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;
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
--- 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
--- 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