MCID: LFR001
MIFTS: 72

Li-Fraumeni Syndrome

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

Aliases & Classifications for Li-Fraumeni Syndrome

MalaCards integrated aliases for Li-Fraumeni Syndrome:

Name: Li-Fraumeni Syndrome 53 12 72 23 49 24 55 71 36 28 13 13 51 41 14 69
Sbla Syndrome 53 12 23 49 24
Sarcoma Family Syndrome of Li and Fraumeni 53 49 24
Lfs 53 24 71
Li-Fraumeni Syndrome 1 28 69
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 24
Sarcoma, Breast, Leukaemia and Adrenal Gland Syndrome 12
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 12
Li Fraumeni Syndrome 49
Lfs1 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
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

OMIM : 53 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)

MalaCards based summary : Li-Fraumeni Syndrome, also known as sbla syndrome, is related to li-fraumeni syndrome 2 and soft tissue sarcoma, and has symptoms including melanoma, neoplasm of the skin and lymphoma. 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 Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and bone, and related phenotypes are Decreased viability and Decreased viability

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.

NIH Rare Diseases : 49 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

Genetics Home Reference : 24 Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

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.

GeneReviews: NBK1311

Related Diseases for Li-Fraumeni Syndrome

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2

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

(show top 50) (show all 204)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 2 35.0 CHEK2 TP53
2 soft tissue sarcoma 32.4 BCL2 EGFR MDM2 TP53
3 pilocytic astrocytoma 31.7 CDKN2A IDH1 NF1 PTEN
4 glioblastoma 31.5 BRCA2 CDKN1A CDKN2A EGFR IDH1 MDM2
5 liposarcoma 30.9 CDKN2A MDM2 TP53
6 leiomyosarcoma 30.8 CHEK2 MDM2 TP53
7 gastric cancer 30.7 BAX BCL2 CDKN1A CDKN2A EGFR MLH1
8 small cell carcinoma 30.5 EGFR PTEN TP53
9 melanoma, cutaneous malignant 1 30.4 CDKN2A PTEN TP53
10 malignant peritoneal mesothelioma 30.4 CDKN2A EGFR
11 gliosarcoma 30.2 EGFR IDH1 PTEN TP53
12 adenocarcinoma 29.9 CDKN1A CDKN2A EGFR MLH1 TP53
13 bilateral breast cancer 29.9 ATM BRCA1 BRCA2 CHEK2
14 lynch syndrome 29.7 BRCA1 BRCA2 CDKN2A MLH1 TP53
15 astrocytoma 29.2 CDKN2A EGFR IDH1 MDM2 NF1 PTEN
16 ataxia-telangiectasia 29.1 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
17 prostate cancer 28.3 BAX BCL2 BRCA1 BRCA2 CDKN1A CHEK2
18 ovarian cancer 27.6 BAX BCL2 BRCA1 BRCA2 CDKN1A CHEK2
19 lung cancer 27.4 ATM BAX BCL2 CDKN1A CDKN2A EGFR
20 breast cancer 25.8 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
21 colorectal cancer 24.9 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
22 adrenocortical carcinoma, hereditary 11.6
23 lujan-fryns syndrome 11.4
24 lassa fever 11.3
25 medulloblastoma 11.2
26 adrenal carcinoma 11.2
27 familial stomach cancer 11.2
28 ring chromosome 7 10.6 MDM2 TP53
29 brain stem astrocytic neoplasm 10.6 CDKN2A TP53
30 hereditary site-specific ovarian cancer syndrome 10.6 BRCA1 BRCA2
31 brca1 hereditary breast and ovarian cancer syndrome 10.6 BRCA1 BRCA2
32 brain ependymoma 10.5 EGFR TP53
33 breast reconstruction 10.5 BRCA1 BRCA2
34 tuberculous salpingitis 10.5 BRCA1 BRCA2
35 nosophobia 10.5 BRCA1 BRCA2
36 dedifferentiated liposarcoma 10.5 CDKN2A MDM2 TP53
37 squamous cell carcinoma of the oropharynx 10.5 CDKN2A TP53
38 cancerophobia 10.5 BRCA1 BRCA2
39 small cell sarcoma 10.5 CDKN2A MDM2 TP53
40 bladder squamous cell carcinoma 10.5 CDKN2A PTEN TP53
41 actinic cheilitis 10.5 CDKN1A MDM2 TP53
42 lip cancer 10.5 CDKN1A MDM2 TP53
43 intracranial chondrosarcoma 10.4 IDH1 TP53
44 uterine corpus serous adenocarcinoma 10.4 BRCA1 BRCA2 TP53
45 fallopian tube adenocarcinoma 10.4 BRCA1 BRCA2 TP53
46 cheilitis 10.4 CDKN1A MDM2 TP53
47 breast-ovarian cancer, familial 1 10.4 BRCA1 BRCA2
48 sarcoma 10.4
49 cerebellar astrocytoma 10.4 IDH1 TP53
50 periosteal osteogenic sarcoma 10.4 IDH1 MDM2 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:

53
Neoplasia:
lung adenocarcinoma
colon cancer
prostate cancer
wilms tumor
breast cancer
more

Clinical features from OMIM:

151623

Human phenotypes related to Li-Fraumeni Syndrome:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 melanoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002861
2 neoplasm of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008069
3 lymphoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0002665
4 breast carcinoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0003002
5 neoplasm of the adrenal cortex 55 31 hallmark (90%) Very frequent (99-80%) HP:0100641
6 progressive encephalopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002448
7 osteosarcoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0002669
8 neoplasm of the pancreas 55 31 hallmark (90%) Very frequent (99-80%) HP:0002894
9 neoplasm of the nervous system 55 31 hallmark (90%) Very frequent (99-80%) HP:0004375
10 neoplasm of the colon 55 31 hallmark (90%) Very frequent (99-80%) HP:0100273
11 neoplasm 55 Very frequent (99-80%)
12 lung adenocarcinoma 31 HP:0030078
13 colon cancer 31 HP:0003003
14 sarcoma 55 Very frequent (99-80%)
15 adrenocortical carcinoma 31 HP:0006744
16 acute leukemia 31 HP:0002488
17 nephroblastoma 31 HP:0002667
18 soft tissue sarcoma 31 HP:0030448
19 prostate neoplasm 31 HP:0100787
20 prostate cancer 31 HP:0012125

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

25 (show all 46)
# 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 CHEK1 CDKN2A EGFR NF1 PKM
3 Decreased viability GR00221-A-2 10.91 CHEK1 CHEK2 NF1 BRCA1
4 Decreased viability GR00221-A-3 10.91 CDKN2A CHEK1 CHEK2 ATM BRCA1
5 Decreased viability GR00221-A-4 10.91 CHEK1 CHEK2 CDKN2A EGFR NF1 PKM
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 CHEK2 PKM
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 CDKN1A CHEK1
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 TP53 ATM BAX BCL2 BRCA1 BRCA2
40 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10 TP53 ATM BAX BCL2 BRCA1 BRCA2
41 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.9 CDKN1A CHEK1 CHEK2 MDM2 MLH1 TP53
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 PKM ATM CDKN2A CHEK1
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:

43 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.48 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
2 endocrine/exocrine gland MP:0005379 10.46 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
3 homeostasis/metabolism MP:0005376 10.42 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
4 mortality/aging MP:0010768 10.41 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
5 hematopoietic system MP:0005397 10.4 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
6 growth/size/body region MP:0005378 10.39 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
7 immune system MP:0005387 10.38 CHEK2 EGFR IDH1 MDM2 NF1 PTEN
8 embryo MP:0005380 10.37 BCL2 BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
9 behavior/neurological MP:0005386 10.36 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
10 cardiovascular system MP:0005385 10.35 ATM BCL2 BRCA1 CDKN1A CDKN2A CHEK1
11 digestive/alimentary MP:0005381 10.34 BCL2 BRCA1 BRCA2 CDKN1A CDKN2A EGFR
12 integument MP:0010771 10.34 BRCA1 BRCA2 CDKN1A CDKN2A CHEK1 EGFR
13 neoplasm MP:0002006 10.34 CDKN1A CDKN2A CHEK1 CHEK2 EGFR MDM2
14 nervous system MP:0003631 10.22 CDKN1A CDKN2A CHEK2 EGFR MDM2 NF1
15 adipose tissue MP:0005375 10.17 ATM BCL2 BRCA1 CDKN1A EGFR PTEN
16 limbs/digits/tail MP:0005371 10.16 BAX BRCA1 BRCA2 CDKN1A EGFR MDM2
17 muscle MP:0005369 10.16 BAX BCL2 BRCA1 CDKN1A CDKN2A EGFR
18 reproductive system MP:0005389 10.07 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
19 hearing/vestibular/ear MP:0005377 10.04 NF1 TP53 BAX BCL2 CDKN1A EGFR
20 liver/biliary system MP:0005370 10.04 CDKN1A CDKN2A EGFR MDM2 NF1 PTEN
21 pigmentation MP:0001186 9.97 BCL2 BRCA1 CDKN2A EGFR MDM2 NF1
22 renal/urinary system MP:0005367 9.97 BAX BCL2 BRCA1 CDKN1A EGFR MDM2
23 respiratory system MP:0005388 9.85 BAX BRCA1 CDKN1A CDKN2A EGFR IDH1
24 skeleton MP:0005390 9.7 BAX BRCA1 BRCA2 CDKN1A CDKN2A EGFR
25 vision/eye MP:0005391 9.28 MLH1 NF1 PTEN TP53 BAX BCL2

Drugs & Therapeutics for Li-Fraumeni Syndrome

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


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

Interventional clinical trials:

(show all 11)

# 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) Unknown status 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 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
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 Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome Recruiting NCT00406445
7 Clinical and Genetic Studies of Li-Fraumeni Syndrome Recruiting NCT01443468
8 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
9 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
10 Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome Active, not recruiting NCT01737255
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:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 28
2 Li-Fraumeni Syndrome 1 28 TP53

Anatomical Context for Li-Fraumeni Syndrome

MalaCards organs/tissues related to Li-Fraumeni Syndrome:

38
Breast, Brain, Bone, Adrenal Gland, Lung, Testes, Prostate

Publications for Li-Fraumeni Syndrome

Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 281)
# Title Authors Year
1
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. ( 29077256 )
2018
2
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. ( 29392648 )
2018
3
Contribution of de novo and mosaic<i>TP53</i>mutations to Li-Fraumeni syndrome. ( 29070607 )
2018
4
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. ( 29076966 )
2018
5
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome. ( 29416929 )
2018
6
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. ( 28772294 )
2017
7
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. ( 28270529 )
2017
8
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. ( 28279309 )
2017
9
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
10
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. ( 28572266 )
2017
11
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis. ( 28772291 )
2017
12
Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial. ( 28772306 )
2017
13
Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic. ( 28988289 )
2017
14
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? ( 28983852 )
2017
15
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes. ( 28592622 )
2017
16
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. ( 27869650 )
2017
17
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
18
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. ( 27726232 )
2017
19
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. ( 28818333 )
2017
20
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. ( 28301458 )
2017
21
Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. ( 28902083 )
2017
22
The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome. ( 28154273 )
2017
23
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO. ( 28137790 )
2017
24
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. ( 28160093 )
2017
25
Atypical cutaneous melanocytic tumours arising in two patients with Li-Fraumeni syndrome. ( 29108654 )
2017
26
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
27
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. ( 28573494 )
2017
28
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
29
Is Li-Fraumeni syndrome really much more common? ( 29091331 )
2017
30
Cancer Screening in Li-Fraumeni Syndrome. ( 28772307 )
2017
31
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome. ( 28303452 )
2017
32
Colon Pathology Characteristics in Li-Fraumeni Syndrome. ( 28624650 )
2017
33
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. ( 28356770 )
2017
34
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. ( 28772286 )
2017
35
Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. ( 28114597 )
2017
36
Does PTEN gene mutation play any role in Li-Fraumeni syndrome. ( 27493922 )
2016
37
Genetic and functional analysis of a Li Fraumeni syndrome family in China. ( 26818906 )
2016
38
Breast Cancer in A Nineteen Year Old Adolescent Female identified with Li-Fraumeni Syndrome. ( 27589880 )
2016
39
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. ( 27374712 )
2016
40
Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome. ( 26621765 )
2016
41
Li-Fraumeni Syndrome and p53 in 2015: Celebrating their Silver Anniversary. ( 26833171 )
2016
42
Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. ( 27984644 )
2016
43
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient. ( 27523101 )
2016
44
A rare case of LI-Fraumeni syndrome. ( 27728568 )
2016
45
Li-Fraumeni Syndrome. ( 27617148 )
2016
46
Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome. ( 26707089 )
2016
47
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. ( 27501770 )
2016
48
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. ( 26823150 )
2016
49
Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2. ( 27442652 )
2016
50
Biochemical and imaging surveillance in Li-Fraumeni syndrome. ( 27819239 )
2016

Variations for Li-Fraumeni Syndrome

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

71 (show top 50) (show all 83)
# Symbol AA change Variation ID SNP ID
1 TP53 p.Met133Thr VAR_005875 rs28934873
2 TP53 p.Ala138Pro VAR_005881 rs28934875
3 TP53 p.Cys141Tyr VAR_005886 rs587781288
4 TP53 p.Pro151Ser VAR_005895 rs28934874
5 TP53 p.Pro151Thr VAR_005896 rs28934874
6 TP53 p.Pro152Leu VAR_005897 rs587782705
7 TP53 p.Arg158Gly VAR_005906
8 TP53 p.Arg158His VAR_005907 rs587782144
9 TP53 p.Val173Met VAR_005926 rs876660754
10 TP53 p.Arg175Gly VAR_005929 rs138729528
11 TP53 p.Arg175Leu VAR_005930 rs28934578
12 TP53 p.Arg175His VAR_005932 rs28934578
13 TP53 p.His193Arg VAR_005948 rs786201838
14 TP53 p.Arg213Gln VAR_005955 rs587778720
15 TP53 p.Tyr220Cys VAR_005957 rs121912666
16 TP53 p.Tyr234Cys VAR_005963 rs587780073
17 TP53 p.Met237Ile VAR_005965 rs587782664
18 TP53 p.Ser241Phe VAR_005969 rs28934573
19 TP53 p.Gly245Cys VAR_005972 rs28934575
20 TP53 p.Gly245Asp VAR_005973 rs121912656
21 TP53 p.Gly245Ser VAR_005974 rs28934575
22 TP53 p.Gly245Val VAR_005975 rs121912656
23 TP53 p.Met246Val VAR_005978 rs483352695
24 TP53 p.Arg248Gln VAR_005983 rs11540652
25 TP53 p.Arg248Trp VAR_005984 rs121912651
26 TP53 p.Leu252Pro VAR_005988 rs121912653
27 TP53 p.Glu258Lys VAR_005991 rs121912652
28 TP53 p.Val272Leu VAR_005992 rs121912657
29 TP53 p.Arg273Cys VAR_005993 rs121913343
30 TP53 p.Arg273Gly VAR_005994
31 TP53 p.Arg273His VAR_005995 rs28934576
32 TP53 p.Cys275Tyr VAR_005998 rs863224451
33 TP53 p.Pro278Leu VAR_006003 rs876659802
34 TP53 p.Pro278Ser VAR_006004
35 TP53 p.Pro278Thr VAR_006005
36 TP53 p.Arg282Trp VAR_006016 rs28934574
37 TP53 p.Arg283Cys VAR_006017 rs149633775
38 TP53 p.Glu285Gln VAR_006024
39 TP53 p.Glu286Ala VAR_006026
40 TP53 p.Pro309Ser VAR_006038
41 TP53 p.Gly325Val VAR_006039 rs121912659
42 TP53 p.Arg337Cys VAR_006041 rs587782529
43 TP53 p.Lys292Ile VAR_015819 rs121912663
44 TP53 p.Tyr163Cys VAR_033035 rs148924904
45 TP53 p.Arg337His VAR_035016 rs121912664
46 TP53 p.Arg213Pro VAR_036506 rs587778720
47 TP53 p.Arg273Leu VAR_036509 rs28934576
48 TP53 p.Pro82Leu VAR_044621 rs534447939
49 TP53 p.Gly105Cys VAR_044661
50 TP53 p.Lys132Glu VAR_044740 rs747342068

ClinVar genetic disease variations for Li-Fraumeni Syndrome:

6 (show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 TP53, 1-BP INS, 151C insertion Pathogenic
2 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh37 Chromosome 17, 7578221: 7578222
3 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
4 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Pathogenic rs121912652 GRCh37 Chromosome 17, 7577509: 7577509
5 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
6 TP53 NM_000546.5(TP53): c.755T> C (p.Leu252Pro) single nucleotide variant Pathogenic rs121912653 GRCh37 Chromosome 17, 7577526: 7577526
7 TP53 NM_000546.5(TP53): c.215C> G (p.Pro72Arg) single nucleotide variant drug response rs1042522 GRCh37 Chromosome 17, 7579472: 7579472
8 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
9 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
10 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
11 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Pathogenic/Likely pathogenic rs28934875 GRCh38 Chromosome 17, 7675200: 7675200
12 TP53 NM_000546.5(TP53): c.532delC (p.His178Thrfs) deletion Pathogenic rs863223300 GRCh38 Chromosome 17, 7675080: 7675080
13 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh37 Chromosome 17, 7578532: 7578532
14 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
15 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Pathogenic/Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
16 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
17 TP53 TP53, 1-BP DEL, CODON 257 deletion Pathogenic
18 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic/Likely pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
19 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
20 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh37 Chromosome 17, 7573996: 7573996
21 TP53 NM_000546.5(TP53): c.875A> T (p.Lys292Ile) single nucleotide variant Pathogenic rs121912663 GRCh37 Chromosome 17, 7577063: 7577063
22 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
23 TP53 TP53, 11-BP DEL/5-BP INS indel Pathogenic
24 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
25 TP53 NM_000546.5(TP53): c.*1175A> C single nucleotide variant risk factor rs78378222 GRCh37 Chromosome 17, 7571752: 7571752
26 TP53 NM_000546.5(TP53): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs397516435 GRCh37 Chromosome 17, 7578263: 7578263
27 TP53 NM_000546.5(TP53): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs397516436 GRCh37 Chromosome 17, 7578212: 7578212
28 TP53 NM_000546.5(TP53): c.77_80delTTCCinsAAGAACGT (p.Leu26Glnfs) indel Pathogenic/Likely pathogenic rs397516438 GRCh37 Chromosome 17, 7579716: 7579719
29 TP53 NM_000546.5(TP53): c.920-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397516439 GRCh37 Chromosome 17, 7576928: 7576928
30 TP53 NM_000546.5(TP53): c.892G> T (p.Glu298Ter) single nucleotide variant Pathogenic rs201744589 GRCh37 Chromosome 17, 7577046: 7577046
31 TP53 NM_000546.5(TP53): c.736A> G (p.Met246Val) single nucleotide variant Pathogenic/Likely pathogenic rs483352695 GRCh37 Chromosome 17, 7577545: 7577545
32 TP53 NM_000546.5(TP53): c.488A> G (p.Tyr163Cys) single nucleotide variant Pathogenic/Likely pathogenic rs148924904 GRCh37 Chromosome 17, 7578442: 7578442
33 TP53 NM_000546.5(TP53): c.535C> T (p.His179Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs587780070 GRCh37 Chromosome 17, 7578395: 7578395
34 TP53 NM_000546.5(TP53): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
35 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 GRCh37 Chromosome 17, 7577580: 7577580
36 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587778720 GRCh38 Chromosome 17, 7674893: 7674893
37 TP53 NM_000546.5(TP53): c.422G> A (p.Cys141Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs587781288 GRCh38 Chromosome 17, 7675190: 7675190
38 TP53 NM_000546.5(TP53): c.1101-2A> G single nucleotide variant Pathogenic rs587781664 GRCh37 Chromosome 17, 7573010: 7573010
39 TP53 NM_000546.5(TP53): c.473G> A (p.Arg158His) single nucleotide variant Pathogenic/Likely pathogenic rs587782144 GRCh37 Chromosome 17, 7578457: 7578457
40 TP53 NM_000546.5(TP53): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913344 GRCh37 Chromosome 17, 7577022: 7577022
41 TP53 NM_000546.5(TP53): c.542G> A (p.Arg181His) single nucleotide variant Pathogenic/Likely pathogenic rs397514495 GRCh37 Chromosome 17, 7578388: 7578388
42 TP53 NM_000546.5(TP53): c.1009C> T (p.Arg337Cys) single nucleotide variant Pathogenic rs587782529 GRCh37 Chromosome 17, 7574018: 7574018
43 TP53 NM_000546.5(TP53): c.455C> T (p.Pro152Leu) single nucleotide variant Pathogenic rs587782705 GRCh37 Chromosome 17, 7578475: 7578475
44 TP53 NM_000546.5(TP53): c.267delC (p.Ser90Profs) deletion Likely pathogenic rs587783062 GRCh37 Chromosome 17, 7579420: 7579420
45 TP53 NM_000546.5(TP53): c.722C> G (p.Ser241Cys) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
46 TP53 NM_000546.5(TP53): c.1010G> C (p.Arg337Pro) single nucleotide variant Likely pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
47 TP53 NM_000546.5(TP53): c.375G> A (p.Thr125=) single nucleotide variant Pathogenic rs55863639 GRCh37 Chromosome 17, 7579312: 7579312
48 TP53 NM_000546.5(TP53): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs730882029 GRCh38 Chromosome 17, 7670685: 7670685
49 TP53 NM_000546.5(TP53): c.216_217insC (p.Val73Argfs) insertion Pathogenic rs730882018 GRCh38 Chromosome 17, 7676153: 7676153
50 TP53 NM_000546.5(TP53): c.856G> A (p.Glu286Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786201059 GRCh37 Chromosome 17, 7577082: 7577082

Cosmic variations for Li-Fraumeni Syndrome:

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

Copy number variations for Li-Fraumeni Syndrome from CNVD:

7
# 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 KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Cell cycle hsa04110
3 p53 signaling pathway hsa04115
4 Apoptosis hsa04210
5 Wnt signaling pathway hsa04310
6 Pathways in cancer hsa05200

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

(show top 50) (show all 92)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 ATM BAX BCL2 CDKN2A CHEK1 CHEK2
2
Show member pathways
13.94 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
3
Show member pathways
13.92 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
4
Show member pathways
13.55 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
5
Show member pathways
13.49 BAX BCL2 CDKN1A CHEK1 EGFR MDM2
6
Show member pathways
13.3 ATM BRCA1 BRCA2 CHEK1 CHEK2 MLH1
7
Show member pathways
13.15 ATM BAX BCL2 BRCA1 CDKN1A EGFR
8
Show member pathways
13.13 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
9
Show member pathways
13.11 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
10
Show member pathways
13 ATM BRCA1 BRCA2 CHEK2 MLH1 TP53
11 13 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
12
Show member pathways
12.95 ATM BAX BCL2 CDKN1A CDKN2A MDM2
13
Show member pathways
12.92 BAX BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
14
Show member pathways
12.85 ATM BRCA1 BRCA2 CDKN1A CHEK1 CHEK2
15
Show member pathways
12.8 CDKN1A EGFR MDM2 PTEN TP53
16
Show member pathways
12.8 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
17
Show member pathways
12.74 BAX BCL2 CDKN1A CDKN2A EGFR MDM2
18 12.7 ATM BCL2 BRCA1 CDKN1A CDKN2A EGFR
19
Show member pathways
12.67 BAX BCL2 CDKN1A EGFR TP53
20
Show member pathways
12.65 BAX BCL2 CDKN1A PTEN TP53
21
Show member pathways
12.65 ATM CDKN1A CDKN2A MDM2 TP53
22 12.65 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
23
Show member pathways
12.63 ATM BAX BCL2 CHEK1 CHEK2 EGFR
24 12.6 ATM BAX CDKN1A CDKN2A CHEK1 CHEK2
25 12.55 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
26
Show member pathways
12.5 BAX CDKN1A MDM2 PTEN TP53
27 12.48 BAX CDKN1A CDKN2A CHEK1 MDM2 PKM
28
Show member pathways
12.46 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
29
Show member pathways
12.43 ATM BRCA1 CHEK2 TP53
30
Show member pathways
12.42 ATM CDKN1A CDKN2A TP53
31
Show member pathways
12.39 BAX BCL2 CDKN1A EGFR MDM2 PTEN
32 12.38 ATM BAX CDKN1A MDM2 TP53
33 12.37 BCL2 CDKN1A MDM2 TP53
34 12.37 CDKN1A EGFR MDM2 TP53
35
Show member pathways
12.36 ATM BRCA1 BRCA2 CHEK1
36
Show member pathways
12.35 BRCA1 CDKN1A CDKN2A CHEK1 CHEK2
37
Show member pathways
12.35 BAX BRCA2 CDKN1A CDKN2A EGFR MDM2
38
Show member pathways
12.34 ATM BAX BCL2 BRCA1 CDKN1A CHEK1
39 12.33 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
40 12.32 BAX CDKN1A EGFR MLH1 TP53
41 12.29 ATM BAX BCL2 BRCA1 BRCA2 CHEK1
42
Show member pathways
12.24 ATM CDKN1A EGFR MDM2 PTEN
43 12.24 ATM BCL2 CDKN1A CDKN2A MDM2 TP53
44 12.23 BAX BCL2 CDKN1A EGFR MDM2 MLH1
45
Show member pathways
12.2 CDKN1A EGFR MDM2 PTEN
46 12.17 CDKN1A CDKN2A EGFR MDM2 NF1 PTEN
47 12.16 ATM BAX BCL2 CDKN1A CDKN2A MDM2
48 12.14 BCL2 CDKN1A CDKN2A MDM2 PTEN TP53
49 12.12 ATM BAX BCL2 CDKN1A CDKN2A CHEK1
50 12.1 BAX BCL2 PTEN TP53

GO Terms for Li-Fraumeni Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.93 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
2 nucleolus GO:0005730 9.91 ATM CDKN1A CDKN2A MDM2 NF1 TP53
3 nucleus GO:0005634 9.86 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
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 CDKN1A CHEK1 EGFR
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 83)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.99 BCL2 EGFR IDH1 TP53
2 negative regulation of cell growth GO:0030308 9.96 BCL2 CDKN1A CDKN2A TP53
3 cellular response to hypoxia GO:0071456 9.95 BCL2 MDM2 PTEN TP53
4 regulation of cell cycle GO:0051726 9.95 ATM BAX BCL2 CDKN1A PTEN
5 response to toxic substance GO:0009636 9.94 BAX BCL2 CDKN1A MDM2
6 liver development GO:0001889 9.93 EGFR NF1 PKM
7 response to organic cyclic compound GO:0014070 9.93 CDKN1A EGFR IDH1 PTEN TP53
8 regulation of signal transduction by p53 class mediator GO:1901796 9.93 ATM BRCA1 CHEK1 CHEK2 MDM2 TP53
9 post-embryonic development GO:0009791 9.92 ATM BAX BCL2
10 double-strand break repair via homologous recombination GO:0000724 9.92 ATM BRCA1 BRCA2
11 peptidyl-threonine phosphorylation GO:0018107 9.91 BCL2 CHEK1 CHEK2
12 regulation of protein stability GO:0031647 9.91 BCL2 CDKN2A PTEN
13 cellular response to drug GO:0035690 9.91 CHEK2 EGFR TP53
14 double-strand break repair via nonhomologous end joining GO:0006303 9.9 ATM BRCA1 MLH1
15 double-strand break repair GO:0006302 9.9 BRCA1 BRCA2 CHEK2
16 response to ionizing radiation GO:0010212 9.9 ATM BAX BRCA1
17 protein kinase B signaling GO:0043491 9.89 CDKN1A MDM2 PTEN
18 cellular response to heat GO:0034605 9.89 CDKN1A NF1 TP53
19 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.88 BCL2 CDKN1A PTEN
20 Ras protein signal transduction GO:0007265 9.88 CDKN1A CDKN2A NF1 TP53
21 ovarian follicle development GO:0001541 9.87 ATM BAX BCL2
22 positive regulation of cell cycle GO:0045787 9.87 CHEK1 MDM2 TP53
23 neuron apoptotic process GO:0051402 9.87 ATM BAX BCL2
24 cellular response to organic substance GO:0071310 9.86 BAX BCL2 MDM2
25 DNA synthesis involved in DNA repair GO:0000731 9.86 ATM BRCA1 BRCA2
26 positive regulation of neuron apoptotic process GO:0043525 9.86 ATM BAX NF1 TP53
27 response to steroid hormone GO:0048545 9.85 BCL2 IDH1 MDM2
28 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.85 BAX BCL2 TP53
29 negative regulation of fibroblast proliferation GO:0048147 9.85 BAX NF1 TP53
30 cellular response to DNA damage stimulus GO:0006974 9.85 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
31 intrinsic apoptotic signaling pathway GO:0097193 9.83 BAX CDKN1A TP53
32 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.83 BAX BCL2 NF1
33 cell aging GO:0007569 9.83 BCL2 BRCA2 TP53
34 strand displacement GO:0000732 9.81 ATM BRCA1 BRCA2
35 female gonad development GO:0008585 9.8 ATM BRCA2 IDH1
36 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.8 BRCA2 CDKN1A CHEK2 TP53
37 response to gamma radiation GO:0010332 9.8 BAX BCL2 BRCA2 CHEK2 TP53
38 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.8 ATM BAX CDKN1A CHEK2 MDM2 TP53
39 response to X-ray GO:0010165 9.79 BRCA2 CDKN1A TP53
40 apoptotic mitochondrial changes GO:0008637 9.79 BAX BCL2 CDKN2A
41 cellular response to gamma radiation GO:0071480 9.77 ATM CDKN1A CHEK2 MDM2 TP53
42 response to arsenic-containing substance GO:0046685 9.76 CDKN1A PTEN
43 determination of adult lifespan GO:0008340 9.76 ATM TP53
44 regulation of cell-matrix adhesion GO:0001952 9.76 BCL2 NF1
45 regulation of mitochondrial membrane permeability GO:0046902 9.76 BCL2 TP53
46 regulation of synaptic transmission, GABAergic GO:0032228 9.76 NF1 PTEN
47 oocyte development GO:0048599 9.75 ATM BCL2
48 inner cell mass cell proliferation GO:0001833 9.75 BRCA2 CHEK1
49 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.75 BAX NF1
50 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.75 BRCA1 CHEK1

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.8 BRCA1 EGFR MDM2 PTEN TP53
2 protein kinase binding GO:0019901 9.73 CDKN1A CDKN2A CHEK2 EGFR PTEN TP53
3 kinase activity GO:0016301 9.7 ATM CDKN1A CDKN2A CHEK1 CHEK2 EGFR
4 protein phosphatase binding GO:0019903 9.61 BCL2 EGFR TP53
5 disordered domain specific binding GO:0097718 9.5 CDKN2A MDM2 TP53
6 ubiquitin protein ligase binding GO:0031625 9.5 BCL2 BRCA1 CDKN1A CHEK2 EGFR MDM2
7 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.46 CDKN1A CDKN2A
8 BH3 domain binding GO:0051434 9.37 BAX BCL2
9 identical protein binding GO:0042802 9.32 BAX BCL2 BRCA2 CHEK2 EGFR IDH1

Sources for Li-Fraumeni Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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