ArticleOncotarget2015
Identification of GALNT14 as a novel neuroblastoma predisposition gene.
Article in Oncotarget, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Pharmacologically Targeting Ferroptosis and Cuproptosis in Neuroblastoma.Molecular neurobiology · 2025Review
- The relative contributions of genetic and non-genetic factors to the risk of neuroblastoma.Pediatric investigation · 2025Review
- An SNP Marker Predicts Colorectal Cancer Outcomes with 5-Fluorouracil-Based Adjuvant Chemotherapy Post-Resection.International journal of molecular sciences · 2024Article
- Exploration of glycosyltransferases mutation status in cervical cancer reveals PARP14 as a potential prognostic marker.Glycoconjugate journal · 2023Article
- Bench-to-Bedside Studies of Arginine Deprivation in Cancer.Molecules (Basel, Switzerland) · 2023Review
- Single-cell transcriptome sequencing reveals tumor heterogeneity in family neuroblastoma.Frontiers in immunology · 2023Article
- Article
- Tenofovir Hampers the Efficacy of Sorafenib in Prolonging Overall Survival in Hepatocellular Carcinoma.Biomedicines · 2021Article
- Mucin-Type O-GalNAc Glycosylation in Health and Disease.Advances in experimental medicine and biology · 2021Article
- O-glycan initiation directs distinct biological pathways and controls epithelial differentiation.EMBO reports · 2020Article
- Connectivity map-based drug repositioning of bortezomib to reverse the metastatic effect of GALNT14 in lung cancer.Oncogene · 2020Article
- Candidate genes for predicting the survival of patients with gastric cancer: a study based on The Cancer Genome Atlas (TCGA) database.Translational cancer research · 2020Article
- GALNT14: An Emerging Marker Capable of Predicting Therapeutic Outcomes in Multiple Cancers.International journal of molecular sciences · 2020Review
- Genetic Predisposition to Solid Pediatric Cancers.Frontiers in oncology · 2020Review
- Genomic Analysis Identifies New Loci Associated With Motor Complications in Parkinson's Disease.Frontiers in neurology · 2020Article
- Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.Molecular genetics & genomic medicine · 2019Article
- Genetic susceptibility to neuroblastoma: current knowledge and future directions.Cell and tissue research · 2018Review
- Cell death-based treatment of neuroblastoma.Cell death & disease · 2018Review
- Prognostic Stratification of Advanced Gastric Signet Ring Cell Carcinoma by Clinicopathological Factors andJournal of Cancer · 2018Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although several genes have been associated to neuroblastoma (NB) predisposition and aggressiveness, further genes are likely involved in the overall risk of developing this pediatric cancer. We thus carried out whole-exome sequencing on germline DNA from two affected second cousins and two unlinked healthy relatives from a large family with hereditary NB. Bioinformatics analysis revealed 6999 variations that were exclusively shared by the two familial NB cases. We then considered for further analysis all unknown or rare missense mutations, which involved 30 genes. Validation and analysis of these variants led to identify a GALNT14 mutation (c.802C > T) that properly segregated in the family and was predicted as functionally damaging by PolyPhen2 and SIFT. Screening of 8 additional NB families and 167 sporadic cases revealed this GALNT14 mutation in the tumors of two twins and in the germline of one sporadic NB patient. Moreover, a significant association between MYCN amplification and GALNT14 expression was observed in both NB patients and cell lines. Also, GALNT14 higher expression is associated with a worse OS in a public dataset of 88 NB samples (http://r2.amc.nl). GALNT14 is a member of the polypeptide N-acetylgalactosaminyl-transferase family and maps closely to ALK on 2p23.1, a region we previously discovered in linkage with NB in the family here considered. The aberrant function of GALNTs can result in altered glycoproteins that have been associated to the promotion of tumor aggressiveness in various cancers. Although rare, the recurrence of this mutation suggests GALNT14 as a novel gene potentially involved in NB predisposition.
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