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Interpretation 94
Tier 2
APC
Variants
APC codon(s) 1464 frameshift
APC Q1338*
APC R1114*
APC codon(s) 1556 frameshift
APC R876*
APC codon(s) 1465 frameshift
APC codon(s) 1307 frameshift
APC Q1429*
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

Somatic APC mutations are common events in colorectal adenocarcinomas, reported in up to 76% of the cases. Loss of normal APC function is known to be an early event in both familial and sporadic colon cancer pathogenesis, occurring at the pre-adenoma stage. APC mutations do not significantly affect the prognosis of colorectal cancer patients. While there are a number of small molecule inhibitors in development that target the Wnt pathway, there is currently no matched targeted therapy available for colorectal cancer patients harboring an APC mutation.

Citations
  1. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487(7407):330-7
  2. Han SW, et al. Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing. PLoS One 2013;8(5):e64271
  3. Prall F, et al. Phenotypes of invasion in sporadic colorectal carcinomas related to aberrations of the adenomatous polyposis coli (APC ) gene. Histopathology 2007;50(3):318-30
  4. Kim JT, et al. Deregulation of Wnt/b-catenin signaling through genetic or epigenetic alterations in human neuroendocrine tumors. Carcinogenesis 2013;34(5):953-61
  5. Vasovcak P, et al. Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients. PLoS One 2011;6(8):e24114
  6. Thirlwell C, et al. Clonality assessment and clonal ordering of individual neoplastic crypts shows polyclonality of colorectal adenomas. Gastroenterology 2010;138(4):1441-54, 1454.e1-7
Last updated: 2017-03-15 21:14:46 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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