Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1
Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.
Fang Y et al.
Clinical Genetics, 2025
Three patients with new mutations in the EPCAM variant gene for congenital tufting enteropathy and a mutation review in China: a case report.
Wang SN et al.
Translational Pediatrics, 2024
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf
Cancer-associated mutations reveal a novel role for EpCAM as an inhibitor of cathepsin-L and tumor cell invasion.
Sankpal NV et al.
Bmc Cancer, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
Mizukami K et al.
Ebiomedicine, 2020
32980694 (PubMed )
Supplement: mmc1.pdf
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ et al.
Human Mutation, 2019
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.
Tang W et al.
Journal of Clinical Gastroenterology, 2018
Absence of cell-surface EpCAM in congenital tufting enteropathy.
Schnell U et al.
Human Molecular Genetics, 2013
Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation.
Sivagnanam M et al.
Case Reports in Medicine, 2012
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