Article
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.
Clinical and translational gastroenterology - 1 Oct 2019
Toma Claudio, Díaz-Gay Marcos, Soares de Lima Yasmin, Arnau-Collell Coral, Franch-Expósito Sebastià, Muñoz Jenifer, Overs Bronwyn, Bonjoch Laia, Carballal Sabela, Ocaña Teresa, Cuatrecasas Miriam, Díaz de Bustamante Aránzazu, Castells Antoni, Bujanda Luis, Cubiella Joaquín, Balaguer Francesc, Rodríguez-Alcalde Daniel, Fullerton Janice M, Castellví-Bel Sergi
Abstract excerpt
OBJECTIVES: Serrated polyposis syndrome (SPS) is a complex disorder with a high risk of colorectal cancer for which the germline factors remain largely unknown. Here, we combined whole-exome sequencing (WES) and linkage studies in families with multiple members affected by SPS to identify candidate genes harboring rare variants with higher penetrance effects. METHODS: Thirty-nine affected subjects from 16...
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