Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome

Serrated polyposis syndrome (SPS) is one of the most frequent polyposis syndromes characterized by an increased risk for developing colorectal cancer (CRC). Although SPS etiology has been mainly associated with environmental factors, germline predisposition to SPS could also be relevant for cases wi...

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Bibliographic Details
Main Authors: Laia Bonjoch, Yasmin Soares de Lima, Marcos Díaz-Gay, Isabella Dotti, Jenifer Muñoz, Leticia Moreira, Sabela Carballal, Teresa Ocaña, Miriam Cuatrecasas, Oswaldo Ortiz, Antoni Castells, Maria Pellisé, Francesc Balaguer, Azucena Salas, Ludmil B. Alexandrov, Sergi Castellví-Bel
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Molecular Biosciences
Subjects:
serrated polyposis syndrome
POLD1
genetic predisposition to disease
gene editing
functional genomics
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1119900/full

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https://www.frontiersin.org/articles/10.3389/fmolb.2023.1119900/full

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