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

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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 Journal of Applied Genetics

1 2001

1 Fiszer-Maliszewska F.-M. L.

1 Fiszer-Maliszewska L.

1 Konopka K. L.

1 Konopka L.

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 Sikorska A.

1 Traczyk T. Z.

1 Traczyk Z.

1 Witkowska A.

1 Witkowska W. A.

1 Wojciechowska B.

1 Wojciechowska W. B.

1 Woroniecka R.

1 Woroniecka W. R.

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