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No TGFBRII germline mutations in juvenile polyposis patients without SMAD4 or BMPR1A mutation
  1. L A A Brosens1,
  2. W A van Hattem1,2,
  3. M C E Kools1,
  4. C Ezendam1,
  5. F H Morsink1,
  6. W W J de Leng1,
  7. F M Giardiello3,
  8. G J A Offerhaus1,2,4
  1. 1
    Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands
  2. 2
    Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands
  3. 3
    Department of Medicine, Division of Gastroenterology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  4. 4
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  1. Dr L A A Brosens, Department of Pathology (H04-312), University Medical Center Utrecht, Postbox 85500, 3508 GA Utrecht, The Netherlands; L.A.A.Brosens{at}umcutrecht.nl

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Juvenile polyposis (JPS) is an autosomal dominant disorder characterised by the presence of multiple gastro-intestinal juvenile polyps and an increased risk of colorectal cancer (CRC).1 JPS is caused by germline mutation of SMAD4 or BMPR1A, both involved in the transforming growth factor β/bone morphogenic protein (TGFβ/BMP) signalling pathway. A recent study by van Hattem et al, published in this journal (Gut 2008;57:623–7), showed that a germline defect in one of these genes is found in approximately 50% of JPS patients, with 30–40% being a point mutation or small deletion and 10–15% a large genomic deletion. Since no germline defect is found in ∼50% of JPS patients, it is likely that other genes exist which cause JPS.2

Several candidate genes, mostly involved in TGFβ/BMP signalling, have been investigated for a role in JPS pathogenesis. No mutations have been found in these genes.36 (table 1) Recently, the TGFβ co-receptor endoglin was proposed as a JPS susceptibility gene, but other studies could …

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