{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Gallanis AF"],"funding":["Intramural NIH HHS","Intramural Research Program (IRP)","NCI NIH HHS","Intramural Research Program"],"pagination":["699-709"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12324967"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(8)"],"pubmed_abstract":["Germline CDH1 loss-of-function mutations are causally linked to an increased lifetime risk of diffuse gastric cancer (DGC). Early, multifocal signet ring cell (SRC) lesions are ubiquitous among CDH1 variant carriers, yet only a subset of patients will develop advanced DGC. A multiomic analysis was performed to establish the molecular phenotype of early SRC lesions and how they differ from advanced DGC using 20 samples from human total gastrectomy specimens of germline CDH1 variant carriers. Spatial transcriptomic analysis demonstrated reduced CDH1 gene expression and increased expression of extracellular matrix remodeling in SRC lesions compared with unaffected adjacent gastric epithelium. Single-cell RNA sequencing revealed an SRC-enriched signature with markers REG1A, VIM, AQP5, PRR4, MU"],"journal":["Molecular cancer research : MCR"],"pubmed_title":["Spatial Analysis of Hereditary Diffuse Gastric Cancer Reveals Indolent Phenotype of Signet Ring Cell Precursors."],"pmcid":["PMC12324967"],"funding_grant_id":["75N91019D00024","ZID BC012159"],"pubmed_authors":["Kedei N","Gamble LA","Tillo D","Bowden C","McClelland P","Heller T","Hernandez JM","Miettinen M","Kim SA","Gullo I","Oguz C","Green BL","Raffeld M","Lack J","Blakely AM","Xi L","Hernandez MO","Gallanis AF","Samaranayake SG","Wong M","Quezado M","Davis JL","Kelly M"],"additional_accession":[]},"is_claimable":false,"name":"Spatial Analysis of Hereditary Diffuse Gastric Cancer Reveals Indolent Phenotype of Signet Ring Cell Precursors.","description":"Germline CDH1 loss-of-function mutations are causally linked to an increased lifetime risk of diffuse gastric cancer (DGC). Early, multifocal signet ring cell (SRC) lesions are ubiquitous among CDH1 variant carriers, yet only a subset of patients will develop advanced DGC. A multiomic analysis was performed to establish the molecular phenotype of early SRC lesions and how they differ from advanced DGC using 20 samples from human total gastrectomy specimens of germline CDH1 variant carriers. Spatial transcriptomic analysis demonstrated reduced CDH1 gene expression and increased expression of extracellular matrix remodeling in SRC lesions compared with unaffected adjacent gastric epithelium. Single-cell RNA sequencing revealed an SRC-enriched signature with markers REG1A, VIM, AQP5, PRR4, MU","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-07-15T14:36:30.922Z","creation":"2026-07-06T03:08:36.461Z"},"accession":"S-EPMC12324967","cross_references":{"pubmed":["40192595"],"doi":["10.1158/1541-7786.MCR-24-1039","10.1158/1541-7786.mcr-24-1039"]}}