Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background

Lior Haim Katz*, Rachel Gingold-Belfer, Elez Vainer, Shani Hegger, Ido Laish, Estela Derazne, Ilana Weintraub, Gili Reznick-Levi, Yael Goldberg, Zohar Levi, Shlomi Cohen, Elizabeth E. Half

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Abstract: Juvenile polyposis syndrome (JPS), has diverse phenotypes. Aim: To assess mutation rate, clinical features and genotype-phenotype correlation among Israeli JPS kindreds from different ethnicities. Methods: Patients’ data were extracted retrospectively from 5 centers. Results: Thirty 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). Conclusions: We 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.

Original languageEnglish
Article number2
JournalHereditary Cancer in Clinical Practice
Issue number1
StatePublished - Dec 2022


  • Ethnic groups
  • Juvenile polyposis syndrome
  • Phenotype


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