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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.

Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations

88%

Sikorska A., Traczyk T. Z., Traczyk Z., Konopka K. L., Konopka L., Fiszer-Maliszewska F.-M. L., Fiszer-Maliszewska L., Wojciechowska W. B., Wojciechowska B., Pienkowska-Grela P.-G. B., Pienkowska-Grela B., Rygier R. J., Rygier J., Woroniecka W. R., Woroniecka R., Witkowska W. A., Witkowska A., Rusin R. M., Rusin M.

Journal of Applied Genetics

2001

vol. 42

issue 3

379-384

Li-Fraumeni syndrome is a rare autosomal, dominant trait of diverse types of cancers in children and young adults, with a predominance of soft tissue sarcomas, osteosarcomas, brain tumours, adrenocortical and breast carcinomas, as well as leukaemias. We present a family with an unusual cancer history fulfilling the criteria of Li-Fraumeni syndrome. Mutational analysis of the p53 gene in constitutional DNA of several affected members of the family did not show any germline p53 defect. Cytogenetic studies did not reveal any structural aberrations.

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1 Archivum Immunologiae et Therapiae Experimentalis

1 Journal of Applied Genetics

1 2001

1 2000

2 Fiszer-Maliszewska L.

2 Wojciechowska B.

1 Czernik J.

1 Fiszer-Maliszewska F.-M. L.

1 Hudziec P.

1 Kazanowska B.

1 Kilar E.

1 Konopka K. L.

1 Konopka L.

1 Kozera M.

1 Perek D.

1 Pienkowska-Grela B.

1 Pienkowska-Grela P.-G. B.

1 Rusin M.

1 Rusin R. M.

1 Rygier J.

1 Rygier R. J.

1 Sawicz-Birkowska K.

1 Sikorska A.

1 Traczyk T. Z.

1 Traczyk Z.

1 Witkowska A.

1 Witkowska W. A.

1 Wojciechowska W. B.

1 Woroniecka R.

1 Woroniecka W. R.

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

Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations