ArticleHereditary cancer in clinical practice2022
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.
Article in Hereditary cancer in clinical practice, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 4 citations in OpenAlex.
- Clinical and genetic features of pediatric hereditary polyposis syndromes in Israel: A nationwide multicenter cohort.Journal of pediatric gastroenterology and nutrition · 2026Article
- Mapping Genetic Modifiers of Polyp Formation inCells · 2026Article
- Hereditary Gastrointestinal Tumor Syndromes: When Risk Comes with Your Genes.Current issues in molecular biology · 2024Review
- Studying the Effect of the Host Genetic Background of Juvenile Polyposis Development Using Collaborative Cross andInternational journal of molecular sciences · 2024Article
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12 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Juvenile polyposis syndrome (JPS), has diverse phenotypes.
aimTo assess mutation rate, clinical features and genotype-phenotype correlation among Israeli JPS kindreds from different ethnicities.
methodsPatients' data were extracted retrospectively from 5 centers.
resultsThirty five kindreds (49 patients) were included. Thirty one (89%) Jewish [10 (32%) Ashkenazi; 9 (29%) Sephardi; 11 (35%) non-Russia former Soviet-Union countries (NRFSU), one (3%) unknown]. 40/49 individuals from 27 families underwent genetic testing. Among them 34, from 21 families (85, 78%, respectively) had a pathogenic mutation: BMPR1A n = 15 (71%), SMAD4 n = 6 families (29%). While no SMAD4 mutation was described among Jewish families from NRFSU, 7 NRFSU families carried a founder mutation comprising a large genomic deletion of BMPR1A. GI involvement was reported in 42 patients (86%): colonic polyps (n = 40, 95%, > 50 polyps n = 14, 35%) and 12 underwent colonic resection. Fourteen patients (34%) had gastric or small bowel involvement (n = 5) and 4\14 underwent gastrectomy due to polyp burden. Families from NRFSU had more gastric involvement (66.7% vs. 22.2%- Sephardic and 20%- Ashkenazi Jews; p = 0.038), with more gastric polyps (p = 0.017).
conclusionsWe demonstrated a high rate of mutation detection in the heterogeneous population of Israel. Patients from NRFSU with BMPR1A mutation had high rate of gastric involvement.
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