{"orpha":524,"name":"Li-Fraumeni syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-524/","orphanet_url":"https://www.orpha.net/en/disease/detail/524","names":{"fr":{"name":"Syndrome de Li-Fraumeni","definition":"Syndrome rare de prédisposition au cancer caractérisé par l'apparition précoce de plusieurs cancers primitifs tels que le cancer du sein, les sarcomes osseux et des tissus mous, la tumeur cérébrale et le corticosurrénalome (ACC), les leucémies et d'autres cancers."},"de":{"name":"Li-Fraumeni-Syndrom","definition":"Das Li-Fraumeni-Syndrom (LFS) ist ein seltenes Krebsprädispositionssyndrom, das durch das frühe Auftreten mehrerer primärer Krebsarten wie Brustkrebs, Weichteil- und Knochensarkome (s. dort), Hirntumore und Nebennierenrindenkarzinom (ACC) (s.dort), Leukämien und andere Krebsarten gekennzeichnet ist."},"es":{"name":"Síndrome de Li-Fraumeni","definition":"Es un síndrome de predisposición al cáncer hereditario poco común, que se caracteriza por la aparición temprana de múltiples cánceres primarios que incluyen cáncer de mama, sarcomas de tejidos blandos y huesos, tumores cerebrales, carcinoma de corteza suprarrenal (CCS), leucemias y otros cánceres."},"it":{"name":"Sindrome di Li-Fraumeni","definition":"La sindrome di Li-Fraumeni (LFS) è una malattia ereditaria rara da predisposizione ai tumori, caratterizzata da neoplasie multiple ad esordio precoce, che comprendono il tumore della mammella, dei tessuti molli e delle ossa, i tumori cerebrali, i tumori della corteccia surrenale (ACC), le leucemie e altri tipi di tumore."},"nl":{"name":"Syndroom van Li-Fraumeni","definition":"Een zeldzame, erfelijk kankerpredispositiesyndroom, gekarakteriseerd door vroege aanvang van meerdere primaire kankers, waaronder borstkanker, sarcomen van weke delen en van bot, hersentumoren, adrenocorticaal carcinoom (ACC), leukemieën, en andere kankers."},"pt":{"name":"Síndrome Li-Fraumeni"},"pl":{"name":"Zespół Li i Fraumeni","definition":"Rzadki, dziedziczny zespół predyspozycji do nowotworów charakteryzujący się występowanie licznych pierwotnych nowotworów o wczesnym początku, w tym raka piersi, mięsaków tkanek miękkich i kości, guzów mózgu, raka kory nadnerczy, białaczek i innych nowotworów."},"cs":{"name":"Liův-Fraumeniho syndrom","synonyms":["Li-Fraumeni syndrom"]},"uk":{"name":"Синдром Лі-Фраумені","definition":"A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers."},"zh":{"name":"Li-Fraumeni综合征"},"tr":{"name":"Li-Fraumeni sendromu"}},"xrefs":[{"source":"OMIM","code":"151623","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609265","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C97","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B51.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1968061860"},{"source":"MONDO","code":"0018875","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016864","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085390","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6902","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066795","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":619340,"name":"Inherited hematologic cancer-predisposing syndrome","classifications":[156,202]},{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":314749,"name":"Rare disease with adrenal Cushing syndrome as a major feature","classifications":[193]}],"children":[],"genes":[{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"28592523[PMID]_29263814[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"]},{"symbol":"CHEK2","name":"checkpoint kinase 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11719428[PMID]_21562711[PMID]_20301488[PMID]","hgnc":"16627","ensembl":"ENSG00000183765","omim":"604373","loci":["22q12.1"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301488[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"MDM2","name":"MDM2 proto-oncogene","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"23884452[PMID]","hgnc":"6973","ensembl":"ENSG00000135679","omim":"164785","loci":["12q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"United Kingdom","status":"Validated","source":"23939697[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"United States","status":"Validated","source":"19556618[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30335319[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-23","source":"21552135[PMID]_20301488[PMID]","terms":[{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006744","label":"Adrenocortical carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030070","label":"Central primitive neuroectodermal tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030392","label":"Choroid plexus carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002888","label":"Ependymoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012174","label":"Glioblastoma multiforme","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007378","label":"Neoplasm of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002669","label":"Osteosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006721","label":"Acute lymphoblastic leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100768","label":"Choriocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012189","label":"Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002885","label":"Medulloblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012288","label":"Neoplasm of head and neck","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100605","label":"Neoplasm of the larynx","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012539","label":"Non-Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012125","label":"Prostate cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}