Preferred Label : li-fraumeni syndrome;

MeSH definition : Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.;

MeSH synonym : li fraumeni syndrome;

CISMeF synonym : Li-Fraumeni; Li Fraumeni; li-fraumeni's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Li fraumeni syndrome;

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Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.

http://kce.fgov.be/fr/publication/report/tests-oncog%C3%A9n%C3%A9tiques-et-suivi-des-femmes-atteintes-dune-forme-h%C3%A9r%C3%A9ditaire-de-canc
https://kce.fgov.be/sites/default/files/2021-12/KCE_236Bs_tests_oncogenetiques_resume.pdf
2015
false
false
false
Belgium
French
practice guideline
genetic predisposition to disease
hereditary breast and ovarian cancer syndrome
li-fraumeni syndrome
hamartoma syndrome, multiple
genetic testing
continuity of patient care

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=524
2004
true
France
French
li-fraumeni syndrome
scientific and technical information

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http://www.john-libbey-eurotext.fr/fr/revues/medecine/bdc/e-docs/00/01/12/49/resume.md
2001
France
French
genes, p53
li-fraumeni syndrome
child
adult
li-fraumeni syndrome
li-fraumeni syndrome
patient care management
journal article
practice guideline

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