PloS one, Vol. 13, Issue 9, Pages e0203845, 2018

PMID: 30256815

Familial adenomatous polyposis (FAP) is an inherited condition arising from genetic defects in the Adenomatous polyposis coli (APC) gene. Carriers with mutations in the APC gene develop polyps in the colon and rectum which if not managed, transition into colon cancer. In this study, we identified a novel germline mutation in the APC gene in members of an FAP-affected (Familial adenomatous polyposis) family.

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  https://pubmed.ncbi.nlm.nih.gov/30256815/