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Interpretation 2139
Tier 3
APC
Variants
APC K1454E
Primary Sites
Breast
Tumor Types
Invasive Ductal Carcinoma
Lobular Carcinoma
Interpretation

The APC gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. APC promotes rapid degradation of beta-catenin and participates in Wnt signaling as a negative regulator. APC is also involved in other processes including cell migration, cell adhesion, transcriptional activation and apoptosis. Germline defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Somatic mutations in APC have been reported in around 2% of breast carcinomas. One study found that APC mutations in up to 18% of their breast cancer cohort and at a significantly high frequency in advanced stages of primary breast cancers. The APC K1454E variant has not been previously reported in breast carcinoma. The significance of this variant should be interpreted within the clinical context.

Citations
  1. Boman BM, et al. An APC:WNT Counter-Current-Like Mechanism Regulates Cell Division Along the Human Colonic Crypt Axis: A Mechanism That Explains How APC Mutations Induce Proliferative Abnormalities That Drive Colon Cancer Development. Front Oncol 2013;3():244.
  2. Cbioportal.org
  3. Ciriello G et al. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer. Cell. 2015 Oct 8;163(2):506-19.
  4. Furuuchi K et al. Somatic Mutations of the APC Gene in Primary Breast Cancers. The American Journal of Pathology. 2000;156(6):1997-2005.
  5. Narayan S, Roy D. Role of APC and DNA mismatch repair genes in the development of colorectal cancers. Mol Cancer. 2003 Dec 12;2:41. Review.
Last updated: 2018-03-06 18:03:54 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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