STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032584
Disease: polyps
polyps
0.100 Biomarker phenotype BEFREE The signaling pathway activated by metformin (LKB1/AMPK/mTOR) is implicated in tumor suppression in ApcMin/+ mice via metformin-induced reduction in polyp burden, increased ratio of pAMPK/AMPK, decreased pmTOR/mTOR ratio, and decreased pS6Ser235/S6Ser235 ratio in polyps. 31818851 2020
CUI: C0032584
Disease: polyps
polyps
0.100 GeneticVariation phenotype BEFREE Adult patients with a proven LKB1 mutation and who were suitable for everolimus treatment were included in two different PJS cohorts: (a) patients with unresectable malignancies and (b) patients with high-risk polyps. 29371475 2018
CUI: C0032584
Disease: polyps
polyps
0.100 GeneticVariation phenotype BEFREE Researchers established a possible mechanism for how a STK11 mutation in T cells could lead to polyps associated with the syndrome. 30143518 2018
CUI: C0032584
Disease: polyps
polyps
0.100 GeneticVariation phenotype BEFREE Germline mutations in <i>STK11</i>, which encodes the tumor suppressor liver kinase B1 (LKB1), promote Peutz-Jeghers syndrome (PJS), a cancer predisposition syndrome characterized by the development of gastrointestinal (GI) polyps. 30049881 2018
CUI: C0032584
Disease: polyps
polyps
0.100 Biomarker phenotype BEFREE This study identified aberrant expression of SHH pathway molecules in PJS, and the findings may supply a novel mechanism for the development of PJ polyps. 26997450 2016
CUI: C0032584
Disease: polyps
polyps
0.100 GeneticVariation phenotype BEFREE Limited research on PJS has found that truncating mutations of the serine/threonine kinase 11 (STK11) gene may correlate with early symptoms and a greater number of polyps. 26225618 2015
CUI: C0032584
Disease: polyps
polyps
0.100 GeneticVariation phenotype BEFREE Little is known about the genetic implications of specific STK11 mutations with regard to their role in dysplastic and malignant transformation of GI polyps. 24652667 2014
CUI: C0032584
Disease: polyps
polyps
0.100 AlteredExpression phenotype BEFREE Among these genes, WNT5A, a non-canonical and non-transforming Wnt, is consistently up-regulated in both Lkb1(+/-) mice and human PJS polyps at a high level. 21341271 2011
CUI: C0032584
Disease: polyps
polyps
0.100 GeneticVariation phenotype BEFREE Polyps from two cases with LKB1 mutations revealed moderate-intensity nuclear staining in approximately 20 and 70% of the polyps. 20020146 2010
CUI: C0032584
Disease: polyps
polyps
0.100 AlteredExpression phenotype BEFREE Wnt signaling may be activated in a subset of Peutz-Jeghers syndrome polyps closely correlating to LKB1 expression. 20428811 2010
CUI: C0032584
Disease: polyps
polyps
0.100 Biomarker phenotype BEFREE Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases. 15287029 2004
CUI: C0032584
Disease: polyps
polyps
0.100 Biomarker phenotype BEFREE Total polyp burden in Lkb1(+/-) mice was significantly reduced in a Cox-2(+/-) (53%) and in a Cox-2(-/-) (54%) background. 15480979 2004
CUI: C0032584
Disease: polyps
polyps
0.100 Biomarker phenotype BEFREE Furthermore, these data draw attention to the possible adverse consequences of antitumor drugs that target Hsp90, such as antibiotics related to geldanamycin, which could disrupt LKB1 function and promote the development of polyps and carcinomatous lesions. 14668798 2003
CUI: C0032584
Disease: polyps
polyps
0.100 GeneticVariation phenotype BEFREE No evidence for inactivation of the remaining wild-type Lkb1 allele in Lkb1+/- -associated polyps was observed. 12218179 2002
CUI: C0032584
Disease: polyps
polyps
0.100 Biomarker phenotype BEFREE This study confirms allelic loss at LKB1 in PJS polyps and shows that LOH also occurs in cancers of the colon, breast, and cervix in PJS patients. 10398133 1999
CUI: C0032584
Disease: polyps
polyps
0.100 GeneticVariation phenotype BEFREE This observation and a previous observation that the LKB1 locus is often deleted in PJS polyps suggest that the gene may function as a tumor suppressor. 9605748 1998