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  • Open Access

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

  • Andrzej Plawski1,
  • Paweł Boruń1,
  • Tomasz Banasiewicz3,
  • Jacek Paszkowski3,
  • Agnieszka Stembalska7,
  • Maria Sąsiadek7,
  • Monika Siołek2,
  • Beata Kozak - Klonowska2,
  • Izabela Brozek4,
  • Janusz Limon4,
  • Dorota Nowakowska5,
  • Grzegorz Kurzawski6,
  • Tomasz Byrski6,
  • Tomasz Gach9,
  • Diana Hodorowicz-Zaniewska9,
  • Anna Bartkowiak1,
  • Ryszad Slomski1,
  • Elżbieta Czkwianianc10,
  • Krzysztof Linke12,
  • Ewa Grzybowska13,
  • Arleta Lącka-Wojciechowska11,
  • Marek Szwiec14,
  • Sabina Więcek15,
  • Alicja żabka17,
  • Agnieszka Synowiec19,
  • Anna Jakubiuk-Tomaszuk16,
  • Robert Skalski17,
  • Jan Lubinski6,
  • Piotr Krokowicz18,
  • Paweł Blecharz13,
  • Mikołaj Teisseyre8,
  • Michal Drews3 and
  • Wojciech Cichy20
Hereditary Cancer in Clinical Practice201210(Suppl 4):A24

https://doi.org/10.1186/1897-4287-10-S4-A24

Published: 10 December 2012

Keywords

AdenomaMucous MembraneFamilial Adenomatous PolyposisLarge BowelMalignant 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

(1)
Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland
(2)
Genetic Counseling Unit, Holy Cross Cancer Center, Kielce, Poland
(3)
Department of General, Gastroenterological and Endocrinological Surgery, University of the Medical Sciences, Poznan, Poland
(4)
Department of Biology and Genetics, Medical University of Gdańsk, Poland
(5)
Genetic Counseling Unit Cancer Center and Institute of Oncology, Warsaw, Poland
(6)
Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
(7)
Department of Genetics, Medical University Wroclaw, Wroclaw, Poland
(8)
The Children's Memorial Health Institute, Warsaw, Poland
(9)
1st Department of General and GI Surgery, Jagiellonian University, Cracov, Poland
(10)
Department of Pediatrics and Gastroenterology, Institute of Polish Mother’s Memorial Hospital, Lodz, Poland
(11)
International Oncotherapy Centre, Koszalin, Poland
(12)
Department of Gastroenterology Human Nutrition and Internal Diseases, K.Marcinkowski University School of Medical Sciences, Poznan, Poland
(13)
Department of Tumor Biology, Centre of Oncology, Maria Sklodowska-Curie Memorial Institute, Gliwice, Poland
(14)
Regional Oncology Center, Opole, Poland
(15)
Upper- Silesia Child Health Center Katowice, Poland
(16)
Medical University of Bialystok, Poland
(17)
University of the Medical Sciences, Katowice, Poland
(18)
Department of Surgery University of the Medical Sciences, Poznan, Poland
(19)
MilitaryHospital, Warszawa, Poland
(20)
Department of Pediatrics University of the Medical Sciences, Poznan, Poland

Copyright

© 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 (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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