Li-fraumeni syndrome

Preferred Label : Li-fraumeni syndrome;

Symbol : LFS;

CISMeF acronym : LFL; LFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sarcoma family syndrome of LI and fraumeni; Sbla syndrome;

Included titles and symbols : Li-fraumeni-like syndrome; LFL;

Description : 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). - Genetic Heterogeneity of Li-Fraumeni Syndrome A second form of Li-Fraumeni syndrome (LFS2; 609265) is caused by mutation in the CHEK2 gene (604373), and an LFS locus (LFS3; 609266) has been mapped to chromosome 1q23.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in tumor protein p53 (TP53, 191170.0001);

Neoplasia : Breast cancer; Soft tissue sarcomas; Osteosarcomas; Brain tumors; Acute leukemias; Adrenocortical carcinomas; Lung adenocarcinoma; Colon cancer; Pancreatic cancer; Prostate cancer; Wilms tumor; Phyllodes tumor; Choriocarcinoma, gestational;

Prefixed ID : #151623;

Details

Origin ID

151623;

UMLS CUI

C0085390;

Automatic exact mappings (from CISMeF team)
- Li-Fraumeni syndrome [ORDO Disease]
- Li-Fraumeni syndrome [DO Concept]
- Li-Fraumeni syndrome [ICD-11 More detail]
- Li-Fraumeni syndrome [MedDRA Preferred Term]
- Li-Fraumeni syndrome [MeSH concept]
- Li-Fraumeni syndrome [PASCAL descriptor]
- Li-Fraumeni syndrome (disorder) [SNOMED CT concept]
- Li-Fraumeni-Like syndrome [MeSH concept]
- Li-Fraumeni-Like syndrome [MeSH Supplementary Concept]
- TP53 wt Allele [NCIt concept]
- li-fraumeni syndrome [MeSH Descriptor]
- tumor protein p53 [ORDO Gene]
- tumor protein p53 [HGNC gene]
Broader ORDO disease(s)
- Li-Fraumeni syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- sarcoma family syndrome of li and fraumeni [MeSH concept]
- sarcoma family syndrome of li and fraumeni [MeSH Supplementary Concept]
DO Cross reference
- Li-Fraumeni syndrome 1 [DO Concept]
Genes related to phenotype
- Tumor protein p53 [OMIM gene]
HPO term(s)
- Acute leukemia [HPO term]
- Adrenocortical carcinoma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breast carcinoma [HPO term]
- Choriocarcinoma [HPO term]
- Colon cancer [HPO term]
- Lung adenocarcinoma [HPO term]
- Neoplasm of the pancreas [HPO term]
- Nephroblastoma [HPO term]
- Osteosarcoma [HPO term]
- Prostate cancer [HPO term]
- Prostate neoplasm [HPO term]
- Soft tissue sarcoma [HPO term]
ORDO concept(s)
- Li-Fraumeni syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Li Fraumeni syndrome [Disease (Nov.)]
- Li-Fraumeni Syndrome [NCIt concept]
- Li-Fraumeni syndrome [DO Concept]
- Li-Fraumeni syndrome [MedDRA Preferred Term]
- Li-Fraumeni syndrome [MeSH concept]
- Li-Fraumeni syndrome [ORDO Disease]
- Li-Fraumeni syndrome [PASCAL descriptor]
- Li-Fraumeni syndrome (disorder) [SNOMED CT concept]
- li-fraumeni syndrome [MeSH Descriptor]
- sarcoma family syndrome of li and fraumeni [MeSH Supplementary Concept]
- sarcoma family syndrome of li and fraumeni [MeSH concept]
Validated automatic mappings to NTBT
- Li-Fraumeni Syndrome [NCIt concept]

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