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

• Authors: L. Fiszer-Maliszewska , J. Czernik , K. Sawicz-Birkowska , D. Perek , M. Kozera , B. Wojciechowska , B. Kazanowska , P. Hudziec , E. Kilar
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

GERMLINE MUTATION; LI-FRAUMENI SYNDROME; P53 TUMOR; SUPPRESSOR GENE

Discipline

• IMMUNOLOGY: IMMUNOLOGY

• Publisher: Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences
• Journal: Archivum Immunologiae et Therapiae Experimentalis
• Year: 2000
• Volume: 48
• Issue: 4
• Pages: 309-315

Contributors

author

L. Fiszer-Maliszewska

author

J. Czernik

author

K. Sawicz-Birkowska

author

D. Perek

author

M. Kozera

author

B. Wojciechowska

author

B. Kazanowska

author

P. Hudziec

author

E. Kilar

• Document Type: ARTICLE
• Publication order reference: L. Fiszer-Maliszewska, Department of Microbiology, Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Weigla 12, 53-114 Wroclaw, Poland