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APC E1317Q
GeneAPC
Variantmissense
Amino Acid ChangeE1317Q
Transcript ID (GRCh37/hg19)ENST00000457016
Codon1317
Exon16
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 3
APC
Variants
APC E1317Q
Primary Sites
Colon
Stomach
Thyroid
Rectum
Tumor Types
Adenocarcinoma
Carcinoma
Interpretation

Familial adenomatous polyposis (FAP) is a disease with autosomal-dominant inheritance that predisposes to carcinoma of the colorectum, stomach, duodenum, and thyroid. There is increasing evidence that germline variants in APC (E1317Q) predispose to the development of multiple colorectal adenomas and carcinoma.

Last updated: 2015-12-09 20:11:10 UTC
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Tier 3
APC
Variants
APC E1317Q
APC codon(s) 1307 frameshift
Primary Sites
Thyroid
Tumor Types
Papillary Carcinoma
Interpretation

Germline APC mutations are characteristically associated with Familial Adenomatous Polyposis (FAP) that predisposes to carcinomas of the colo-rectum, stomach, duodenum, and thyroid. Recently somatic mutations in exon 15 of APC gene have been described in certain sporadic papillary thyroid carcinomas. The prognostic impact of these mutations remains unknown in such settings.

Last updated: 2017-08-24 22:00:52 UTC
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Tier 3
APC
Variants
APC E1317Q
APC codon(s) 1307 frameshift
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Adenocarcinoma
Interpretation

APC mutations have been reported in lung squamous cell carcinoma and small-cell lung carcinoma, but rarely in lung adenocarcinoma. However, variants in the APC gene have not been well characterized in lung adenocarcinoma and their clinical significance is unclear. According to ClinVar, this particular variant is a likely benign germline variant (https://preview.ncbi.nlm.nih.gov/clinvar/variation/829/).

Last updated: 2019-02-22 18:05:35 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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