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LFS
MCID: LFR001
MIFTS: 73
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Li-Fraumeni Syndrome (LFS)
Categories:
Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Li-Fraumeni Syndrome:
Characteristics:Orphanet epidemiological data:58
li-fraumeni syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (United States); Age of onset: All ages; Age of death: any age; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
increased risk of developing multiple primary cancers early age of onset penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers female mutation carriers have earlier age at onset compared to male mutation carriers gestational choriocarcinoma is seen in female partners of lfs patients after parental-fetal transmission of germline tp53 mutation from male carriers HPO:31GeneReviews:25
Penetrance Lfs is typically considered to be a highly penetrant cancer syndrome with a 70% or higher lifetime risk of cancer in men and a 90% or higher lifetime risk of cancer in women [mai et al 2016, guha & malkin 2017]. another study reported an 80% risk of cancer by age 70, with 22% of the cancers occurring between ages 0 and15 years, 51% between ages 16 and 50 years, and 27% between ages 51 and 80 years [amadou et al 2018]....
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Neuronal diseases Endocrine diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare endocrine diseases External Ids:
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OMIM® :
57
Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterized by autosomal dominant inheritance and early onset of tumors, multiple tumors within an individual, and multiple affected family members. In contrast to other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types. The most common types are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. Classic LFS is defined as a proband with a sarcoma before the age of 45 years and a first-degree relative with any cancer before the age of 45 years and 1 additional first- or second-degree relative in the same lineage with any cancer before the age of 45 years or a sarcoma at any age (Li et al., 1988). Li-Fraumeni-like syndrome (LFL) is defined as a proband with any childhood cancer, or a sarcoma, brain tumor, or adrenocortical tumor before the age of 45 years, plus a first- or second-degree relative in the same lineage with a typical LFS tumor at any age, and an additional first- or second-degree relative in the same lineage with any cancer before the age of 60 years (Birch et al., 1994). A less restrictive definition of LFL is 2 different LFS-related tumors in first- or second-degree relatives at any age (Eeles, 1995). Approximately 70% of LFS cases and 40% of LFL cases contain germline mutations in the p53 gene on chromosome 17p13.1 (Bachinski et al., 2005).
(151623) (Updated 05-Mar-2021)
MalaCards based summary : Li-Fraumeni Syndrome, also known as sarcoma family syndrome of li and fraumeni, is related to li-fraumeni syndrome 1 and soft tissue sarcoma. An important gene associated with Li-Fraumeni Syndrome is TP53 (Tumor Protein P53), and among its related pathways/superpathways are MAPK signaling pathway and Cell cycle. The drugs Nicotinamide and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include breast, adrenal gland and lung, and related phenotypes are breast carcinoma and osteosarcoma Disease Ontology : 12 A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. MedlinePlus Genetics : 43 Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different. GARD : 20 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 connective tissue), breast cancer, brain tumors, leukemia and adrenocortical carcinoma; however, many other types of cancer have been reported in people with this condition. It is caused by changes (mutations) in the TP53 gene and is inherited in an autosomal dominant manner. Management may include high-risk cancer screening and/or prophylactic surgeries. KEGG : 36 Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, LFS and its variants are increasingly recognized as one of the most frequent and diverse forms of predisposition to cancer. Most cases identified and characterized to date are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP53 (p53). In a subset of non-p53 patients with LFS, CHEK2 has been identified as another predisposing locus. LFS is diagnosed on the basis of the confirmed clinical diagnostic criteria. UniProtKB/Swiss-Prot : 73 Li-Fraumeni syndrome: An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. Wikipedia : 74 Li-Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to... more...
GeneReviews:
NBK1311
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Human phenotypes related to Li-Fraumeni Syndrome:58 31 (show all 39)
Clinical features from OMIM®:151623 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:26 (show top 50) (show all 63)
MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:46 (show all 23)
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Drugs for Li-Fraumeni Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 22)
Interventional clinical trials:(show all 13)
Cochrane evidence based reviews: li-fraumeni syndrome |
Genetic tests related to Li-Fraumeni Syndrome:
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MalaCards organs/tissues related to Li-Fraumeni Syndrome:40
Breast,
Adrenal Gland,
Lung,
Colon,
Prostate,
Brain,
Myeloid
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Articles related to Li-Fraumeni Syndrome:(show top 50) (show all 1131)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Li-Fraumeni Syndrome:6 (show top 50) (show all 1324)
UniProtKB/Swiss-Prot genetic disease variations for Li-Fraumeni Syndrome:73 (show top 50) (show all 83)
Cosmic variations for Li-Fraumeni Syndrome:9 (show top 50) (show all 626)
Copy number variations for Li-Fraumeni Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Li-Fraumeni Syndrome.
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Pathways related to Li-Fraumeni Syndrome according to KEGG:36
Pathways related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 87)
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Cellular components related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 52)
Molecular functions related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:
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