LFS
MCID: LFR001
MIFTS: 71

Li-Fraumeni Syndrome (LFS)

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

Aliases & Classifications for Li-Fraumeni Syndrome

MalaCards integrated aliases for Li-Fraumeni Syndrome:

Name: Li-Fraumeni Syndrome 57 12 76 24 53 25 59 75 37 29 13 13 55 6 44 15 73
Sbla Syndrome 57 12 24 53 25
Sarcoma Family Syndrome of Li and Fraumeni 57 53 25 75
Lfs 57 25 75
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 25
Sarcoma, Breast, Leukaemia and Adrenal Gland Syndrome 12
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 12
Sbla Syndrome Li-Fraumeni-Like Syndrome 75
Li-Fraumeni Syndrome 1 73
Li Fraumeni Syndrome 53
Lifraumeni Syndrome 76
Lfs1 53
Lfl 75

Characteristics:

Orphanet epidemiological data:

59
li-fraumeni syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (United States); Age of onset: All ages; Age of death: any age;

OMIM:

57
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:

24
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 : 57 Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterized by autosomal dominant inheritance and early onset of tumors, multiple tumors within an individual, and multiple affected family members. In contrast to other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types. The most common types are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. Classic LFS is defined as a proband with a sarcoma before the age of 45 years and a first-degree relative with any cancer before the age of 45 years and 1 additional first- or second-degree relative in the same lineage with any cancer before the age of 45 years or a sarcoma at any age (Li et al., 1988). Li-Fraumeni-like syndrome (LFL) is defined as a proband with any childhood cancer, or a sarcoma, brain tumor, or adrenocortical tumor before the age of 45 years, plus a first- or second-degree relative in the same lineage with a typical LFS tumor at any age, and an additional first- or second-degree relative in the same lineage with any cancer before the age of 60 years (Birch et al., 1994). A less restrictive definition of LFL is 2 different LFS-related tumors in first- or second-degree relatives at any age (Eeles, 1995). Approximately 70% of LFS cases and 40% of LFL cases contain germline mutations in the p53 gene on chromosome 17p13.1 (Bachinski et al., 2005). (151623)

MalaCards based summary : Li-Fraumeni Syndrome, also known as sbla syndrome, is related to li-fraumeni syndrome 2 and soft tissue sarcoma. An important gene associated with Li-Fraumeni Syndrome is TP53 (Tumor Protein P53), and among its related pathways/superpathways are MAPK signaling pathway and Cell cycle. The drugs Busulfex and Treanda have been mentioned in the context of this disorder. Affiliated tissues include brain, adrenal gland and bone, and related phenotypes are melanoma and neoplasm of the skin

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 : 53 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.

UniProtKB/Swiss-Prot : 75 Li-Fraumeni syndrome: An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.

Wikipedia : 76 Li�??Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that pre-disposes carriers to... more...

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 225)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 2 34.8 TP53 CHEK2
2 soft tissue sarcoma 32.6 TP53 MDM2 EGFR BCL2
3 medulloblastoma 32.0 TP53 PTEN IDH1 EGFR BRCA2
4 gastric cancer 31.9 BAX BCL2 CDKN1A CDKN2A EGFR MLH1
5 glioblastoma 31.9 TP53 PTEN NF1 MDM2 IDH1 EGFR
6 liposarcoma 30.9 TP53 MDM2 CDKN2A
7 lung cancer susceptibility 3 30.7 TP53 IDH1 EGFR CDKN2A CDKN1A
8 adenocarcinoma 30.5 CDKN2A EGFR MLH1 PTEN TP53
9 oral cancer 30.4 TP53 EGFR CDKN2A
10 small cell carcinoma 30.4 CDKN2A EGFR PTEN TP53
11 malignant peritoneal mesothelioma 30.4 EGFR CDKN2A
12 cowden disease 30.4 PTEN BRCA2 BRCA1
13 gliosarcoma 30.3 EGFR IDH1 PTEN TP53
14 bilateral breast cancer 30.2 ATM BRCA1 BRCA2 CHEK2
15 brain glioma 30.1 TP53 IDH1 EGFR
16 lynch syndrome 30.0 TP53 MLH1 EGFR CDKN2A BRCA2 BRCA1
17 ataxia-telangiectasia 29.8 TP53 CHEK2 CHEK1 CDKN1A BRCA1 ATM
18 gastric adenocarcinoma 29.5 TP53 PTEN MLH1 EGFR CDKN2A BCL2
19 hereditary breast ovarian cancer syndrome 29.5 TP53 PTEN MLH1 CHEK2 BRCA2 BRCA1
20 prostate cancer 29.2 TP53 PTEN MDM2 EGFR CYP19A1 CHEK2
21 ovarian cancer 29.0 TP53 PTEN MLH1 MDM2 EGFR CHEK2
22 lung cancer 28.8 ATM BAX BCL2 CDKN1A CDKN2A CHEK2
23 glioma 28.8 TP53 PTEN NF1 MDM2 IDH1 EGFR
24 colorectal cancer 28.5 TP53 PTEN NF1 MLH1 MDM2 EGFR
25 breast cancer 28.4 TP53 PTEN NF1 MLH1 MDM2 IDH1
26 adrenocortical carcinoma, hereditary 11.8
27 lujan-fryns syndrome 11.5
28 lassa fever 11.4
29 adrenal carcinoma 11.3
30 familial stomach cancer 11.3
31 pilocytic astrocytoma 11.3
32 lujan syndrome 11.1
33 sarcoma 10.5
34 rhabdomyosarcoma 10.4
35 melanoma 10.3
36 choroid plexus cancer 10.3
37 zika virus infection 10.3 TP53 MDM2
38 ring chromosome 7 10.3 TP53 MDM2
39 hereditary site-specific ovarian cancer syndrome 10.3 BRCA1 BRCA2
40 brain ependymoma 10.3 TP53 EGFR
41 angiosarcoma 10.3
42 lymphoma 10.3
43 leiomyosarcoma 10.3
44 adrenal cortical adenocarcinoma 10.3
45 dedifferentiated liposarcoma 10.3 CDKN2A MDM2 TP53
46 verrucous carcinoma 10.3 CDKN2A MDM2 TP53
47 actinic cheilitis 10.2 CDKN1A MDM2 TP53
48 dyskeratosis congenita, autosomal recessive 3 10.2 WRAP53 TP53
49 cancerophobia 10.2 BRCA2 BRCA1
50 lip cancer 10.2 CDKN1A 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:

57
Neoplasia:
lung adenocarcinoma
colon cancer
prostate cancer
wilms tumor
breast cancer
more

Clinical features from OMIM:

151623

Human phenotypes related to Li-Fraumeni Syndrome:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
2 neoplasm of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008069
3 lymphoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002665
4 breast carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0003002
5 neoplasm of the adrenal cortex 59 32 hallmark (90%) Very frequent (99-80%) HP:0100641
6 progressive encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002448
7 osteosarcoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002669
8 neoplasm of the pancreas 59 32 hallmark (90%) Very frequent (99-80%) HP:0002894
9 neoplasm of the nervous system 59 32 hallmark (90%) Very frequent (99-80%) HP:0004375
10 neoplasm of the colon 59 32 hallmark (90%) Very frequent (99-80%) HP:0100273
11 neoplasm 59 Very frequent (99-80%)
12 lung adenocarcinoma 32 HP:0030078
13 colon cancer 32 HP:0003003
14 sarcoma 59 Very frequent (99-80%)
15 adrenocortical carcinoma 32 HP:0006744
16 acute leukemia 32 HP:0002488
17 nephroblastoma 32 HP:0002667
18 soft tissue sarcoma 32 HP:0030448
19 prostate cancer 32 HP:0012125

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

26 (show all 47)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 11 EGFR
2 Decreased viability GR00221-A-1 11 CDKN2A CHEK1 EGFR NF1 PKM
3 Decreased viability GR00221-A-2 11 CHEK1 NF1 BRCA1 CHEK2
4 Decreased viability GR00221-A-3 11 CDKN2A CHEK1 ATM BRCA1 CHEK2
5 Decreased viability GR00221-A-4 11 CDKN2A CHEK1 EGFR NF1 PKM ATM
6 Decreased viability GR00231-A 11 PKM
7 Decreased viability GR00240-S-1 11 CHEK1
8 Decreased viability GR00301-A 11 CHEK1 BRCA1
9 Decreased viability GR00342-S-1 11 PKM
10 Decreased viability GR00342-S-2 11 PKM CHEK2
11 Decreased viability GR00342-S-3 11 PKM
12 Decreased viability GR00381-A-1 11 CHEK1
13 Decreased viability GR00402-S-2 11 CDKN2A CHEK1 EGFR NF1 PKM ATM
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.64 MLH1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.64 MLH1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.64 BRCA1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.64 BCL2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.64 ATM BCL2 BRCA1 CDKN1A CHEK1 MLH1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.64 CDKN1A CHEK1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.64 CHEK1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.64 ATM
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.64 BCL2
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.64 BCL2 CHEK1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.64 MLH1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.64 BRCA1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.64 BRCA1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.64 CHEK1
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.64 CHEK1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 10.64 CDKN1A
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.64 BRCA1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.64 BCL2
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.64 CHEK1
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.64 ATM
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.64 BCL2
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.64 BRCA1
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.64 BCL2
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.64 CDKN1A
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.64 BCL2
39 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
40 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
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 9.78 ATM CDKN2A CHEK2 PTEN
44 Decreased viability after gemcitabine stimulation GR00107-A-2 9.62 ATM CDKN2A CHEK1 PKM
45 Decreased TP53 mRNA expression GR00389-S-5 9.58 ATM CHEK1 TP53
46 Decreased sensitivity to paclitaxel GR00112-A-0 9.46 NF1 PTEN
47 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 CHEK1

MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

46 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
2 hematopoietic system MP:0005397 10.5 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
3 endocrine/exocrine gland MP:0005379 10.49 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
4 immune system MP:0005387 10.48 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
5 homeostasis/metabolism MP:0005376 10.46 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
6 mortality/aging MP:0010768 10.45 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
7 growth/size/body region MP:0005378 10.43 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
8 behavior/neurological MP:0005386 10.4 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
9 cardiovascular system MP:0005385 10.4 ATM BCL2 BRCA1 CDKN1A CDKN2A CHEK1
10 digestive/alimentary MP:0005381 10.38 BCL2 BRCA1 BRCA2 CDKN1A CDKN2A CYP19A1
11 embryo MP:0005380 10.38 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
12 integument MP:0010771 10.38 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
13 neoplasm MP:0002006 10.36 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
14 nervous system MP:0003631 10.28 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
15 adipose tissue MP:0005375 10.23 ATM BCL2 BRCA1 CDKN1A CYP19A1 EGFR
16 muscle MP:0005369 10.22 BAX BCL2 BRCA1 CDKN1A CDKN2A CYP19A1
17 limbs/digits/tail MP:0005371 10.18 BAX BRCA1 BRCA2 CDKN1A EGFR MDM2
18 hearing/vestibular/ear MP:0005377 10.12 BAX BCL2 CDKN1A CYP19A1 EGFR NF1
19 liver/biliary system MP:0005370 10.11 CDKN1A CDKN2A CYP19A1 EGFR MDM2 NF1
20 reproductive system MP:0005389 10.1 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
21 normal MP:0002873 10.06 BRCA1 BRCA2 CYP19A1 EGFR MDM2 NF1
22 pigmentation MP:0001186 10.02 BCL2 BRCA1 CDKN2A CYP19A1 EGFR MDM2
23 renal/urinary system MP:0005367 10.02 BAX BCL2 BRCA1 CDKN1A CYP19A1 EGFR
24 respiratory system MP:0005388 9.85 BAX BRCA1 CDKN1A CDKN2A EGFR IDH1
25 skeleton MP:0005390 9.73 BAX BRCA1 BRCA2 CDKN1A CDKN2A CYP19A1
26 vision/eye MP:0005391 9.32 BAX BCL2 CDKN1A CDKN2A CYP19A1 EGFR

Drugs & Therapeutics for Li-Fraumeni Syndrome

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Busulfex 18 49 BUSULFAN Orphan Medical February 1999
2
Treanda 18 49 BENDAMUSTINE HYDROCHLORIDE Cephalon October 2008

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 14219 4091
2 Hypoglycemic Agents Phase 1
3 Anesthetics Not Applicable

Interventional clinical trials:

(show all 13)
# 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 Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome Not yet recruiting NCT03789175 Phase 1, Phase 2
3 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
4 Biomarker Monitoring in TP53 Mutation Carriers Unknown status NCT02289326
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 Not Applicable
6 Li-Fraumeni Syndrome Imaging Study Enrolling by invitation NCT03176836 Not Applicable
7 Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome Recruiting NCT00406445
8 Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome Completed NCT01737255
9 Clinical and Genetic Studies of Li-Fraumeni Syndrome Recruiting NCT01443468
10 Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System Recruiting NCT01143454
11 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
12 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
13 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222

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 29

Anatomical Context for Li-Fraumeni Syndrome

MalaCards organs/tissues related to Li-Fraumeni Syndrome:

41
Brain, Adrenal Gland, Bone, Testes, Lung, Colon, Skin

Publications for Li-Fraumeni Syndrome

Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 311)
# Title Authors Year
1
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome: Erratum. ( 30489338 )
2019
2
Contribution of de novo and mosaic<i>TP53</i>mutations to Li-Fraumeni syndrome. ( 29070607 )
2018
3
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. ( 29077256 )
2018
4
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. ( 29392648 )
2018
5
Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives. ( 29946497 )
2018
6
Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic <i>TP53</i> Mutation. ( 29752319 )
2018
7
Li-Fraumeni Syndrome-Related Malignancies Involving the Genitourinary Tract: Review of a Single-Institution Experience. ( 29935265 )
2018
8
What Should a Gynecologist Know about Li-Fraumeni Syndrome? Lessons from a Patient Undergoing Hysterectomy for Benign Indications. ( 29945152 )
2018
9
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. ( 29955864 )
2018
10
Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome. ( 29893455 )
2018
11
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome. ( 29416929 )
2018
12
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. ( 29076966 )
2018
13
Radiation-associated Angiosarcoma Mimicking Fallopian Tube High-grade Serous Carcinoma in a Woman With De Novo Li-Fraumeni Syndrome. ( 29620582 )
2018
14
Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma. ( 30196175 )
2018
15
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells. ( 29985349 )
2018
16
A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome? ( 30004834 )
2018
17
Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer. ( 30009566 )
2018
18
Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. ( 30076369 )
2018
19
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. ( 30086788 )
2018
20
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. ( 30107858 )
2018
21
Families' and health care professionals' attitudes towards Li-Fraumeni syndrome testing in children: A systematic review. ( 30191952 )
2018
22
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. ( 30216591 )
2018
23
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals. ( 30238178 )
2018
24
A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome. ( 30239254 )
2018
25
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. ( 30240537 )
2018
26
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. ( 30243621 )
2018
27
Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations. ( 30414230 )
2018
28
Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome. ( 30445420 )
2018
29
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
30
Colon Pathology Characteristics in Li-Fraumeni Syndrome. ( 28624650 )
2017
31
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. ( 28573494 )
2017
32
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? ( 28983852 )
2017
33
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. ( 28160093 )
2017
34
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. ( 27869650 )
2017
35
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
36
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
37
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. ( 28772286 )
2017
38
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. ( 28270529 )
2017
39
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. ( 28356770 )
2017
40
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. ( 28818333 )
2017
41
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. ( 28279309 )
2017
42
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. ( 28572266 )
2017
43
Cancer Screening in Li-Fraumeni Syndrome. ( 28772307 )
2017
44
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. ( 28301458 )
2017
45
Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. ( 28114597 )
2017
46
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. ( 28772294 )
2017
47
Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. ( 28902083 )
2017
48
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. ( 27726232 )
2017
49
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO. ( 28137790 )
2017
50
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes. ( 28592622 )
2017

Variations for Li-Fraumeni Syndrome

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

75 (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 1484)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.4(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 GRCh37 Chromosome 22, 29121242: 29121242
2 CHEK2 NM_007194.4(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 GRCh38 Chromosome 22, 28725254: 28725254
3 TP53 NM_000546.5(TP53): c.215C> G (p.Pro72Arg) single nucleotide variant drug response rs1042522 GRCh38 Chromosome 17, 7676154: 7676154
4 TP53 NM_000546.5(TP53): c.747G> T (p.Arg249Ser) single nucleotide variant Uncertain significance rs28934571 GRCh37 Chromosome 17, 7577534: 7577534
5 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
6 TP53 NM_000546.5(TP53): c.747G> T (p.Arg249Ser) single nucleotide variant Uncertain significance rs28934571 GRCh38 Chromosome 17, 7674216: 7674216
7 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh38 Chromosome 17, 7674221: 7674221
8 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Pathogenic rs121912652 GRCh37 Chromosome 17, 7577509: 7577509
9 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Pathogenic rs121912652 GRCh38 Chromosome 17, 7674191: 7674191
10 TP53 NM_000546.5(TP53): c.770T> A (p.Leu257Gln) single nucleotide variant Uncertain significance rs28934577 GRCh38 Chromosome 17, 7674193: 7674193
11 TP53 TP53, 1-BP DEL, CODON 257 deletion Pathogenic
12 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
13 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
14 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
15 TP53 NM_000546.5(TP53): c.755T> C (p.Leu252Pro) single nucleotide variant Pathogenic rs121912653 GRCh37 Chromosome 17, 7577526: 7577526
16 TP53 NM_000546.5(TP53): c.755T> C (p.Leu252Pro) single nucleotide variant Pathogenic rs121912653 GRCh38 Chromosome 17, 7674208: 7674208
17 TP53 NM_000546.5(TP53): c.215C> G (p.Pro72Arg) single nucleotide variant drug response rs1042522 GRCh37 Chromosome 17, 7579472: 7579472
18 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
19 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 GRCh38 Chromosome 17, 7674238: 7674238
20 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
21 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 GRCh38 Chromosome 17, 7674229: 7674229
22 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
23 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
24 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh37 Chromosome 17, 7578532: 7578532
25 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh38 Chromosome 17, 7675214: 7675214
26 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh38 Chromosome 17, 7675088: 7675088
27 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh37 Chromosome 17, 7573996: 7573996
28 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh38 Chromosome 17, 7670678: 7670678
29 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
30 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh38 Chromosome 17, 7673806: 7673806
31 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Likely pathogenic rs28934875 GRCh37 Chromosome 17, 7578518: 7578518
32 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Likely pathogenic rs28934875 GRCh38 Chromosome 17, 7675200: 7675200
33 TP53 NM_000546.5(TP53): c.532delC (p.His178Thrfs) deletion Pathogenic rs863223300 GRCh38 Chromosome 17, 7675080: 7675080
34 TP53 NM_000546.5(TP53): c.532delC (p.His178Thrfs) deletion Pathogenic rs863223300 GRCh37 Chromosome 17, 7578398: 7578398
35 TP53 NM_000546.5(TP53): c.875A> T (p.Lys292Ile) single nucleotide variant Pathogenic rs121912663 GRCh37 Chromosome 17, 7577063: 7577063
36 TP53 NM_000546.5(TP53): c.875A> T (p.Lys292Ile) single nucleotide variant Pathogenic rs121912663 GRCh38 Chromosome 17, 7673745: 7673745
37 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
38 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh38 Chromosome 17, 7674241: 7674241
39 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh37 Chromosome 17, 7578221: 7578222
40 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh38 Chromosome 17, 7674903: 7674904
41 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28934574 GRCh37 Chromosome 17, 7577094: 7577094
42 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28934574 GRCh38 Chromosome 17, 7673776: 7673776
43 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
44 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
45 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
46 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
47 TP53 NM_000546.5(TP53): c.974G> T (p.Gly325Val) single nucleotide variant Uncertain significance rs121912659 GRCh37 Chromosome 17, 7576872: 7576872
48 TP53 NM_000546.5(TP53): c.974G> T (p.Gly325Val) single nucleotide variant Uncertain significance rs121912659 GRCh38 Chromosome 17, 7673554: 7673554
49 TP53 NM_000546.5(TP53): c.839G> C (p.Arg280Thr) single nucleotide variant Uncertain significance rs121912660 GRCh37 Chromosome 17, 7577099: 7577099
50 TP53 NM_000546.5(TP53): c.839G> C (p.Arg280Thr) single nucleotide variant Uncertain significance rs121912660 GRCh38 Chromosome 17, 7673781: 7673781

Cosmic variations for Li-Fraumeni Syndrome:

9 (show top 50) (show all 155)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6954017 NOTCH2 soft tissue,breast,sarcoma,NS c.1145A>G p.N382S 1:119968196-119968196 17
2 COSM1732355 H3F3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 12
3 COSM3908208 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 12
4 COSM3908209 soft tissue,bone,sarcoma,NS c.355C>T p.R119* 9:77815650-77815650 12
5 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 17:7674863-7674863 5
6 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 5
7 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 5
8 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 5
9 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 17:7674224-7674224 5
10 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>T p.G245C 17:7674230-7674230 5
11 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 5
12 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 5
13 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 5
14 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 5
15 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.961A>T p.K321* 17:7673567-7673567 5
16 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>A p.G245S 17:7674230-7674230 5
17 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611A>G p.E204G 17:7674920-7674920 5
18 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.701A>G p.Y234C 17:7674262-7674262 5
19 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,NS c.76A>G p.M26V 17:72121467-72121467 5
20 COSM6945139 RICTOR soft tissue,striated muscle,rhabdomyosarcoma,NS c.2898-1G>T p.? 5:38952426-38952426 5
21 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,NS c.2277G>T p.Q759H 20:42248779-42248779 5
22 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.205G>A p.E69K 12:112450385-112450385 5
23 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.226G>C p.E76Q 12:112450406-112450406 5
24 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.1508G>T p.G503V 12:112489084-112489084 5
25 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.214G>A p.A72T 12:112450394-112450394 5
26 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.208G>A p.A70T 9:95506593-95506593 5
27 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,NS c.5975G>C p.C1992S 12:132634215-132634215 5
28 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,NS c.2638G>A p.E880K 7:106883041-106883041 5
29 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1636C>A p.Q546K 3:179218306-179218306 5
30 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1633G>A p.E545K 3:179218303-179218303 5
31 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1624G>A p.E542K 3:179218294-179218294 5
32 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3140A>G p.H1047R 3:179234297-179234297 5
33 COSM762 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1625A>T p.E542V 3:179218295-179218295 5
34 COSM1235326 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3023C>T p.S1008F 3:179234180-179234180 5
35 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3195G>C p.E1065D 4:54295197-54295197 5
36 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,NS c.492C>A p.C164* 15:88137534-88137534 5
37 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.181C>A p.Q61K 1:114713909-114713909 5
38 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>T p.Q61H 1:114713907-114713907 5
39 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 1:114716126-114716126 5
40 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>C p.G13R 1:114716124-114716124 5
41 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>G p.Q61R 1:114713908-114713908 5
42 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>A p.G12S 1:114716127-114716127 5
43 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>T p.G13V 1:114716123-114716123 5
44 COSM586 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>C p.Q61H 1:114713907-114713907 5
45 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 1:114716127-114716127 5
46 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.3277T>C p.Y1093H 9:136508280-136508280 5
47 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.7870G>C p.A2624P 17:31357269-31357269 5
48 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.365T>G p.L122R 11:17720147-17720147 5
49 COSM521 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 12:25245350-25245350 5
50 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 12:25245351-25245351 5

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:

37
# 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 97)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
2
Show member pathways
13.95 ATM BAX BCL2 CDKN2A CHEK1 CHEK2
3
Show member pathways
13.92 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
4
Show member pathways
13.57 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
13.22 ATM BAX BCL2 CDKN1A CDKN2A CHEK1
8
Show member pathways
13.16 ATM BAX BCL2 BRCA1 CDKN1A EGFR
9
Show member pathways
13.11 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
10
Show member pathways
13.04 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
11
Show member pathways
13.03 BAX BCL2 CDKN1A EGFR PTEN TP53
12
Show member pathways
13 ATM BRCA1 BRCA2 CHEK2 MLH1 TP53
13 13 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
14
Show member pathways
12.95 ATM BAX BCL2 CDKN1A CDKN2A MDM2
15
Show member pathways
12.92 BAX BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
16
Show member pathways
12.85 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
17
Show member pathways
12.84 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
18
Show member pathways
12.8 CDKN1A EGFR MDM2 PTEN TP53
19
Show member pathways
12.8 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
20 12.7 ATM BCL2 BRCA1 CDKN1A CDKN2A EGFR
21
Show member pathways
12.68 BAX BCL2 CDKN1A EGFR TP53
22
Show member pathways
12.66 ATM CDKN1A CDKN2A MDM2 TP53
23
Show member pathways
12.64 ATM BAX BCL2 CHEK1 CHEK2 EGFR
24 12.63 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
25 12.61 ATM BAX CDKN1A CDKN2A CHEK1 CHEK2
26 12.55 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
27
Show member pathways
12.51 BAX CDKN1A MDM2 PTEN TP53
28 12.49 BAX CDKN1A CDKN2A CHEK1 MDM2 PKM
29
Show member pathways
12.43 ATM BRCA1 CHEK2 TP53
30
Show member pathways
12.43 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
31
Show member pathways
12.42 ATM CDKN1A CDKN2A TP53
32 12.42 BAX BCL2 CDKN1A MDM2 TP53
33
Show member pathways
12.39 BAX BCL2 CDKN1A EGFR MDM2 PTEN
34 12.38 ATM BAX CDKN1A MDM2 TP53
35 12.37 CDKN1A EGFR MDM2 TP53
36 12.37 ATM BAX BCL2 BRCA1 BRCA2 CHEK1
37
Show member pathways
12.36 ATM BRCA1 BRCA2 CHEK1
38
Show member pathways
12.36 BRCA1 CDKN1A CDKN2A CHEK1 CHEK2
39 12.33 BAX BCL2 CDKN1A EGFR MDM2 PTEN
40 12.32 BAX CDKN1A EGFR MLH1 TP53
41 12.32 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
42
Show member pathways
12.24 ATM CDKN1A EGFR MDM2 PTEN
43 12.24 ATM BCL2 CDKN1A CDKN2A MDM2 TP53
44 12.22 BAX BCL2 CDKN1A EGFR MDM2 MLH1
45
Show member pathways
12.21 CDKN1A EGFR MDM2 PTEN
46 12.17 CDKN1A CDKN2A EGFR MDM2 NF1 PTEN
47
Show member pathways
12.16 BAX BCL2 BRCA1 CDKN1A EGFR
48 12.15 BCL2 CDKN1A CDKN2A MDM2 PTEN TP53
49 12.14 ATM BAX BCL2 CDKN1A CDKN2A MDM2
50
Show member pathways
12.13 ATM BAX BCL2 BRCA1 CDKN1A CHEK1

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 9.97 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
2 nucleus GO:0005634 9.89 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
3 chromosome, telomeric region GO:0000781 9.56 ATM CHEK1 CHEK2 WRAP53
4 condensed nuclear chromosome GO:0000794 9.54 BRCA1 CHEK1 MLH1
5 pore complex GO:0046930 9.43 BAX BCL2
6 protein-containing complex GO:0032991 9.23 BCL2 BRCA1 BRCA2 CDKN1A CHEK1 EGFR
7 cytosol GO:0005829 10.22 BAX BCL2 BRCA2 CDKN1A CDKN2A CHEK1
8 cytoplasm GO:0005737 10.22 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 9.99 ATM BAX BCL2 PTEN
2 cell cycle arrest GO:0007050 9.97 ATM CDKN1A CDKN2A TP53
3 response to organic cyclic compound GO:0014070 9.97 CDKN1A EGFR IDH1 PTEN
4 cellular response to hypoxia GO:0071456 9.96 BCL2 MDM2 PTEN TP53
5 negative regulation of cell growth GO:0030308 9.96 BCL2 CDKN1A CDKN2A TP53
6 liver development GO:0001889 9.91 EGFR NF1 PKM
7 response to nutrient GO:0007584 9.91 BRCA2 PKM PTEN
8 regulation of protein stability GO:0031647 9.9 BCL2 CDKN2A PTEN
9 cellular response to drug GO:0035690 9.9 CHEK2 EGFR TP53
10 cellular response to DNA damage stimulus GO:0006974 9.9 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
11 double-strand break repair GO:0006302 9.89 BRCA1 BRCA2 CHEK2
12 double-strand break repair via nonhomologous end joining GO:0006303 9.89 ATM BRCA1 MLH1
13 response to toxic substance GO:0009636 9.89 BAX BCL2 CDKN1A MDM2
14 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.88 BCL2 CDKN1A PTEN
15 positive regulation of neuron apoptotic process GO:0043525 9.87 ATM BAX NF1
16 response to ionizing radiation GO:0010212 9.87 ATM BAX BRCA1
17 cellular response to organic substance GO:0071310 9.86 BAX BCL2 MDM2
18 Ras protein signal transduction GO:0007265 9.85 CDKN1A CDKN2A NF1 TP53
19 regulation of signal transduction by p53 class mediator GO:1901796 9.85 ATM CHEK1 CHEK2 MDM2 TP53
20 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.84 BAX BCL2 TP53
21 DNA damage checkpoint GO:0000077 9.83 ATM CHEK1 CHEK2
22 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.82 BAX BCL2 NF1
23 negative regulation of fibroblast proliferation GO:0048147 9.82 BAX NF1 TP53
24 intrinsic apoptotic signaling pathway GO:0097193 9.81 BAX CDKN1A TP53
25 positive regulation of DNA repair GO:0045739 9.81 BRCA1 EGFR WRAP53
26 response to steroid hormone GO:0048545 9.8 BCL2 IDH1 MDM2
27 cell aging GO:0007569 9.79 BCL2 BRCA2 TP53
28 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.79 BRCA2 CHEK2 TP53
29 cellular response to gamma radiation GO:0071480 9.78 ATM CHEK2 MDM2 TP53
30 female gonad development GO:0008585 9.76 BRCA2 CYP19A1 IDH1
31 regulation of cell-matrix adhesion GO:0001952 9.74 BCL2 NF1
32 inner cell mass cell proliferation GO:0001833 9.74 BRCA2 CHEK1
33 response to arsenic-containing substance GO:0046685 9.74 CDKN1A PTEN
34 apoptotic mitochondrial changes GO:0008637 9.74 BAX BCL2 CDKN2A
35 regulation of mitochondrial membrane permeability GO:0046902 9.73 BCL2 TP53
36 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.73 BRCA1 CHEK1
37 regulation of protein heterodimerization activity GO:0043497 9.73 BAX BCL2
38 amyloid fibril formation GO:1990000 9.73 CDKN2A MDM2
39 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.73 ATM BAX CDKN1A CHEK2 MDM2 TP53
40 forebrain morphogenesis GO:0048853 9.72 NF1 PTEN
41 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.72 EGFR TP53
42 response to gamma radiation GO:0010332 9.72 BAX BCL2 BRCA2 CHEK2 TP53
43 obsolete negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031658 9.71 CDKN2A PTEN
44 prostate gland growth GO:0060736 9.71 CYP19A1 PTEN
45 regulation of protein homodimerization activity GO:0043496 9.71 BAX BCL2
46 leukocyte homeostasis GO:0001776 9.71 BAX BCL2
47 DNA damage induced protein phosphorylation GO:0006975 9.7 ATM CHEK1 CHEK2
48 signal transduction by p53 class mediator GO:0072331 9.69 CDKN1A TP53
49 chordate embryonic development GO:0043009 9.68 BRCA1 BRCA2
50 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.67 BRCA1 BRCA2 CHEK2 TP53

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.88 ATM CDKN1A CHEK1 CHEK2 EGFR PKM
2 protein kinase binding GO:0019901 9.73 CDKN1A CDKN2A CHEK2 EGFR PTEN TP53
3 protein phosphatase binding GO:0019903 9.63 BCL2 EGFR TP53
4 enzyme binding GO:0019899 9.63 BRCA1 EGFR MDM2 MLH1 PTEN TP53
5 ubiquitin protein ligase binding GO:0031625 9.56 BCL2 BRCA1 CDKN1A CHEK2 EGFR MDM2
6 disordered domain specific binding GO:0097718 9.5 CDKN2A MDM2 TP53
7 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.48 CDKN1A CDKN2A
8 identical protein binding GO:0042802 9.4 BAX BCL2 BRCA1 BRCA2 CHEK2 EGFR
9 BH3 domain binding GO:0051434 9.37 BAX BCL2
10 protein binding GO:0005515 10.36 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A

Sources for Li-Fraumeni Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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