MCID: LFR001
MIFTS: 72

Li-Fraumeni Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Li-Fraumeni Syndrome

MalaCards integrated aliases for Li-Fraumeni Syndrome:

Name: Li-Fraumeni Syndrome 54 54 12 72 23 50 24 25 56 71 29 13 13 52 42 14 69
Sbla Syndrome 12 23 50 24 25
Li-Fraumeni Syndrome 2 71 29 69
Sarcoma Family Syndrome of Li and Fraumeni 50 25
Li-Fraumeni Syndrome 1 29 69
Lfs 25 71
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 25
Sarcoma, Breast, Leukaemia and Adrenal Gland Syndrome 12
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 12
Li Fraumeni Syndrome 50
Lfs1 50
Lfs2 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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


HPO:

32
li-fraumeni syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Lfs is a highly penetrant cancer syndrome. the risks for cancer in lfs are estimated to be 50% by age 30 years and 90% by age 60 years [lustbader et al 1992]. however, men with lfs may have significantly lower lifetime risks of cancer than women [wu et al 2006] (see clinical description). these figures may still be somewhat biased, since individuals are typically offered tp53 testing if they are diagnosed with cancer at unusually young ages...

Classifications:



Summaries for Li-Fraumeni Syndrome

UniProtKB/Swiss-Prot : 71 Li-Fraumeni syndrome: 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 (PubMed:8118819 and PubMed:8718514) 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. Li-Fraumeni syndrome 2: A highly penetrant 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 (PubMed:8118819 and PubMed:8718514) 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.

MalaCards based summary : Li-Fraumeni Syndrome, also known as sbla syndrome, is related to adrenal cortical carcinoma and gastric cancer, somatic, and has symptoms including lymphoma, melanoma and breast carcinoma. An important gene associated with Li-Fraumeni Syndrome is TP53 (Tumor Protein P53), and among its related pathways/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and adrenal gland, and related phenotypes are Decreased viability and cellular

Disease Ontology : 12 An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

Genetics Home Reference : 25 Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

NIH Rare Diseases : 50 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. last updated: 5/4/2015

OMIM : 54
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)

Wikipedia : 72 Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder {except for the greater than... more...

GeneReviews: NBK1311

Related Diseases for Li-Fraumeni Syndrome

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 3 Li-Fraumeni Syndrome, Chek2-Related

Diseases related to Li-Fraumeni Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 211)
id Related Disease Score Top Affiliating Genes
1 adrenal cortical carcinoma 30.4 BAX BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
2 gastric cancer, somatic 29.6 BAX BCL2 CDKN1A CDKN2A EGFR MLH1
3 prostate cancer 27.2 BAX BCL2 BRCA1 BRCA2 CAV1 CDKN1A
4 lung cancer 25.9 ATM BAX BCL2 CAV1 CDKN1A CDKN2A
5 colorectal cancer 22.6 ATM BAX BCL2 BRCA1 BRCA2 CAV1
6 li-fraumeni syndrome 3 12.2
7 li-fraumeni syndrome, chek2-related 12.2
8 glioblastoma 11.4
9 soft tissue sarcoma 11.4
10 lujan-fryns syndrome 11.3
11 lassa fever 11.1
12 medulloblastoma 11.1
13 familial stomach cancer 11.1
14 stomach cancer 11.1
15 adrenal carcinoma 11.1
16 pilocytic astrocytoma 11.1
17 rnase t2-deficient leukoencephalopathy 10.9 MDM2 TP53
18 cervical adenoid cystic carcinoma 10.9 CDKN2A TP53
19 primitive neuroectodermal tumor of the corpus uteri 10.8 BRCA1 BRCA2
20 pediatric infratentorial ependymoma 10.8 EGFR TP53
21 baraitser-winter cerebrofrontofacial syndrome 10.7 BRCA1 BRCA2
22 bronchopulmonary dysplasia 10.7 BRCA1 BRCA2
23 cutaneous lupus erythematosus 10.7 BRCA1 BRCA2
24 secondary pulmonary hemosiderosis 10.7 CDKN2A MDM2 TP53
25 autoimmune disease of blood 10.7 BRCA1 BRCA2
26 bladder squamous cell carcinoma 10.7 CDKN2A MDM2 TP53
27 selective immunoglobulin deficiency disease 10.7 BRCA1 BRCA2
28 acute cholinergic dysautonomia 10.7 CDKN1A MDM2 TP53
29 esophagus squamous cell carcinoma 10.7 CDKN2A PTEN TP53
30 lichen nitidus 10.7 CDKN1A MDM2 TP53
31 endocervicitis 10.7 BRCA1 BRCA2 TP53
32 breast pericanalicular fibroadenoma 10.7 BRCA1 BRCA2 TP53
33 extracranial neuroblastoma 10.7 BRCA1 BRCA2 TP53
34 toxic megacolon 10.6 CDKN1A MDM2 TP53
35 multiple carboxylase deficiency 10.6 CDKN2A EGFR TP53
36 pancreatic cancer 4 10.6 BRCA1 BRCA2
37 middle ear squamous cell carcinoma 10.6 CDKN2A EGFR TP53
38 lung clear cell-sugar-tumor 10.6 CDKN1A MDM2 TP53
39 mycetoma 10.6 BRCA1 BRCA2 TP53
40 bannayan-riley-ruvalcaba syndrome 10.6 EGFR PTEN
41 secondary hyperparathyroidism of renal origin 10.6 CDKN2A EGFR TP53
42 fallopian tube carcinosarcoma 10.6 BRCA1 BRCA2 TP53
43 molluscum contagiosum 10.6 CDKN2A EGFR TP53
44 rectum kaposi's sarcoma 10.6 EGFR PTEN TP53
45 dental caries 10.6 BRCA1 BRCA2 TP53
46 adenosarcoma 10.6 CHEK2 MDM2 TP53
47 nasal cavity disease 10.6 BRCA1 BRCA2 TP53
48 hodgkin's lymphoma, mixed cellularity 10.6 CDKN1A CDKN2A TP53
49 bleeding disorder, platelet-type, 13 10.6 BRCA2 PTEN TP53
50 trachea carcinoma in situ 10.6 BRCA1 BRCA2 TP53

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome:



Diseases related to Li-Fraumeni Syndrome

Symptoms & Phenotypes for Li-Fraumeni Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neoplasia:
prostate cancer
wilms tumor
colon cancer
breast cancer
pancreatic cancer
more

Clinical features from OMIM:

151623 609265

Human phenotypes related to Li-Fraumeni Syndrome:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002665
2 melanoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002861
3 breast carcinoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0003002
4 sarcoma 56 32 Very frequent (99-80%) HP:0100242
5 osteosarcoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002669
6 neoplasm of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008069
7 neoplasm of the adrenal cortex 56 32 hallmark (90%) Very frequent (99-80%) HP:0100641
8 progressive encephalopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002448
9 neoplasm of the pancreas 56 32 hallmark (90%) Very frequent (99-80%) HP:0002894
10 neoplasm of the nervous system 56 32 hallmark (90%) Very frequent (99-80%) HP:0004375
11 neoplasm of the colon 56 32 hallmark (90%) Very frequent (99-80%) HP:0100273
12 prostate cancer 32 HP:0012125
13 colon cancer 32 HP:0003003
14 lung adenocarcinoma 32 HP:0030078
15 meningioma 32 HP:0002858
16 glioma 32 HP:0009733
17 nephroblastoma 32 HP:0002667
18 adrenocortical carcinoma 32 HP:0006744
19 neoplasm 56 Very frequent (99-80%)
20 acute leukemia 32 HP:0002488
21 stomach cancer 32 HP:0012126
22 prostate neoplasm 32 HP:0100787
23 soft tissue sarcoma 32 HP:0030448

GenomeRNAi Phenotypes related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.91 EGFR
2 Decreased viability GR00221-A-1 10.91 CDKN2A CHEK1 EGFR NF1 PKM
3 Decreased viability GR00221-A-2 10.91 CHEK1 CHEK2 BRCA1 NF1
4 Decreased viability GR00221-A-3 10.91 ATM CDKN2A CHEK1 CHEK2 BRCA1
5 Decreased viability GR00221-A-4 10.91 ATM CDKN2A CHEK1 CHEK2 EGFR NF1
6 Decreased viability GR00231-A 10.91 PKM
7 Decreased viability GR00240-S-1 10.91 CHEK1
8 Decreased viability GR00301-A 10.91 CHEK1 BRCA1
9 Decreased viability GR00342-S-1 10.91 PKM
10 Decreased viability GR00342-S-2 10.91 PKM CHEK2
11 Decreased viability GR00342-S-3 10.91 PKM
12 Decreased viability GR00381-A-1 10.91 CHEK1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.63 MLH1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.63 MLH1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.63 BRCA1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.63 BCL2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.63 CDKN1A CHEK1 ATM MLH1 BCL2 BRCA1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.63 CHEK1 CDKN1A
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.63 CHEK1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.63 ATM
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.63 BCL2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.63 CHEK1 BCL2
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.63 CHEK1 MLH1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.63 MLH1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.63 BRCA1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.63 BRCA1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.63 CHEK1
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.63 CHEK1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 10.63 CDKN1A
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.63 BRCA1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.63 BCL2
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.63 CHEK1
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.63 ATM
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.63 BCL2
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.63 BRCA1
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.63 BCL2
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.63 CDKN1A
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.63 BCL2
39 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10 CDKN2A BRCA2 CHEK1 CDKN1A CHEK2 MLH1
40 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10 BRCA2 CHEK1 CDKN1A CHEK2 CDKN2A MLH1
41 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.9 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
42 Increased cell death HMECs cells GR00103-A-0 9.8 BRCA1 CHEK1 EGFR MDM2 PKM PTEN
43 Apoptosis resistance GR00093-A-0 9.76 ATM CDKN2A CHEK2 PTEN
44 Decreased viability after gemcitabine stimulation GR00107-A-2 9.62 ATM CDKN2A CHEK1 PKM
45 Decreased sensitivity to paclitaxel GR00112-A-0 9.43 NF1 PTEN
46 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 CHEK1

MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 CDKN1A CDKN2A CHEK1 CHEK2 EGFR MDM2
2 endocrine/exocrine gland MP:0005379 10.49 BCL2 BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
3 homeostasis/metabolism MP:0005376 10.45 ATM BAX BCL2 BRCA1 BRCA2 CAV1
4 hematopoietic system MP:0005397 10.43 ATM BAX BCL2 BRCA1 BRCA2 CAV1
5 mortality/aging MP:0010768 10.43 BAX BCL2 BRCA1 BRCA2 CAV1 CDKN1A
6 growth/size/body region MP:0005378 10.42 ATM BAX BCL2 BRCA1 BRCA2 CAV1
7 immune system MP:0005387 10.41 CHEK2 EGFR IDH1 MDM2 NF1 PTEN
8 behavior/neurological MP:0005386 10.4 ATM BAX BCL2 BRCA1 BRCA2 CAV1
9 cardiovascular system MP:0005385 10.39 BCL2 BRCA1 CAV1 CDKN1A CDKN2A CHEK1
10 digestive/alimentary MP:0005381 10.38 BCL2 BRCA1 BRCA2 CAV1 CDKN1A MDM2
11 integument MP:0010771 10.37 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
12 neoplasm MP:0002006 10.36 ATM BAX BCL2 BRCA1 BRCA2 CAV1
13 embryo MP:0005380 10.33 CDKN2A CHEK1 EGFR MDM2 NF1 PTEN
14 nervous system MP:0003631 10.25 BAX BCL2 BRCA1 BRCA2 CAV1 CDKN1A
15 adipose tissue MP:0005375 10.22 CDKN1A EGFR PTEN TP53 ATM BCL2
16 muscle MP:0005369 10.2 BAX BCL2 BRCA1 CAV1 CDKN1A CDKN2A
17 limbs/digits/tail MP:0005371 10.16 BAX BRCA1 BRCA2 CDKN1A EGFR MDM2
18 liver/biliary system MP:0005370 10.1 EGFR MDM2 NF1 PTEN TP53 CAV1
19 reproductive system MP:0005389 10.1 ATM BAX BCL2 BRCA1 BRCA2 CAV1
20 hearing/vestibular/ear MP:0005377 10.04 BAX BCL2 CDKN1A EGFR NF1 TP53
21 renal/urinary system MP:0005367 10.02 CAV1 CDKN1A EGFR MDM2 NF1 PTEN
22 pigmentation MP:0001186 9.97 BCL2 BRCA1 CDKN2A EGFR MDM2 NF1
23 respiratory system MP:0005388 9.93 BAX BCL2 BRCA1 CAV1 CDKN1A CDKN2A
24 skeleton MP:0005390 9.73 BAX BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
25 vision/eye MP:0005391 9.28 BAX BCL2 CDKN1A CDKN2A EGFR MLH1

Drugs & Therapeutics for Li-Fraumeni Syndrome

Drugs for Li-Fraumeni Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 1 657-24-9 14219 4091
2 Hypoglycemic Agents Phase 1
3 Anesthetics Early Phase 1

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome) Recruiting NCT01464086 Phase 3
2 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
3 Biomarker Monitoring in TP53 Mutation Carriers Unknown status NCT02289326
4 Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome Recruiting NCT00406445
5 Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes Recruiting NCT02950987 Early Phase 1
6 Clinical and Genetic Studies of Li-Fraumeni Syndrome Recruiting NCT01443468
7 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
8 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
9 Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome Active, not recruiting NCT01737255
10 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Active, not recruiting NCT00040222
11 Li-Fraumeni Syndrome Imaging Study Enrolling by invitation NCT03176836

Search NIH Clinical Center for Li-Fraumeni Syndrome

Cochrane evidence based reviews: li-fraumeni syndrome

Genetic Tests for Li-Fraumeni Syndrome

Genetic tests related to Li-Fraumeni Syndrome:

id Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 29 24 TP53
2 Li-Fraumeni Syndrome 2 29
3 Li-Fraumeni Syndrome 1 29

Anatomical Context for Li-Fraumeni Syndrome

MalaCards organs/tissues related to Li-Fraumeni Syndrome:

39
Breast, Brain, Adrenal Gland, Bone, Lung, Testes, Colon

Publications for Li-Fraumeni Syndrome

Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 272)
id Title Authors Year
1
Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial. ( 28772306 )
2017
2
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. ( 28572266 )
2017
3
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. ( 28818333 )
2017
4
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. ( 27869650 )
2017
5
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome. ( 28303452 )
2017
6
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis. ( 28772291 )
2017
7
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes. ( 28592622 )
2017
8
Primary Cutaneous Leiomyosarcoma Arising in a Patient With Li-Fraumeni Syndrome. A Neoplasm With Unusual Histopathologic Features and Loss of Heterozygosity at TP53 Gene. ( 28475508 )
2017
9
The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome. ( 28154273 )
2017
10
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. ( 28301458 )
2017
11
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO. ( 28137790 )
2017
12
Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. ( 28114597 )
2017
13
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. ( 28279309 )
2017
14
Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. ( 28902083 )
2017
15
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. ( 28772294 )
2017
16
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. ( 27726232 )
2017
17
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. ( 28356770 )
2017
18
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
19
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. ( 28270529 )
2017
20
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. ( 28573494 )
2017
21
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
22
Cancer Screening in Li-Fraumeni Syndrome. ( 28772307 )
2017
23
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. ( 28160093 )
2017
24
Colon Pathology Characteristics in Li-Fraumeni Syndrome. ( 28624650 )
2017
25
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
26
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. ( 28772286 )
2017
27
Does PTEN gene mutation play any role in Li-Fraumeni syndrome. ( 27493922 )
2016
28
Breast Cancer in A Nineteen Year Old Adolescent Female identified with Li-Fraumeni Syndrome. ( 27589880 )
2016
29
Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. ( 27984644 )
2016
30
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. ( 27496084 )
2016
31
Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome. ( 26707089 )
2016
32
Li-Fraumeni syndrome. ( 27622479 )
2016
33
Li-Fraumeni Syndrome and p53 in 2015: Celebrating their Silver Anniversary. ( 26833171 )
2016
34
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing. ( 27516001 )
2016
35
Genetic and functional analysis of a Li Fraumeni syndrome family in China. ( 26818906 )
2016
36
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. ( 27374712 )
2016
37
Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni Syndrome. ( 27297285 )
2016
38
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. ( 27501770 )
2016
39
Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2. ( 27442652 )
2016
40
Biochemical and imaging surveillance in Li-Fraumeni syndrome. ( 27819239 )
2016
41
Biochemical and imaging surveillance in Li-Fraumeni syndrome - Authors' reply. ( 27819240 )
2016
42
Li-Fraumeni Syndrome. ( 27617148 )
2016
43
Hsp90 and PKM2 Drive the Expression of Aromatase in Li-Fraumeni Syndrome Breast Adipose Stromal Cells. ( 27467582 )
2016
44
A rare case of LI-Fraumeni syndrome. ( 27728568 )
2016
45
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient. ( 27523101 )
2016
46
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. ( 26823150 )
2016
47
Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome. ( 26621765 )
2016
48
EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature. ( 25433984 )
2015
49
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. ( 25762628 )
2015
50
Radiation therapy for choroid plexus carcinoma patients with Li-Fraumeni syndrome: advantageous or detrimental? ( 25964589 )
2015

Variations for Li-Fraumeni Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Li-Fraumeni Syndrome:

71 (show top 50) (show all 84)
id Symbol AA change Variation ID SNP ID
1 CHEK2 p.Arg145Trp VAR_008554 rs137853007
2 TP53 p.Met133Thr VAR_005875 rs28934873
3 TP53 p.Ala138Pro VAR_005881 rs28934875
4 TP53 p.Cys141Tyr VAR_005886 rs587781288
5 TP53 p.Pro151Ser VAR_005895 rs28934874
6 TP53 p.Pro151Thr VAR_005896 rs28934874
7 TP53 p.Pro152Leu VAR_005897 rs587782705
8 TP53 p.Arg158Gly VAR_005906
9 TP53 p.Arg158His VAR_005907 rs587782144
10 TP53 p.Val173Met VAR_005926 rs876660754
11 TP53 p.Arg175Gly VAR_005929 rs138729528
12 TP53 p.Arg175Leu VAR_005930 rs28934578
13 TP53 p.Arg175His VAR_005932 rs28934578
14 TP53 p.His193Arg VAR_005948 rs786201838
15 TP53 p.Arg213Gln VAR_005955 rs587778720
16 TP53 p.Tyr220Cys VAR_005957 rs121912666
17 TP53 p.Tyr234Cys VAR_005963 rs587780073
18 TP53 p.Met237Ile VAR_005965 rs587782664
19 TP53 p.Ser241Phe VAR_005969 rs28934573
20 TP53 p.Gly245Cys VAR_005972 rs28934575
21 TP53 p.Gly245Asp VAR_005973 rs121912656
22 TP53 p.Gly245Ser VAR_005974 rs28934575
23 TP53 p.Gly245Val VAR_005975 rs121912656
24 TP53 p.Met246Val VAR_005978 rs483352695
25 TP53 p.Arg248Gln VAR_005983 rs11540652
26 TP53 p.Arg248Trp VAR_005984 rs121912651
27 TP53 p.Leu252Pro VAR_005988 rs121912653
28 TP53 p.Glu258Lys VAR_005991 rs121912652
29 TP53 p.Val272Leu VAR_005992 rs121912657
30 TP53 p.Arg273Cys VAR_005993 rs121913343
31 TP53 p.Arg273Gly VAR_005994
32 TP53 p.Arg273His VAR_005995 rs28934576
33 TP53 p.Cys275Tyr VAR_005998 rs863224451
34 TP53 p.Pro278Leu VAR_006003 rs876659802
35 TP53 p.Pro278Ser VAR_006004
36 TP53 p.Pro278Thr VAR_006005
37 TP53 p.Arg282Trp VAR_006016 rs28934574
38 TP53 p.Arg283Cys VAR_006017 rs149633775
39 TP53 p.Glu285Gln VAR_006024
40 TP53 p.Glu286Ala VAR_006026
41 TP53 p.Pro309Ser VAR_006038
42 TP53 p.Gly325Val VAR_006039 rs28934271
43 TP53 p.Arg337Cys VAR_006041 rs587782529
44 TP53 p.Lys292Ile VAR_015819 rs121912663
45 TP53 p.Tyr163Cys VAR_033035 rs148924904
46 TP53 p.Arg337His VAR_035016 rs121912664
47 TP53 p.Arg213Pro VAR_036506 rs587778720
48 TP53 p.Arg273Leu VAR_036509 rs28934576
49 TP53 p.Pro82Leu VAR_044621 rs534447939
50 TP53 p.Gly105Cys VAR_044661

ClinVar genetic disease variations for Li-Fraumeni Syndrome:

6 (show top 50) (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 CHEK2, 1-BP DEL, 1100C deletion Pathogenic,risk factor
2 CHEK2 NM_007194.3(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh37 Chromosome 22, 29121087: 29121087
3 CHEK2 NM_007194.3(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic/Likely pathogenic rs137853007 GRCh37 Chromosome 22, 29121242: 29121242
4 CHEK2 CHEK2, 1-BP DEL, 1422T deletion Pathogenic
5 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Pathogenic rs121912652 GRCh38 Chromosome 17, 7674191: 7674191
6 TP53 NM_000546.5(TP53): c.215C> G (p.Pro72Arg) single nucleotide variant drug response rs1042522 GRCh38 Chromosome 17, 7676154: 7676154
7 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
8 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
9 TP53 NM_000546.5(TP53): c.755T> C (p.Leu252Pro) single nucleotide variant Pathogenic rs121912653 GRCh37 Chromosome 17, 7577526: 7577526
10 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
11 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh38 Chromosome 17, 7675214: 7675214
12 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
13 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic/Likely pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
14 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh37 Chromosome 17, 7573996: 7573996
15 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
16 TP53 TP53, 1-BP INS, 151C insertion Pathogenic
17 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh37 Chromosome 17, 7578221: 7578222
18 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
19 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Pathogenic/Likely pathogenic rs28934875 GRCh37 Chromosome 17, 7578518: 7578518
20 TP53 NM_000546.5(TP53): c.532delC (p.His178Thrfs) deletion Pathogenic rs863223300 GRCh38 Chromosome 17, 7675080: 7675080
21 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
22 TP53 NM_000546.5(TP53): c.875A> T (p.Lys292Ile) single nucleotide variant Pathogenic rs121912663 GRCh37 Chromosome 17, 7577063: 7577063
23 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
24 TP53 TP53, 1-BP DEL, CODON 257 deletion Pathogenic
25 TP53 TP53, 11-BP DEL/5-BP INS indel Pathogenic
26 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
27 TP53 NM_000546.5(TP53): c.*1175A> C single nucleotide variant risk factor rs78378222 GRCh37 Chromosome 17, 7571752: 7571752
28 TP53 NM_000546.5(TP53): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs397516435 GRCh37 Chromosome 17, 7578263: 7578263
29 TP53 NM_000546.5(TP53): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs397516436 GRCh37 Chromosome 17, 7578212: 7578212
30 TP53 NM_000546.5(TP53): c.77_80delTTCCinsAAGAACGT (p.Leu26Glnfs) indel Likely pathogenic rs397516438 GRCh37 Chromosome 17, 7579716: 7579719
31 TP53 NM_000546.5(TP53): c.920-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397516439 GRCh37 Chromosome 17, 7576928: 7576928
32 TP53 NM_000546.5(TP53): c.736A> G (p.Met246Val) single nucleotide variant Pathogenic/Likely pathogenic rs483352695 GRCh37 Chromosome 17, 7577545: 7577545
33 TP53 NM_000546.5(TP53): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
34 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 GRCh37 Chromosome 17, 7577580: 7577580
35 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587778720 GRCh37 Chromosome 17, 7578211: 7578211
36 TP53 NM_000546.5(TP53): c.422G> A (p.Cys141Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs587781288 GRCh38 Chromosome 17, 7675190: 7675190
37 TP53 NM_000546.5(TP53): c.1101-2A> G single nucleotide variant Pathogenic rs587781664 GRCh37 Chromosome 17, 7573010: 7573010
38 TP53 NM_000546.5(TP53): c.473G> A (p.Arg158His) single nucleotide variant Pathogenic/Likely pathogenic rs587782144 GRCh37 Chromosome 17, 7578457: 7578457
39 TP53 NM_000546.5(TP53): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913344 GRCh37 Chromosome 17, 7577022: 7577022
40 TP53 NM_000546.5(TP53): c.542G> A (p.Arg181His) single nucleotide variant Pathogenic/Likely pathogenic rs397514495 GRCh37 Chromosome 17, 7578388: 7578388
41 TP53 NM_000546.5(TP53): c.1009C> T (p.Arg337Cys) single nucleotide variant Pathogenic rs587782529 GRCh37 Chromosome 17, 7574018: 7574018
42 TP53 NM_000546.5(TP53): c.455C> T (p.Pro152Leu) single nucleotide variant Pathogenic rs587782705 GRCh37 Chromosome 17, 7578475: 7578475
43 TP53 NM_000546.5(TP53): c.267delC (p.Ser90Profs) deletion Likely pathogenic rs587783062 GRCh38 Chromosome 17, 7676102: 7676102
44 TP53 NM_000546.5(TP53): c.722C> G (p.Ser241Cys) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
45 TP53 NM_000546.5(TP53): c.1010G> C (p.Arg337Pro) single nucleotide variant Likely pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
46 TP53 NM_000546.5(TP53): c.375G> A (p.Thr125=) single nucleotide variant Pathogenic rs55863639 GRCh37 Chromosome 17, 7579312: 7579312
47 TP53 NM_000546.5(TP53): c.856G> A (p.Glu286Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786201059 GRCh37 Chromosome 17, 7577082: 7577082
48 TP53 NM_000546.5(TP53): c.1025G> C (p.Arg342Pro) single nucleotide variant Likely pathogenic rs375338359 GRCh38 Chromosome 17, 7670684: 7670684
49 TP53 NM_000546.5(TP53): c.973G> T (p.Gly325Ter) single nucleotide variant Pathogenic rs863224500 GRCh37 Chromosome 17, 7576873: 7576873
50 TP53 NM_000546.5(TP53): c.824G> A (p.Cys275Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs863224451 GRCh38 Chromosome 17, 7673796: 7673796

Cosmic variations for Li-Fraumeni Syndrome:

9 (show top 50) (show all 68)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611A>G p.E204G 5
2 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 5
3 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 5
4 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 5
5 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 5
6 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>T p.G245C 5
7 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 5
8 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 5
9 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.1508G>T p.G503V 5
10 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.214G>A p.A72T 5
11 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.205G>A p.E69K 5
12 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.226G>C p.E76Q 5
13 COSM1235326 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3023C>T p.S1008F 5
14 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1636C>A p.Q546K 5
15 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1633G>A p.E545K 5
16 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1624G>A p.E542K 5
17 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3140A>G p.H1047R 5
18 COSM762 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1625A>T p.E542V 5
19 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.181C>A p.Q61K 5
20 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>A p.G12S 5
21 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>T p.Q61H 5
22 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>T p.G13V 5
23 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>G p.Q61R 5
24 COSM586 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>C p.Q61H 5
25 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 5
26 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 5
27 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>C p.G13R 5
28 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.365T>G p.L122R 5
29 COSM528 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>A p.G13S 5
30 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 5
31 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>T p.Q61L 5
32 COSM521 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 5
33 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>A p.G13D 5
34 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>C p.G12A 5
35 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>C p.G13R 5
36 COSM496 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.181C>A p.Q61K 5
37 COSM481 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 5
38 COSM483 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>T p.G12V 5
39 COSM480 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>A p.G12S 5
40 COSM5702570 FGFR1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.1611G>T p.M537I 5
41 COSM5702566 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.2809C>T p.R937C 5
42 COSM3738459 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5437G>A p.E1813K 5
43 COSM959251 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5113G>A p.E1705K 5
44 COSM3744763 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5428G>T p.D1810Y 5
45 COSM3738451 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5439G>T p.E1813D 5
46 COSM3738549 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5365-1G>T p.? 5
47 COSM959249 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5125G>A p.D1709N 5
48 COSM393242 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.2062C>T p.R688* 5
49 COSM4169595 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5425G>A p.G1809R 5
50 COSM5692 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.134C>A p.S45Y 5

Copy number variations for Li-Fraumeni Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 116393 17 6500000 10700000 Copy number TP53 Li-fraumeni syndrome
2 117991 17 7505821 7531588 Deletion TP53 Li-fraumeni syndrome
3 118109 17 7571720 7590863 Copy number TP53 Li-fraumeni syndrome
4 162983 22 23500000 25900000 Copy number Li-fraumeni syndrome

Expression for Li-Fraumeni Syndrome

Search GEO for disease gene expression data for Li-Fraumeni Syndrome.

Pathways for Li-Fraumeni Syndrome

Pathways related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 88)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
2
Show member pathways
13.93 ATM BAX BCL2 CDKN2A CHEK1 CHEK2
3
Show member pathways
13.91 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
4
Show member pathways
13.54 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
5
Show member pathways
13.48 BAX BCL2 CDKN1A CHEK1 EGFR MDM2
6
Show member pathways
13.29 ATM BRCA1 BRCA2 CHEK1 CHEK2 MLH1
7
Show member pathways
13.11 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
8
Show member pathways
13 ATM BRCA1 BRCA2 CHEK2 MLH1 TP53
9
Show member pathways
12.94 ATM BAX BCL2 CDKN1A CDKN2A MDM2
10
Show member pathways
12.84 ATM BRCA1 BRCA2 CDKN1A CHEK1 CHEK2
11 12.84 ATM BAX BCL2 BRCA1 CDKN1A EGFR
12 12.82 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
13
Show member pathways
12.8 CDKN1A EGFR MDM2 PTEN TP53
14
Show member pathways
12.78 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
15 12.69 ATM BCL2 BRCA1 CDKN1A CDKN2A EGFR
16
Show member pathways
12.66 BAX BCL2 CDKN1A EGFR TP53
17
Show member pathways
12.66 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
18
Show member pathways
12.65 ATM CDKN1A CDKN2A MDM2 TP53
19 12.64 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
20
Show member pathways
12.62 ATM BAX BCL2 CHEK1 CHEK2 EGFR
21 12.59 ATM BAX CDKN1A CDKN2A CHEK1 CHEK2
22
Show member pathways
12.56 CAV1 EGFR MDM2 TP53
23 12.54 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
24
Show member pathways
12.5 BAX CDKN1A MDM2 PTEN TP53
25
Show member pathways
12.5 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
26 12.47 BAX CDKN1A CDKN2A CHEK1 MDM2 PKM
27
Show member pathways
12.42 ATM BRCA1 CHEK2 TP53
28
Show member pathways
12.41 ATM CDKN1A CDKN2A TP53
29 12.41 CAV1 CDKN1A EGFR MDM2 TP53
30
Show member pathways
12.41 BAX BCL2 CDKN1A EGFR MDM2 PTEN
31
Show member pathways
12.38 CDKN1A EGFR MDM2 TP53
32 12.37 BCL2 CDKN1A MDM2 TP53
33
Show member pathways
12.36 ATM BRCA1 BRCA2 CHEK1
34 12.36 ATM BAX CDKN1A MDM2 TP53
35
Show member pathways
12.34 BRCA1 CDKN1A CDKN2A CHEK1 CHEK2
36
Show member pathways
12.34 ATM BAX BCL2 BRCA1 CDKN1A CHEK1
37 12.31 BAX CDKN1A EGFR MLH1 TP53
38 12.29 ATM BAX BCL2 BRCA1 BRCA2 CHEK1
39
Show member pathways
12.26 CAV1 CDKN1A EGFR MDM2 PTEN
40
Show member pathways
12.23 ATM CDKN1A EGFR MDM2 PTEN
41 12.23 ATM BCL2 CDKN1A CDKN2A MDM2 TP53
42 12.18 BAX BCL2 CAV1 CDKN1A EGFR MDM2
43 12.17 ATM BAX BCL2 CDKN1A CDKN2A MDM2
44 12.16 CDKN1A CDKN2A EGFR MDM2 NF1 PTEN
45 12.14 BCL2 CDKN1A CDKN2A MDM2 PTEN TP53
46 12.13 ATM BAX BCL2 CDKN1A CDKN2A CHEK1
47 12.1 BAX BCL2 PTEN TP53
48 12.05 BRCA1 CAV1 CDKN1A EGFR MDM2 PTEN
49
Show member pathways
12.02 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
50
Show member pathways
12.01 ATM BRCA1 BRCA2 CHEK1 CHEK2 TP53

GO Terms for Li-Fraumeni Syndrome

Cellular components related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.93 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
2 nucleus GO:0005634 9.86 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
3 nucleolus GO:0005730 9.83 CDKN1A CDKN2A MDM2 NF1 TP53
4 chromosome, telomeric region GO:0000781 9.54 ATM CHEK1 CHEK2
5 condensed nuclear chromosome GO:0000794 9.5 BRCA1 CHEK1 MLH1
6 pore complex GO:0046930 9.4 BAX BCL2
7 protein complex GO:0043234 9.23 BCL2 BRCA1 BRCA2 CAV1 CDKN1A CHEK1
8 cytoplasm GO:0005737 10.13 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A

Biological processes related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 73)
id Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.99 CDKN1A EGFR IDH1 PTEN
2 negative regulation of cell growth GO:0030308 9.97 BCL2 CDKN1A CDKN2A TP53
3 cellular response to hypoxia GO:0071456 9.95 BCL2 MDM2 PTEN TP53
4 response to toxic substance GO:0009636 9.95 BAX BCL2 CDKN1A MDM2
5 regulation of cell cycle GO:0051726 9.95 ATM BAX BCL2 CDKN1A PTEN
6 regulation of signal transduction by p53 class mediator GO:1901796 9.93 ATM BRCA1 CHEK1 CHEK2 MDM2 TP53
7 liver development GO:0001889 9.92 EGFR NF1 PKM
8 post-embryonic development GO:0009791 9.92 ATM BAX BCL2
9 double-strand break repair via homologous recombination GO:0000724 9.91 ATM BRCA1 BRCA2
10 regulation of protein stability GO:0031647 9.91 BCL2 CDKN2A PTEN
11 peptidyl-threonine phosphorylation GO:0018107 9.9 BCL2 CHEK1 CHEK2
12 cellular response to drug GO:0035690 9.9 CHEK2 EGFR TP53
13 double-strand break repair via nonhomologous end joining GO:0006303 9.9 ATM BRCA1 MLH1
14 double-strand break repair GO:0006302 9.89 BRCA1 BRCA2 CHEK2
15 response to ionizing radiation GO:0010212 9.89 ATM BAX BRCA1
16 protein stabilization GO:0050821 9.88 CDKN1A CHEK2 PTEN
17 ovarian follicle development GO:0001541 9.88 ATM BAX BCL2
18 Ras protein signal transduction GO:0007265 9.88 CDKN1A CDKN2A NF1 TP53
19 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.87 BCL2 CDKN1A PTEN
20 neuron apoptotic process GO:0051402 9.87 ATM BAX BCL2
21 cellular response to organic substance GO:0071310 9.86 BAX BCL2 MDM2
22 response to steroid hormone GO:0048545 9.86 BCL2 IDH1 MDM2
23 positive regulation of neuron apoptotic process GO:0043525 9.86 ATM BAX NF1 TP53
24 DNA synthesis involved in DNA repair GO:0000731 9.85 ATM BRCA1 BRCA2
25 negative regulation of fibroblast proliferation GO:0048147 9.85 BAX NF1 TP53
26 cellular response to DNA damage stimulus GO:0006974 9.85 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
27 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.84 BAX BCL2 NF1
28 intrinsic apoptotic signaling pathway GO:0097193 9.83 BAX CDKN1A TP53
29 cell aging GO:0007569 9.83 BCL2 BRCA2 TP53
30 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.83 BAX BCL2 CAV1 TP53
31 strand displacement GO:0000732 9.82 ATM BRCA1 BRCA2
32 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.81 BRCA2 CDKN1A CHEK2 TP53
33 female gonad development GO:0008585 9.8 ATM BRCA2 IDH1
34 response to X-ray GO:0010165 9.8 BRCA2 CDKN1A TP53
35 response to gamma radiation GO:0010332 9.8 BAX BCL2 BRCA2 CHEK2 TP53
36 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.8 ATM BAX CDKN1A CHEK2 MDM2 TP53
37 apoptotic mitochondrial changes GO:0008637 9.79 BAX BCL2 CDKN2A
38 cellular response to gamma radiation GO:0071480 9.77 ATM CDKN1A CHEK2 MDM2 TP53
39 inner cell mass cell proliferation GO:0001833 9.75 BRCA2 CHEK1
40 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.75 BAX NF1
41 regulation of mitochondrial membrane permeability GO:0046902 9.74 BCL2 TP53
42 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.74 BCL2 CAV1
43 forebrain morphogenesis GO:0048853 9.73 NF1 PTEN
44 meiotic telomere clustering GO:0045141 9.73 ATM MLH1
45 regulation of protein heterodimerization activity GO:0043497 9.73 BAX BCL2
46 regulation of protein homodimerization activity GO:0043496 9.72 BAX BCL2
47 signal transduction by p53 class mediator GO:0072331 9.71 CDKN1A TP53
48 leukocyte homeostasis GO:0001776 9.71 BAX BCL2
49 DNA damage induced protein phosphorylation GO:0006975 9.71 ATM CHEK1 CHEK2
50 chordate embryonic development GO:0043009 9.7 BRCA1 BRCA2

Molecular functions related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.89 BAX BCL2 CAV1 EGFR TP53
2 kinase activity GO:0016301 9.87 ATM CDKN1A CDKN2A CHEK1 CHEK2 EGFR
3 enzyme binding GO:0019899 9.73 BRCA1 CAV1 EGFR MDM2 PTEN TP53
4 protein kinase binding GO:0019901 9.7 CAV1 CDKN1A CDKN2A CHEK2 EGFR PTEN
5 protein phosphatase binding GO:0019903 9.63 BCL2 EGFR TP53
6 identical protein binding GO:0042802 9.61 BAX BCL2 CAV1 CHEK2 EGFR MDM2
7 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.48 CDKN1A CDKN2A
8 BH3 domain binding GO:0051434 9.4 BAX BCL2
9 disordered domain specific binding GO:0097718 9.37 MDM2 TP53
10 ubiquitin protein ligase binding GO:0031625 9.17 BCL2 BRCA1 CDKN1A CHEK2 EGFR MDM2
11 protein binding GO:0005515 10.36 ATM BAX BCL2 BRCA1 BRCA2 CAV1

Sources for Li-Fraumeni Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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