Neuroendocrine Tumor of the Pancreas as a Unique Manifestation of Cowden Syndrome: a Case Report.
Bethesda, United States. In J Clin Endocrinol Metab, Jan 2016
The germline DNA sequencing confirmed the clinical diagnosis of CS and revealed a PTEN mutation c.697C→T (p.R233*) causing a premature stop codon in exon 7. The tumor DNA sequencing showed no LOH or any copy number changes, and no other deleterious genetic alterations including those commonly mutated in sporadic pancreatic NETs; MEN1, ATRX, DAXX, TP53, and genes involved in the mTOR pathway.
Activation of endogenous antioxidants as a common therapeutic strategy against cancer, neurodegeneration and cardiovascular diseases: A lesson learnt from DJ-1.
Kao-hsiung, Taiwan. In Pharmacol Ther, Dec 2015
Interestingly, the mechanistic targets of DJ-1 as an antioxidant, including Daxx, Nrf2, thioredoxin, glutathione, α-synuclein, PTEN/PI3K/Akt, and Pink/Parkin are also associated with those oxidative stress-related diseases.
TERT promoter mutations are a rare event in gastrointestinal stromal tumors.
Tokyo, Japan. In Springerplus, 2014
Irregular telomerase activation can be maintained by TERT hot spot alterations and alternative lengthening of telomeres (ALT) characterized by inactivation of either the alpha-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated protein (DAXX).
Integrated genomic characterization of adrenocortical carcinoma.
Paris, France. In Nat Genet, 2014
We performed exome sequencing and SNP array analysis of 45 ACCs and identified recurrent alterations in known driver genes (CTNNB1, TP53, CDKN2A, RB1 and MEN1) and in genes not previously reported in ACC (ZNRF3, DAXX, TERT and MED12), which we validated in an independent cohort of 77 ACCs.
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Montréal, Canada. In Nature, 2012
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.