title: Screening for germline p53 mutations in pediatric and adult patients of high-risk groups in Poland.
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.
authors.affiliation: Department of Microbiology, Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland . fiszer@immuno.iitd.pan.wroc.pl
authors.forename: L
authors.initials: L
authors.lastname: Fiszer-Maliszewska
authors.forename: J
authors.initials: J
authors.lastname: Czernik
authors.forename: K
authors.initials: K
authors.lastname: Sawicz-Birkowska
authors.forename: D
authors.initials: D
authors.lastname: Perek
authors.forename: M
authors.initials: M
authors.lastname: Kozera
authors.forename: B
authors.initials: B
authors.lastname: Wojciechowska
authors.forename: B
authors.initials: B
authors.lastname: Kazanowska
authors.forename: P
authors.initials: P
authors.lastname: Hudziec
authors.forename: E
authors.initials: E
authors.lastname: Kilar
mesh_terms: D000328:Adult; D002648:Child; D016158:Genes, p53; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics; D009362:Neoplasm Metastasis / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors; D012509:Sarcoma / Q000235:genetics