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  • Open Access

Mutations spectrum in hereditary disorders predisposing to occurrence of intestine polyposis in Poland

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Hereditary Cancer in Clinical Practice201210 (Suppl 4) :A24

  • Published:


  • Adenoma
  • Mucous Membrane
  • Familial Adenomatous Polyposis
  • Large Bowel
  • Malignant Potential

The term polyp refers to any overgrowth of tissue from the surface of mucous membranes. Intestinal polyps grow out of the lining of the small and large bowels. The polyps that arise as a result of proliferative dysplasia are termed as adenomatous polyps or adenomas. They are true neoplastic lesions and are precursors of carcinoma. The hamartomatous polyps are formed as a result of abnormal mucosal maturation. They are non-neoplastic and do not have malignant potential. There are several hereditary diseases that produce large numbers of intestinal polyps. These disorders include: familial adenomatous polyposis of the colon (MIM 175100), familial adenomatous polyposis type 2(MIM 608456), Lynch's syndrome (MIM 120435), Peutz-Jeghers syndrome (MIM 175200), Juvenile polyposis syndrome (MIM 174900) PTEN Hamartoma Tumor Syndrome (PHTS) PHTS Includes: Bannayan-Riley-Ruvalcaba Syndrome (MIM 153480), Cowden Syndrome (MIM 153480), PTEN-Related Proteus Syndrome, Proteus-Like Syndrome. Here we present spectrum of mutation detected in over six hundred Polish families with intestinal polyposis. The studies have encompassed over 30 families with Juvenile polyposis syndrome and PHTS, over 40 families with Peutz-Jeghers syndrome and almost 600 families with familial adenomatous polyposis of the colon. The study was in part financed by the Ministry of Education and Science, Poland, grant number N402 481537, N401 331936.

Authors’ Affiliations

Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland
Genetic Counseling Unit, Holy Cross Cancer Center, Kielce, Poland
Department of General, Gastroenterological and Endocrinological Surgery, University of the Medical Sciences, Poznan, Poland
Department of Biology and Genetics, Medical University of Gdańsk, Poland
Genetic Counseling Unit Cancer Center and Institute of Oncology, Warsaw, Poland
Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
Department of Genetics, Medical University Wroclaw, Wroclaw, Poland
The Children's Memorial Health Institute, Warsaw, Poland
1st Department of General and GI Surgery, Jagiellonian University, Cracov, Poland
Department of Pediatrics and Gastroenterology, Institute of Polish Mother’s Memorial Hospital, Lodz, Poland
International Oncotherapy Centre, Koszalin, Poland
Department of Gastroenterology Human Nutrition and Internal Diseases, K.Marcinkowski University School of Medical Sciences, Poznan, Poland
Department of Tumor Biology, Centre of Oncology, Maria Sklodowska-Curie Memorial Institute, Gliwice, Poland
Regional Oncology Center, Opole, Poland
Upper- Silesia Child Health Center Katowice, Poland
Medical University of Bialystok, Poland
University of the Medical Sciences, Katowice, Poland
Department of Surgery University of the Medical Sciences, Poznan, Poland
MilitaryHospital, Warszawa, Poland
Department of Pediatrics University of the Medical Sciences, Poznan, Poland


© Plawski et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.