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2009 | 81 | 10 | 465-473

Article title

DNA Bank for Polish Patients with a Predisposition for Intestinal Polyposis


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Intestinal polyposis syndromes include a group of diseases conditioned by the occurrence of hereditary mutations. The current paper presents a collection of DNA samples derived from persons from families with a diagnosed adenomatous polyposes which comprise: familial polyposis coli together with its recessive form, Turcot's syndrome, inherited mixed polyposis as well as persons with recognised hamartomatous polyposes: juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome and Proteus syndrome.The aim of the study was to present current achievements associated with the establishment of the DNA Bank for intestinal polyposis.Material and methods. Investigations were conducted on DNA isolated from cells of the peripheral blood. The search for mutations in APC, MUTYH, PTEN, BMPR1A, SMAD4 and STK11 genes preconditioning the occurrence of individual diseases was performed employing PCR-SSCP, PCR-HD, DHPLC as well as RFLP techniques and DNA sequencing.Results. At the present time, the DNA Bank comprises the total of 1097 DNA samples derived from 449 families with intestinal polyposis of which 945 samples come from persons in whose families Familial Adenomatous Polyposis (FAP) occurred. In addition, the collected data also contain material for analyses derived from 25 families with Peutz-Jeghers syndrome and 20 families with juvenile polyposis as well as single cases with the Cowden syndrome, Proteus syndrome and desmoid tumors. The performed molecular investigations allowed identification of mutations ranging from 44 to 50%.Conclusions. With regard to the quantity of the material collected for analyses and the efficacy level of the employed molecular methods, the obtained results are in keeping with the results found in the literature from the field of genetics and medicine and do not differ from world standards. The collection of data and materials for investigations in the case of rare diseases allows qualitative, organisational and economic optimisation of the performed investigations.








Physical description


1 - 10 - 2009
25 - 11 - 2009


  • Institute of Human Genetics, PAS, Poznań
  • Institute of Human Genetics, PAS, Poznań
  • Departments of Pediatric Gastroenterology and Metabolic Diseases, Medical University, Poznań
  • Department of General, Gastroenterological and Endocrinological Surgery, Medical University, Poznań
  • Department of General, and Colorectal Surgery, Medical University, Poznań
  • Institute of Human Genetics, PAS, Poznań


  • Drews M, Banasiewicz T, Krokowicz P i wsp.: Zespoly polipowatości rodzinnych jelita grubego. Współcz Onkol 2006; 10(8): 395-400.
  • Groden J, Thliveris A, Samowitz W et al.: Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66(3): 589-600.[PubMed][Crossref]
  • Słomski R, Szalata M, Wolko i wsp.: Izolacja DNA. Analiza DNA teoria i praktyka 2008: 44-53.
  • Pławski A, Lubiński J, Banasiewicz T et al.: Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis. J Med Genet 2004; 41(1): e11.[PubMed]
  • Pławski A, Słomski R: The APC gene mutations causing FAP in Polish patients. J Applied Genetics 2008; 49(4): 407-14.[WoS][Crossref]
  • Skrzypczak M, Podralska M, Heinritz W et al.: The MYH gene status in Polish FAP patients without the APC gene mutations. Hereditary Cancer in Clinical Practice 2006; 4: 43-47.
  • Teisseyre M, Pławski A, Podralska et al.: Morphological features of juvenile polyposis syndrome associated with new detected BMPR1A gene mutation. Ann Diagn Paediatr Pathol 2007; 11(3-4): 115-18.
  • Podralska M, Nowakowska D, Steffen J et al.: First Polish CS patient with confirmed PTEN gene mutation. Archives of Medical Science 2008; In press(AMS-00315-2008-02).[WoS]
  • Pławski A, Podralska M, Słomski R: Wkrywanie mutacji metodą DHPLC. Analiza DNA teoria i praktyka 2008; 209-12.
  • Pławski A, Podralska M, Słomski R: Wykrywanie mutacji metodą heterodupleksów. Analiza DNA teoria i praktyka 2008: 202-08.
  • Pławski A, Kaczmarek M, Podralska M, i wsp.: Wykrywanie delecji i duplikacji metoda MLPA. Analiza DNA teoria i praktyka 2008; 225-29.
  • Pławski A, Słomski R, Drews M, i wsp.: Diagnostyka molekularna FAP. Proktologia 2005; 6(1): 51-60.
  • Pławski A, Podralska M, Słomski R: Recurrent APC gene mutations in Polish FAP families. Hereditary Cancer in Clinical Practice 2007; 5(4): 195-98.
  • Pławski A, Nowakowska D, Podralska M et al.: The AAPC case, with an early onset of colorectal cancer. Int J Colorectal Dis 2007; 22(4): 449-51.[PubMed][Crossref]
  • Brożek I, Pławski A, Podralska M et al.: Thyroid cancer in two siblings with FAP syndrome and APC mutation. Int J Colorectal Dis 2008; 23(3): 331-32.[WoS][PubMed][Crossref]
  • Friedl W, Caspari R, Sengteller M et al.: Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001; 48(4): 515-21.
  • Friedl W, Aretz S: Familial Adenomatous Polyposis: Experience from a Study of 1164 Urelated German Plyposis Patients. Hereditary Cancer in Clinical Practice 2005; 3(3): 87-114.
  • Friedl W, Uhlhaas S, Schulmann K et al.: Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum Genet 2002; 111(1): 108-11.
  • Zhou XP, Woodford-Richens K, Lehtonen R et al.: Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet 2001; 69(4): 704-11.[Crossref]
  • Mehenni H, Resta N, Guanti G et al.: Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci 2007; 52(8): 1924-1933.[PubMed][WoS][Crossref]
  • Rustad C, Bjrrnslett M, Heimdal K et al.: Germline PTEN mutations are rare and highly penetrant. Hereditary Cancer in Clinical Practice 2006; 4(4): 177-85.
  • O'Sullivan MJ, Mulcahy TM, Cambell J et al.: Detection of five novel germline mutations of the APC gene in Irish familial adenomatous polyposis families. Hum Mutat 1998; Suppl 1: S251-253.
  • Wallis YL, Morton DG, McKeown CM et al.: Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 1999; 36(1): 14-20.
  • Powell SM, Petersen GM, Krush AJ et al.: Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329(27): 1982-87.
  • Sweet K, Willis J, Zhou XP et al.: Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005; 294(19): 2465-73.
  • Nowak J, Mosor M, Ziółkowska et al.: Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours. Eur J Cancer 2008; 44(4): 627-30.[WoS]
  • Kurzawski G, Suchy J, Kładny J et al.: Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. J Med Genet 2002; 39(10): E65.[Crossref]
  • Kurzawski G, Suchy J, Lener M et al.: Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clin Genet 2006; 69(1): 40-47.

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