International Journal of Colorectal Disease

, Volume 24, Issue 10, pp 1141–1148 | Cite as

Analysis of mutations in TP53, APC, K-ras, and DCC genes in the non-dysplastic mucosa of patients with inflammatory bowel disease

  • Davy Carlos Mendes Rapozo
  • Ana Braunstein Grinmann
  • Ana Teresa Pugas CarvalhoEmail author
  • Heitor Siffert P. de Souza
  • Sheila Coelho Soares-Lima
  • Tatiana de Almeida Simão
  • Daurita de Paiva
  • Flávio Abby
  • Rodolpho Mattos Albano
  • Luiz Felipe Ribeiro Pinto
Original Article


Background and aims

Patients with ulcerative colitis (UC) and Crohn's disease (CD) have a high risk for colorectal cancer (CRC). To understand the molecular basis of colitis-associated CRC, we analyzed alterations in TP53, APC, K-ras, and DCC genes in the non-dysplastic UC and CD colon.

Materials and methods

Endoscopic biopsies were collected from six predefined colon sites of 35 UC and 12 CD patients for DNA extraction and genetic analysis.


A mutation was found in codon 1141 of the APC gene of two CD patients, being somatic in one and germinative in the other. The mutation seen in both patients was a base exchange of thymine for cytosine, resulting in an exchange of leucine for serine. We did not detect any mutations in the other samples analyzed.


Mutations in APC gene may occur in the non-dysplastic CD mucosa of patients with disease for more than 10 years. The follow-up of these patients will show the likelihood of mutant APC progressing to CRC in CD. Further analysis will be required for evaluating the impact of these findings in the context of cancer surveillance in inflammatory bowel disease.


Ulcerative colitis Crohn's disease TP53 APC K-ras Non-dysplastic mucosa 



This work was supported by funds from Fundação de Amparo a Pesquisa do Estado do Rio de Janeiro, FAPERJ, and “Conselho Nacional de Desenvolvimento Científico e Tecnológico, CNPq, Brazil.


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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Davy Carlos Mendes Rapozo
    • 1
  • Ana Braunstein Grinmann
    • 2
  • Ana Teresa Pugas Carvalho
    • 2
    • 5
    Email author
  • Heitor Siffert P. de Souza
    • 3
  • Sheila Coelho Soares-Lima
    • 1
  • Tatiana de Almeida Simão
    • 1
  • Daurita de Paiva
    • 4
  • Flávio Abby
    • 2
  • Rodolpho Mattos Albano
    • 1
  • Luiz Felipe Ribeiro Pinto
    • 1
  1. 1.Departamento de Bioquímica, Instituto de BiologiaUniversidade do Estado do Rio de JaneiroRio de JaneiroBrazil
  2. 2.Disciplina de Gastroenterologia, Departamento de Medicina Interna, Faculdade de Ciências MédicasUniversidade do Estado do Rio de JaneiroRio de JaneiroBrazil
  3. 3.Departamento de Clínica Médica, Hospital Universitário Clementino Fraga FilhoUniversidade Federal do Rio de JaneiroRio de JaneiroBrazil
  4. 4.Disciplina de Anatomia Patológica, Departamento de Patologia e Laboratórios, Faculdade de Ciências MédicasUniversidade do Estado do Rio de JaneiroRio de JaneiroBrazil
  5. 5.Rio de JaneiroBrazil

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