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11 December 2020: Articles

Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report

Unusual clinical course

Diane R. Koeller * , Alison Schwartz * , Danielle K. Manning B , Fei Dong B , Neal I. Lindeman D , Judy E. Garber D , Arezou A. Ghazani A*

DOI: 10.12659/AJCR.927293

Am J Case Rep 2020; 21:e927293

Figure 1. Pedigree of a family with the APC p. S2627Gfs variant. The pedigree depicts the affected individuals with cancer, cancer types, and genes with pathogenic variants. Circles and squares denote the female and male family members, respectively. Filled quadrants denote the affected conditions, and the arrow indicates the proband. CA? – possible cancer; CML – chronic myeloid leukemia; CO polyp-A – colorectal polyp adenoma; CO polyp-U – colorectal polyp type unknown; LG – lung cancer; PAN – pancreatic cancer; RCC – renal cell carcinoma.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923