Journal of Applied Genetics 42(3), 2001, pp. 379-384

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

Anna SIKORSKA, Zdzislawa TRACZYK, Lech KONOPKA, Lucja FISZER-MALISZEWSKA, Beata WOJCIECHOWSKA, Barbara PIENKOWSKA-GRELA, Jolanta RYGIER, Renata WORONIECKA, Anna WITKOWSKA, Marek RUSIN

Abstract: 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.

Key words: chromosomal aberrations, direct sequencing, Li-Fraumeni syndrome, PCR-SSCP, p53 tumour suppressor gene.

Correspondence: A. SIKORSKA, Institute of Haematology and Blood Transfusion, ul. Chocimska 5, 00-957 Warszawa, Poland.