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RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps
Author(s) -
Herwaarden Yasmijn J,
Koggel Lieke M,
Simmer Femke,
VinkBörger Elisa M.,
Dura Polat,
Meijer Gerrit A,
Nagengast Fokko M,
Hoogerbrugge Nicoline,
Bisseling Tanya M,
Nagtegaal Iris D
Publication year - 2021
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.14286
Subject(s) - germline mutation , mutyh , frameshift mutation , sanger sequencing , hyperplastic polyp , genetics , mutation , medicine , cancer , biology , colorectal cancer , cancer research , gene , colonoscopy
RNF43 is suggested to be involved in the serrated pathway towards colorectal cancer and encodes a transmembrane Ring-type E3 ubiquitin ligase that negatively regulates the Wnt pathway. This study aimed to elucidate the role of RNF43 gene variants in serrated polyposis syndrome (SPS) and serrated polyps.