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Absence of SMAD9v90m mutation in juvenile polyposis syndrome
  1. Lysanne D C Graafmans1,
  2. Folkert H M Morsink1,
  3. G Johan A Offerhaus1,
  4. Francis M Giardiello2,
  5. Lodewijk A A Brosens1
  1. 1Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands
  2. 2Departments of Medicine Oncology Center, and Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  1. Correspondence to Dr Lodewijk A A Brosens, Department of Pathology, University Medical Center Utrecht (H04-312), Heidelberglaan 100, Utrecht 3584 CX, The Netherlands; l.a.a.brosens{at}

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Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disease characterised by multiple distinct hamartomatous polyps in the gastrointestinal tract and an increased risk of colorectal cancer.1 A germline mutation in SMAD4 or BMPR1A is found in approximately 50%–60% of patients with JPS, suggesting existence of other genes that predispose to JPS.2 ,3 We investigated the recently reported SMAD9v90m mutation in our well-defined and genetically characterised cohort of patients with JPS.

The diagnosis of JPS is based on one of the following clinical criteria: (1) more than three to …

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  • Handling editor Runjan Chetty.

  • Contributors LDCG and FHMM performed the genetic analysis. LAAB designed and supervised the study. LDCG and LAAB drafted the manuscript. FMG and GJAO critically reviewed the manuscript.

  • Competing interests None declared.

  • Ethics approval Johns Hopkins IRB.

  • Provenance and peer review Not commissioned; externally peer reviewed.