CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3838965
Disease: Microcystic stromal tumor
Microcystic stromal tumor
0.060 Biomarker disease BEFREE We report four ovarian neoplasms in patients aged 45, 56, 61 and 71 years with the characteristic immunophenotype of microcystic stromal tumour (diffuse nuclear positivity with beta-catenin, cyclin D1 and WT1; diffuse cytoplasmic positivity with CD10; negative inhibin, calretinin, oestrogen receptor and progesterone receptor). 30325056 2019
CUI: C3838965
Disease: Microcystic stromal tumor
Microcystic stromal tumor
0.060 GeneticVariation disease BEFREE We demonstrated a previously reported CTNNB1 point-mutation using pyrosequencing and a novel deletion mutation in ovarian MCSTs. 28551672 2017
CUI: C3838965
Disease: Microcystic stromal tumor
Microcystic stromal tumor
0.060 GeneticVariation disease BEFREE Microcystic stromal tumour of the ovary: frequent mutations of β-catenin (CTNNB1) in six cases. 25913412 2015
CUI: C3838965
Disease: Microcystic stromal tumor
Microcystic stromal tumor
0.060 GeneticVariation disease BEFREE We report a very unusual case of a microcystic stromal tumor of the ovary with a mutation in exon 3 of the β-catenin (CTNNB1) gene. 25675179 2015
CUI: C3838965
Disease: Microcystic stromal tumor
Microcystic stromal tumor
0.060 Biomarker disease BEFREE Since our first description of the microcystic stromal tumor (MST) of the ovary, a rare and distinctive neoplasm with a definitional, usually striking microcystic pattern and a CD10+/vimentin+/inhibin-/calretinin- immunophenotype, 3 examples with β-catenin nuclear localization, and CTNNB1 mutation have been reported. 26200099 2015
CUI: C3838965
Disease: Microcystic stromal tumor
Microcystic stromal tumor
0.060 Biomarker disease BEFREE The results of this study strongly suggest that dysregulation of the Wnt/β-catenin pathway plays a fundamental role in the pathogenesis of ovarian MCST. 21881488 2011