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2001 | 42 | 3 | 379-384
Article title

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

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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.
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Publisher

Year
Volume
42
Issue
3
Pages
379-384
Physical description
References
Document Type
ARTICLE
Publication order reference
A. Sikorska, Institute of Haematology and Blood Transfusion, ul. Chocimska 5, 00-957 Warszawa, Poland
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-d3216424-c771-3f79-9a6a-db18ace35e6b
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