ArticleBritish journal of cancer2015
A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation.
Article in British journal of cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- Genetic Variants in BER Pathway Genes Confer Wilms Tumor Susceptibility: New Insights from an Eight-Center Case-Control Study in Chinese Children.Annals of surgical oncology · 2026Article
- Targeted therapy for Wilms tumor: a bibliometric study of worldwide scientific activity and collaborative networks.Discover oncology · 2025Article
- Article
- Inter-Ethnic Variations in the Clinical, Pathological, and Molecular Characteristics of Wilms Tumor.Cancers · 2024Review
- Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Article
- Genetics of Azoospermia.International journal of molecular sciences · 2021Review
- Research advances in the targeted therapy and immunotherapy of Wilms tumor: a narrative review.Translational cancer research · 2021Review
- Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.Human genetics · 2021Review
- MYCN gene polymorphisms and Wilms tumor susceptibility in Chinese children.Journal of clinical laboratory analysis · 2019Article
- [Research progress on uniparental disomy in cancer].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Review
- The genetic changes of Wilms tumour.Nature reviews. Nephrology · 2019Review
- Combined Genetic and Chromosomal Characterization of Wilms Tumors Identifies Chromosome 12 Gain as a Potential New Marker Predicting a Favorable Outcome.Neoplasia (New York, N.Y.) · 2019Article
- Wilms' Tumor Protein 1 and Enzymatic Oxidation of 5-Methylcytosine in Brain Tumors: Potential Perspectives.Frontiers in cell and developmental biology · 2018Review
- WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.Molecular and cellular biochemistry · 2017Article
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBilateral Wilms tumours (BWTs) occur by germline mutation of various predisposing genes; one of which is WT1 whose abnormality was reported in 17-38% of BWTs in Caucasians, whereas no such studies have been conducted in East-Asians. Carriers with WT1 mutations are increasing because of improved survival.
methodsStatuses of WT1 and IGF2 were examined in 45 BWTs from 31 patients with WT1 sequencing and SNP array-based genomic analyses. The penetrance rates were estimated in WT1-mutant familial Wilms tumours collected from the present and previous studies.
resultsWe detected WT1 abnormalities in 25 (81%) of 31 patients and two families, which were included in the penetrance rate analysis of familial Wilms tumour. Of 35 BWTs from the 25 patients, 31 had small homozygous WT1 mutations and uniparental disomy of IGF2, while 4 had large 11p13 deletions with the retention of 11p heterozygosity. The penetrance rate was 100% if children inherited small WT1 mutations from their fathers, and 67% if inherited the mutations from their mothers, or inherited or had de novo 11p13 deletions irrespective of parental origin (P=0.057).
conclusionsThe high incidence of WT1 abnormalities in Japanese BWTs sharply contrasts with the lower incidence in Caucasian counterparts, and the penetrance rates should be clarified for genetic counselling of survivors with WT1 mutations.
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