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APC R1114*
GeneAPC
Variantnonsense
Amino Acid ChangeR1114*
Transcript ID (GRCh37/hg19)ENST00000457016
Codon1114
Exon16
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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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.

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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