Advance in genetics research on Gastrointestinal polyposis syndromes.
10.3760/cma.j.cn511374-20241116-00594
- Author:
Xuguo JIAO
1
,
2
;
Xiaolu LI
;
Lingli QI
;
Libo WANG
Author Information
1. Department of Gastroenterology, Children's Medical Center, the First Hospital of Jilin University, Changchun, Jilin 130021, China. wanglibo75@
2. com.
- Publication Type:English Abstract
- MeSH:
Humans;
Adenomatous Polyposis Coli/genetics*;
Smad4 Protein/genetics*;
Peutz-Jeghers Syndrome/genetics*;
PTEN Phosphohydrolase/genetics*;
Bone Morphogenetic Protein Receptors, Type I/genetics*;
Intestinal Polyposis/congenital*;
Intercellular Signaling Peptides and Proteins/genetics*;
Adenomatous Polyposis Coli Protein/genetics*;
Protein Serine-Threonine Kinases/genetics*;
AMP-Activated Protein Kinase Kinases;
Neoplastic Syndromes, Hereditary
- 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 advances in genetic research on Gastrointestinal polyposis syndromes to enhance clinicians' understanding of these diseases and improve their diagnostic and therapeutic approaches.
