Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report
This is the first reported case of GAPPS in Korea, associated with a novel likely pathogenic variant in APC promoter 1B, linked to a significant reduction in gene expression.
Authors
- Chang Ahn Seol (ORCID: https://orcid.org/0000-0001-8470-7633)
- Eunkuk Park (ORCID: https://orcid.org/0000-0002-1928-5531)
- Young Bae Sohn (ORCID: https://orcid.org/0000-0002-4664-1941)
- Seon-Yong Jeong
- Jong Sun Park
- Sun Gyo Lim
- Sae-Mi Lee
- Jongmun Choi
Institutions
- Glycemic Index Laboratories (CA)
- Genome and Company (South Korea) (KR)
- Ajou University Hospital (KR)
- Ajou University (KR)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-02-25
- DOI
- https://doi.org/10.3389/fgene.2026.1695311
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00