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  • Title: The first case of Li-Fraumeni syndrome in Bosnia and Herzegovina: case report.
    Author: Vranic S, Kapur L, Foco F, Bilalovic N, Hainaut P.
    Journal: Pathologica; 2006 Apr; 98(2):156-9. PubMed ID: 16929790.
    Abstract:
    Li-Fraumeni syndrome (LFS) is a very rare autosomal dominant and highly penetrant cancer syndrome characterized by early-onset primary tumours, including soft tissue and bone sarcoma, breast cancer, leukemia, brain tumours and adrenocortical carcinoma. Here we report the first evidence-based case of LFS in Bosnia and Herzegovina and the whole Balkan region. A ten year-old girl developed multiple primary tumours (rhabdomyosarcoma) during a period of eight years, as well as fibroadenoma of the breast. Sequential analysis revealed a germ line mutation of TP53 in exon 8, a common mutation in patients with LFS, in both the patient and her mother.
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