Disease or Syndrome
Li-Fraumeni syndrome
[ lee-frah-meh-nee sin-drome ]
Subclass of:
Neoplastic Syndromes, Hereditary;
DNA Repair-Deficiency Disorders
Definitions related to li-fraumeni syndrome:
-
A rare, inherited predisposition to multiple cancers, caused by an alteration in the p53 tumor suppressor gene.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
-
An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene or CHEK2 gene. It is characterized by the development of malignant neoplasms at various anatomic sites. The malignant neoplasms associated with Li-Fraumeni syndrome include breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, gastric carcinoma, colorectal carcinoma, thyroid gland carcinoma, kidney carcinoma, prostate carcinoma, astrocytic tumors, medulloblastoma, osteosarcoma, soft tissue sarcoma, leukemia, and non-Hodgkin lymphoma.NCI ThesaurusU.S. National Cancer Institute, 2021
-
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. The lifetime risk of cancer in individuals with LFS is =70% for men and =90% for women. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. LFS is associated with an increased risk of several additional cancers including leukemia, lymphoma, gastrointestinal cancers, cancers of head and neck, kidney, larynx, lung, skin (e.g., melanoma), ovary, pancreas, prostate, testis, and thyroid. Individuals with LFS are at increased risk for cancer in childhood and young adulthood; survivors are at increased risk for multiple primary cancers.GeneReviewsUniversity of Washington, 2021
-
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.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
-
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant syndrome in which patients are predisposed to cancer. Li-Fraumeni syndrome is characterized by the wide variety of cancer types seen in affected individuals, a young age at onset of malignancies, and the potential for multiple primary sites of cancer during the lifetime of affected...WebMD, 2019
-
Li-Fraumeni syndrome (LFS) is an inherited condition that is characterized by an increased risk for certain types of cancer. Affected people often develop cancer at an earlier age than expected and may be diagnosed with more than one cancer during their lifetime. LFS is primarily associated with sarcomas (cancers of muscle, bone or...National Center for Advancing Translational Sciences
Return to OpenMD Medical Dictionary
> L
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.