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Screening for germline p53 mutations in pediatric and adult patients of high-risk groups in Poland

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Fiszer-Maliszewska L., Czernik J., Sawicz-Birkowska K., Perek D., Kozera M., Wojciechowska B., Kazanowska B., Hudziec P., Kilar E.

Archivum Immunologiae et Therapiae Experimentalis

2000

vol. 48

issue 4

309-315

Germline mutations of the p53 gene lead to cell transformation in various tissues. Such a complex cancer phenotype makes it difficult to recognize the carriers of the defective allele. Several studies undertaken to identify high-risk groups found germline p53 mutations in familial cancer aggregations and in patients with multiple tumors. We screened 189 pediatric and 48 adult patients. The high-risk groups comprised 41 patients with a family history of cancer and 35 with multiple neoplasms. Furthermore, 124 tumors were screened for somatic mutations. p53 exons 2 to 11 were analyzed by polymerase chain reaction and single strand conformation polymorphism (PCR-SSCP) followed by direct sequencing of abnormal DNA fragments. No germline p53 mutations were found and somatic mutations were detected in 5 of 59 sarcomas, globally, in 8 of 124 tumors. In conclusion, in Poland, p53 alterations do not seem very important for the predisposition to malignancy and development of sarcomas.

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype

100%

Smigiel R., Lebioda A., Patkowski D., Czernik J., Dobosz T., Pesz K., Kaczmarz M., Sasiadek M. M.

issue 3

261-267

Hirschsprung disease (HSCR) is a congenital, heterogeneous disorder, characterized by the absence of intestinal ganglion cells. Recent advances show that the RET gene is a major locus involved in the pathogenesis of HSCR. The aim of this study was to analyse if the HSCR phenotype in the Polish population is associated with the presence of polymorphisms in exons 2, 3, 7, 11, 13, 14 and 15 of the RET gene. Molecular results were compared with clinical and long-term follow-up data in 70 Polish patients with HSCR (84.3% with a short segment and 15.7% with a long segment of aganglionic gut). Single-nucleotide polymorphisms were analysed by using the minisequencing SNaPshot multiplex method. The 135G>A polymorphism in RET exon 2 was overrepresented in HSCR patients, compared with a healthy control group. Moreover, the 135G>A variant was shown to be associated with the severe HSCR phenotype. Two other polymorphisms, 2071G>A in exon 11 and 2712C>G in exon 15, were underrepresented in the patients. The results confirm that these RET polymorphisms play a role in the aetiology of HSCR.

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1 Archivum Immunologiae et Therapiae Experimentalis

1 Journal of Applied Genetics

1 2006

1 2000

2 Czernik J.

1 Dobosz T.

1 Fiszer-Maliszewska L.

1 Hudziec P.

1 Kaczmarz M.

1 Kazanowska B.

1 Kilar E.

1 Kozera M.

1 Lebioda A.

1 Patkowski D.

1 Perek D.

1 Pesz K.

1 Sasiadek M. M.

1 Sawicz-Birkowska K.

1 Smigiel R.

1 Wojciechowska B.

Search results

Screening for germline p53 mutations in pediatric and adult patients of high-risk groups in Poland

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype