Table 1 Baseline characteristics of the cohort
From: Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
Characteristics | N (%/range) |
|---|---|
Number of patients | 49 |
Number of families | 35 |
Median follow-up period (range) | 5 y (< 1 to 49) |
Sex – female | 19 (38.8) |
Median age of diagnosis (range) | 13 y (2–68 y) |
Ethnicity – Jewish families | 31 (89) |
- Ashkenazi/Sephardi/NRFSU/Unknown | 10 (32)/ 9 (29)/ 11 (35)/ 1 (3) |
Family history of GI cancer – families | 6 (17) |
Performance of genetic testing – families | 27 (77) |
Genetic diagnosis among tested families | 21 (78) |
BMPR1A mutation diagnosed among genetic diagnosed families | 15 (71) |
- “Bukharin mutation” among BMPR1A mutation carriers | 7 (47) |
SMAD4 mutation diagnosed among genetic diagnosed families | 6 (29) |
- HHT symptoms among SMAD4 families | 5 (83) |
Presenting symptom (symptomatic patients only) – rectal bleeding | 22 (88) |
Presenting symptom (symptomatic patients only) – abdominal pain | 5 (20) |