Article
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.
The Journal of molecular diagnostics : JMD - 1 Nov 2021
Rofes Paula, González Sara, Navarro Matilde, Moreno-Cabrera José Marcos, Solanes Ares, Darder Esther, Carrasco Estela, Iglesias Sílvia, Salinas Mónica, Gómez Carolina, Velasco Àngela, Tuset Noemí, Varela Mar, Llort Gemma, Ramon Y Cajal Teresa, Grau Èlia, Dueñas Núria, de la Ossa Merlano Napoleón, Matías-Guiu Xavier, Rivera Bárbara, Balmaña Judith, Pineda Marta, Brunet Joan, Capellá Gabriel, Del Valle Jesús, Lázaro Conxi
Abstract excerpt
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome responsible for 1% of colorectal cancers (CRCs). Up to 90% of classic FAPs 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. This study aimed to explore the prevalence of mosaicism in 11 unsolved cases of classic FAP and to...
Topics
- Adenomatous Polyposis Coli
- Adenomatous Polyposis Coli Protein
- Adult
- Aged
- Cohort Studies
- Colorectal Neoplasms
- Female