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CTNNB1
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Interpretation 2126
Tier 2
CTNNB1
Variants
CTNNB1 G34E
Primary Sites
Pancreas
Tumor Types
Acinar Cell Carcinoma
Interpretation

Beta catenin is a transcriptional co-regulator and an adapter protein for cellular adhesion; it comprises part of the Wnt signaling pathway and intracellular levels of beta-catenin are regulated by its phosphorylation, ubiquitination and proteosomal degradation. Accumulation of nuclear beta catenin can lead to a tumoral phenotype and oncogenic transformation in a variety of solid tumors. Various oncogenic mutants of beta catenin have been found in different tumor types which alter its degradation, leading to its accumulation and promoting tumor growth. Alterations in genes coding for members of the APC/b (beta)-catenin pathway have been identified in 20--25% of acinar cell carcinomas. These included inactivating mutations in APC as well as activating mutations in CTNNB1. CTNNB1 alterations have been identified in approximately 9% of pancreatic acinar cell carcinomas. CTNNB1 G34E is a rare mutation and does not lie within any known functional domains of the CTNNB1 protein. One study has shown that this mutation results in resistance to degradation, leading to increased pathway activation. Preclinical studies in CTNNB1 mutated solid tumors are underway. The full clinicopathological significance of CTNNB1 G34E remains to be further elucidated in pancreatic acinar cell carcinoma.

Citations
  1. Ganesan K, et al. Inhibition of gastric cancer invasion and metastasis by PLA2G2A, a novel beta-catenin/TCF target gene. Cancer Res. 2008 Jun 1;68(11):4277-86.
  2. Zhang Q, et al. The Wnt/b-catenin signaling pathway mechanism for pancreatic cancer chemoresistance in a three-dimensional cancer microenvironment. Am J Transl Res. 2016 Oct 15;8(10):4490-4498.
  3. Abraham SC, et al. Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent allelic loss on chromosome 11p and alterations in the APC/beta-catenin pathway. Am J Pathol. 2002;160:953--962
Last updated: 2018-03-06 17:58:36 UTC
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