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  • Title: Screening for germline p53 mutations in pediatric and adult patients of high-risk groups in Poland.
    Author: Fiszer-Maliszewska L, Czernik J, Sawicz-Birkowska K, Perek D, Kozera M, Wojciechowska B, Kazanowska B, Hudziec P, Kilar E.
    Journal: Arch Immunol Ther Exp (Warsz); 2000; 48(4):309-15. PubMed ID: 11059649.
    Abstract:
    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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