Advance in genetics research on Gastrointestinal polyposis syndromes

VernacularTitle:消化道息肉综合征的遗传学研究进展
Author: Xuguo JIAO ¹ ; Xiaolu LI ¹ ; Lingli QI ¹ ; Libo WANG ¹
Author Information

1. 吉林大学第一医院儿童医院小儿消化科，长春　130021
Publication Type:Journal Article
Keywords: Gastrointestinal polyposis syndromes; Gene variants; Signal pathway; Genetics
From: Chinese Journal of Medical Genetics 2025;42(5):633-638
CountryChina
Language:Chinese
Abstract: Gastrointestinal polyposis syndromes are primarily characterized by multiple polyps in the gastrointestinal tract, with their pathogenic mechanisms largely related to genetic factors and involving multiple signaling pathways. Adenomatous polyposis syndromes are mainly associated with APC gene variants, while some cases may arise from MUTYH gene variants. Peutz-Jeghers syndrome is primarily linked to STK11 gene variants. Juvenile polyposis syndrome is mainly associated with variants in the SMAD4 and BMPR1A genes. PTEN hamartoma tumor syndrome is predominantly caused by PTEN gene variants. Hereditary mixed polyposis syndrome is primarily related to variants of the GREM1 and BMPR1A genes. This article systematically summarizes the advance in genetics research on Gastrointestinal polyposis syndromes to enhance clinicians′ understanding of these diseases and improve their diagnostic and therapeutic approaches.