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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.

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.

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1 Archivum Immunologiae et Therapiae Experimentalis

1 2000

1 Czernik J.

1 Fiszer-Maliszewska L.

1 Hudziec P.

1 Kazanowska B.

1 Kilar E.

1 Kozera M.

1 Perek D.

1 Sawicz-Birkowska K.

1 Wojciechowska B.

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