of our isogenic cell lines showed that LK tumors have a distinct gene expression signature different from either of the single mutants with high expression of transcripts involved in cell division and cell survival.Conclusions: Our data suggests that co-mutation of STK11 and KEAP1 ...
Promoters carry the central regulatory information of genes, therefore, their correct annotation and characterization is vital to under- stand gene function. STK11 promoter has distinct cis-reg- ulatory elements, including three CCAAT boxes and GC- box that critically affect STK11 gene expression. ...
Ng, P. C. & Henikoff, S. Predicting the Effects of Amino Acid Substitutions on Protein Function.Annu. Rev. Genomics Hum. Genet.7, 61–80 (2006). ArticleCASPubMedGoogle Scholar Wang, Z.et al. A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients....
(Thr172)expression was significantly lower in gastric,colonic,and uterine polyps from PJS patients with missense variations than in non-PJS patients.Our findings indicate that these two missense STK11 variants are likely pathogenic and inactivate the STK11 gene,causing it to lose its function of ...
Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene [J]. Hum Genome Var, 2016, 3:16002. [8] Shorning BY, Clarke AR. Energy sensing and cancer: LKB1 function and lessons learnt ...
in patients with locally advanced or metastatic solid tumors with an STK11 loss-of-function mutation. STK11 loss-of-function mutations occur in approximately 15% of non-small cell lung cancer, 15% of cervical, 10% of carcinoma of unknown primary...
MA 05.02 STK11/LKB1 Loss of Function Genomic Alterations Predict Primary Resistance to PD-1/PD-L1 Axis Blockade in KRAS-Mutant NSCLC KRAS is the most common oncogenic driver in lung adenocarcinoma (LUAC). We previously reported that STK11/LKB1 (KL) or TP53 (KP) co-mutations define distinct...
In a PJS patient having a germline splice site mutation in the STK11/LKB1 gene, sequencing analysis of an intestinal polyp and pancreatic cancer from this patient revealed loss of the wild-type allele of the STK11/LKB1 gene in the cancer. Inactivation of STK11/LKB1, by homozygous deletions ...