An AXIN2 Mutant Allele Associated With Predisposition to Colorectal Neoplasia Has Context-Dependent Effects on AXIN2 Protein Function
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چکیده
منابع مشابه
An AXIN2 Mutant Allele Associated With Predisposition to Colorectal Neoplasia Has Context-Dependent Effects on AXIN2 Protein Function1
Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation. Somatic AXIN2 mutations predicted to generate truncated AXIN2 (trAXIN2) proteins have been reported in some CRCs. Our studies of cells from an AXIN2 1989G>A mutation carrier showed that the mutant transcripts are ...
متن کاملAXIN2 is Associated With Papillary Thyroid Carcinoma
BACKGROUND Findings of recent studies have demonstrated a rapid increase of the incidence of papillary thyroid carcinoma (PTC), which accounts for nearly 80% of thyroid cancers. OBJECTIVES The aim of this study was to explore the association between AXIN2 gene polymorphism and papillary thyroid carcinoma (PTC). PATIENTS AND METHODS 106 blood samples (56 PTC patients and 50 healthy controls)...
متن کاملAXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. This novel mutation predicts p.Trp663X, which is a truncated protein that ...
متن کاملExpression Pattern of Axin2 During Chicken Development
Canonical Wnt-signalling is well understood and has been extensively described in many developmental processes. The regulation of this signalling pathway is of outstanding relevance for proper development of the vertebrate and invertebrate embryo. Axin2 provides a negative-feedback-loop in the canonical Wnt-pathway, being a target gene and a negative regulator. Here we provide a detailed analys...
متن کاملMutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at...
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ژورنال
عنوان ژورنال: Neoplasia
سال: 2015
ISSN: 1476-5586
DOI: 10.1016/j.neo.2015.04.006