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Interpretation 2150
Tier 3
APC
Variants
APC I1307K
Primary Sites
Breast
Tumor Types
Invasive Ductal 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. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. Somatic APC mutations have been reported in less than 1% of breast invasive ductal carcinoma. Codon I1307 lies within a regulatory region of the APC protein mediated by ubiquitination. Germline APC I1307K is associated with increased colorectal cancer risk by making the gene unstable and prone to acquire mutations during normal cell division. The germline APC I1307K gene mutation is most commonly found in people of Ashkenazi Jewish descent. Therefore, routine colorectal screening is very important in these individuals. The prognostic and therapeutic implications of APC mutations in breast carcinoma remain to be fully elucidated. Correlation with other clinical and lab findings is recommended

Citations
  1. Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012 Oct 4;490(7418):61-70.
  2. Frayling IM, et al. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci U S A 1998;95(18):10722-7
  3. Zauber P, et al. Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract. PLoS One 2014;9(1):e84498
Last updated: 2018-03-30 16:08:34 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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