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

• Authors: A. Sikorska , Traczyk Z. Traczyk , Z. Traczyk , Konopka L. Konopka , L. Konopka , Fiszer-Maliszewska L. Fiszer-Maliszewska , L. Fiszer-Maliszewska , Wojciechowska B. Wojciechowska , B. Wojciechowska , Pienkowska-Grela B. Pienkowska-Grela , B. Pienkowska-Grela , Rygier J. Rygier , J. Rygier , Woroniecka R. Woroniecka , R. Woroniecka , Witkowska A. Witkowska , A. Witkowska , Rusin M. Rusin , M. Rusin
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

CHROMOSOMAL ABERRATION; DIRECT SEQUENCING; LI-FRAUMENI SYNDROME; TUMOR SUPPRESSOR GENE; TUMOUR SUPPRESSOR GENE

Discipline

• GENETICS: GENETICS

• Journal: Journal of Applied Genetics
• Year: 2001
• Volume: 42
• Issue: 3
• Pages: 379-384

Contributors

author

A. Sikorska

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Traczyk Z. Traczyk

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Z. Traczyk

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Konopka L. Konopka

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L. Konopka

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Fiszer-Maliszewska L. Fiszer-Maliszewska

author

L. Fiszer-Maliszewska

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Wojciechowska B. Wojciechowska

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B. Wojciechowska

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Pienkowska-Grela B. Pienkowska-Grela

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B. Pienkowska-Grela

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Rygier J. Rygier

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J. Rygier

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Woroniecka R. Woroniecka

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R. Woroniecka

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Witkowska A. Witkowska

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A. Witkowska

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Rusin M. Rusin

author

M. Rusin

• Document Type: ARTICLE
• Publication order reference: A. Sikorska, Institute of Haematology and Blood Transfusion, ul. Chocimska 5, 00-957 Warszawa, Poland