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Online mutation report
Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis
  1. A Plawski1,
  2. J Lubiński7,
  3. T Banasiewicz8,
  4. J Paszkowski8,
  5. D Lipinski1,
  6. A Strembalska4,
  7. G Kurzawski7,
  8. T Byrski7,
  9. S Zajaczek7,
  10. D Hodorowicz-Zaniewska3,
  11. T Gach3,
  12. I Brożek2,
  13. D Nowakowska5,
  14. E Czkwaniec6,
  15. P Krokowicz8,
  16. M Drews8,
  17. J Zeyland1,
  18. W Juzwa1,
  19. R Słomski1
  1. 1Institute of Human Genetics Polish Academy, Poznań, Poland
  2. 2Department of Biology and Genetics, Medical University of Gdańsk, Gdańsk, Poland
  3. 31st Department of General and GI Surgery, Jagiellonian University, Cracov, Poland
  4. 4Genetic Department, Medical University Wroclaw, Wroclaw, Poland
  5. 5Genetic Counselling Unit, Cancer Center and Institute of Oncology, Warsaw, Poland
  6. 6Department of Pediatrics and Gastroenterology, Institute of Polish Mother’s Memorial Hospital, Lódz, Poland
  7. 7Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
  8. 83rd Clinic of Surgery, Academy of Medicine, Poznań, Poland
  1. Correspondence to:
 Dr A Plawski
 Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479 Poznan, Poland; andpman.poznan.pl

https://doi.org/10.1136/jmg.2003.010215

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    Familial adenomatous polyposis (FAP) is a genetically determined disorder that is inherited in an autosomal dominant manner. The occurrence of FAP is associated with mutations in the APC gene, which were described in 1991.1De novo mutations of the APC gene occur in one per 10 000 newborns. The APC gene is localised on chromosome 5q21 and consists of 21 exons. In most cases, mutations of the APC gene are small deletions or insertions: the AAAGA deletion at codon 1309, which occurs in 10% of families with FAP, and the ACAAA deletion at codon 1061, which occurs in 5% of families with FAP, are the most frequent mutations. Ninety-two percent of all mutations in the APC gene lead to truncations of the APC protein product. Dysfunction of the APC gene causes the accumulation of B-cathenin and the expression of genes that promote cell division.

    The FAP syndrome contributes only a relatively low percentage of all colorectal carcinomas (1–2%) and is characterised by the presence of numerous (at least 100) polyps that line the mucosa of the large intestine and rectum. The occurrence of other gastrointestinal adenomas, cutaneous sebaceous cysts, osteomas (mostly in the jaw, scapula, and long bones), connective tissue neoplasms, desmoid tumours, and, in some cases, coexisting duodenal and thyroid carcinomas (which together are classified as Gardner syndrome) and less common structural deformations in the teeth may also be observed.2,3 The DNA bank of Polish families with FAP was established in 1997 at the Institute of Human Genetics, Polish Academy of Science in Poznań.

    This study reports a spectrum of mutations of the APC gene in Polish patients with FAP.

    MATERIAL AND METHODS

    Patients

    Clinical diagnoses of FAP in patients were established in genetic centres or gastroenterology clinics in Poznań, Szczecin, Kraków, Wrocław, Gdańsk, Warszawa, and Lódź, appropriate to the …

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