Li-Fraumeni syndrome;Syndrom Li-Fraumeni

Cesko-Slovenska Pediatrie

Volumn 58, Issue 9, 2003, Pages 552-555

  Krutílková, Věra ^a   Trkova M ^a   Kodet, R ^a   Sumerauer, D ^a   Nekolna M ^a   Seemanova E ^a   Vodvarka P ^b   Foretova L ^c   Goetz, P ^a   Sedlacek Z ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b Radioterapeuticka Klinika FNsP   (Czech Republic)

^c Masarykuv Onkologicky Ustav   (Czech Republic)

Author keywords

Anticipation; Cancer family; Childhood cancers; Germline TP53 mutations; Hereditary predisposition to cancer; Li Fraumeni syndrome; Oncogenetic counselling; Preventative follow up

Indexed keywords

ADRENAL CORTEX CARCINOMA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN TUMOR; BREAST CANCER; CANCER SUSCEPTIBILITY; CHILDHOOD CANCER; DOCTOR PATIENT RELATION; EARLY DIAGNOSIS; ETHICS; FAMILIAL CANCER; FOLLOW UP; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HEALTH CARE QUALITY; HUMAN; ONSET AGE; PSYCHOLOGICAL ASPECT; RISK ASSESSMENT; SARCOMA; TEAMWORK; TP53 GENE; TUMOR SUPPRESSOR GENE;

EID: 17344377036     PISSN: 00692328     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Eng, C., Hampel, H., de la Chapelle, A.: Genetic testing for cancer predisposition. Ann. Rev. Med., 52, 2001, s. 371-400.
2. Chompret, A.: The Li-Fraumeni syndrome. Biochimie, 84, 2002, s. 75-82.
3. Chompret, A., Abel, A., Stoppa-Lyonnet, D. et al.: Sensitivity and predictive value of criteria for p53 germline mutation screening. J. Med. Genet., 38, 2001, s. 43-47.
4. Li, F. P., Fraumeni, J. F. Jr.: Soft tissue sarcomas, breast cancer, and other neoplasms: a familial syndrome? Ann. intern. Med., 71, 1969, s. 747-752.
5. Li, F. P., Fraumeni, J. F., Mulvihill, J. J. et al.: A cancer family syndrome in twenty-four kindreds. Cancer Res., 48, 1988, s. 5358-5362.
6. Li, F. P., Garber, J. E., Friend, S. H. et al.: Recommendations on redictive testing for germ line p53 mutations among cancer-prone individuals. J. nat. Cancer Inst., 84, 1992, s. 1156-1160.
7. Malkin, D., Li, F. P., Strong, L. C. et al.: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science, 250, 1990, s. 1233-1238.
8. Sedlacek, Z., Kodet, R., Kriz, V. et al.: Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type allele in only 50% of tumours. Brit. J. Cancer, 77, 1998, s. 1034-1039.
9. Trkova, M., Hladikova, M., Kasal, P., Goetz, P., Sedlacek, Z.: Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome? J. Hum. Genet., 47, 2002, s. 381-386.
10. Varley, J. M., Evans, D. G. R., Birch, J. M.: Li-Fraumeni syndrome - a molecular and clinical review. Brit. J. Cancer, 76, 1977, s. 1-14.