Interpretation 96
Tier 3|
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Primary Sites
Tumor Types
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.
Citations
- Frayling et al The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc. Natl. Acad. Sci. USA Vol. 95, pp. 10722–10727.
- Cameselle-Teijeiro et al. Somatic but not germline mutation of the APC gene in a case of cribriform-morular variant of papillary thyroid carcinoma. American journal of clinical pathology 115.4 (2001): 486-493
Last updated: 2017-08-24 22:00:52 UTC