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