Paired somatic-germline testing of 15 polyposis and colorectal cancer –predisposing genes highlights the role of APC mosaicism in de novo familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome responsible for 1% of colorectal cancers. Up to 90% of classical FAP are caused by inactivating mutations in APC, and mosaicism has been previously reported in 20% of de novo cases, usually linked to milder phenotypic manifestations. To explore the prevalence of mosaicism in 11 unsolved cases of classical FAP and to evaluate the diagnostic yield of somatic testing. Paired samples of colorectal polyps, tumors and/or mucosa were analyzed using a custom NGS panel targeting 15 polyposis and colorectal cancer-predisposing genes.

Source: Journal of Molecular Diagnostics - August 25, 2021 Category: Pathology Authors: Paula Rofes, Sara Gonz ález, Matilde Navarro, José Marcos Moreno-Cabrera, Ares Solanes, Esther Darder, Estela Carrasco, Sílvia Iglesias, Mónica Salinas, Carolina Gómez, Àngela Velasco, Noemí Tuset, Mar Varela, Gemma Llort, Teresa Ramon y Cajal, Èl Tags: Regular Article Source Type: research