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APC K1454E
GeneAPC
Variantmissense
Amino Acid ChangeK1454E
Transcript ID (GRCh37/hg19)ENST00000457016
Codon1454
Exon16
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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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.

Last updated: 2018-03-06 18:03:54 UTC
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Tier 3
APC
Variants
APC K1454E
Primary Sites
Lung
Tumor Types
Adenocarcinoma
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. 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 4% of lung adenocarcinomas, the prognostic and therapeutic implications of which remain to be fully elucidated. APC K1454E lies within the beta-catenin binding and down-regulation region of the Apc protein. K1454E suppresses beta-catenin mediated transcription at a level similar to wild-type Apc in a cell culture assay and therefore, is predicted to have no effect on Apc protein function. This variant has also been reported as a germline variant in prior studies and reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/RCV000200964/) as likely benign.

Last updated: 2019-08-29 17:55:08 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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