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LFS
MCID: LFR001
MIFTS: 70

Li-Fraumeni Syndrome (LFS)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Li-Fraumeni Syndrome

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MalaCards integrated aliases for Li-Fraumeni Syndrome:

Name: Li-Fraumeni Syndrome 58 12 77 25 54 26 60 76 38 30 13 13 56 6 45 15 74
Sbla Syndrome 58 12 25 54 26
Sarcoma Family Syndrome of Li and Fraumeni 58 54 26 76
Lfs 58 26 76
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 26
Sarcoma, Breast, Leukaemia and Adrenal Gland Syndrome 12
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 12
Sbla Syndrome Li-Fraumeni-Like Syndrome 76
Li-Fraumeni Syndrome 1 74
Li Fraumeni Syndrome 54
Lfs1 54
Lfl 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
increased risk of developing multiple primary cancers
early age of onset
penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers
female mutation carriers have earlier age at onset compared to male mutation carriers
gestational choriocarcinoma is seen in female partners of lfs patients after parental-fetal transmission of germline tp53 mutation from male carriers


HPO:

33
li-fraumeni syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Endocrine diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare endocrine diseases


Sources

Summaries for Li-Fraumeni Syndrome

About this section
OMIM : 58 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 Nicotinamide and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and adrenal gland, and related phenotypes are neoplasm of the skin and lymphoma

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 : 26 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 : 54 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 : 76 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 : 77 Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that pre-disposes carriers to... more...

GeneReviews: NBK1311
Sources

Related Diseases for Li-Fraumeni Syndrome

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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 236)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 2 35.1 CHEK2 TP53
2 soft tissue sarcoma 33.1 EGFR MDM2 TP53
3 medulloblastoma 32.0 BRCA2 EGFR IDH1 PTEN TP53
4 gastric cancer 31.8 BAX CDKN1A CDKN2A EGFR MLH1 PTEN
5 glioblastoma 31.6 BRCA2 CDKN1A CDKN2A EGFR IDH1 MDM2
6 liposarcoma 31.1 CDKN2A MDM2 TP53
7 lung cancer susceptibility 3 30.7 CDKN1A CDKN2A EGFR IDH1 TP53
8 oral cancer 30.5 CDKN2A EGFR TP53
9 skin melanoma 30.5 CDKN1A CDKN2A MDM2 TP53
10 malignant peritoneal mesothelioma 30.5 CDKN2A EGFR
11 small cell carcinoma 30.5 CDKN2A EGFR PTEN TP53
12 gliosarcoma 30.4 EGFR IDH1 PTEN TP53
13 adenocarcinoma 30.4 CDKN2A EGFR MLH1 PTEN TP53
14 brain glioma 30.2 EGFR IDH1 TP53
15 bilateral breast cancer 30.2 ATM BRCA1 BRCA2 CHEK2
16 lynch syndrome 29.8 BRCA1 BRCA2 CDKN2A EGFR MLH1 TP53
17 ataxia-telangiectasia 29.6 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
18 hepatocellular carcinoma 29.5 BAX CDKN1A CDKN2A EGFR IDH1 PTEN
19 gastric adenocarcinoma 29.5 BAX CDKN2A EGFR MLH1 PTEN TP53
20 hereditary breast ovarian cancer syndrome 29.1 ATM BRCA1 BRCA2 CHEK2 MLH1 PTEN
21 prostate cancer 29.1 BAX BRCA1 BRCA2 CAV1 CDKN1A CHEK2
22 glioma 28.5 BAX BRCA2 CDKN1A CDKN2A EGFR IDH1
23 ovarian cancer 28.5 ATM BAX BRCA1 BRCA2 CDKN1A CHEK2
24 lung cancer 28.1 ATM BAX CAV1 CDKN1A CDKN2A CHEK2
25 colorectal cancer 27.8 BAX BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
26 breast cancer 27.2 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
27 adrenocortical carcinoma, hereditary 11.8
28 lujan-fryns syndrome 11.6
29 lassa fever 11.4
30 adrenal carcinoma 11.4
31 familial stomach cancer 11.4
32 pilocytic astrocytoma 11.4
33 lujan syndrome 11.1
34 sarcoma 10.5
35 ring chromosome 7 10.5 MDM2 TP53
36 zika virus infection 10.5 MDM2 TP53
37 hereditary site-specific ovarian cancer syndrome 10.5 BRCA1 BRCA2
38 rhabdomyosarcoma 10.5
39 brain ependymoma 10.4 EGFR TP53
40 melanoma 10.4
41 dyskeratosis congenita, autosomal recessive 3 10.4 TP53 WRAP53
42 dedifferentiated liposarcoma 10.4 CDKN2A MDM2 TP53
43 verrucous carcinoma 10.4 CDKN2A MDM2 TP53
44 tuberculous salpingitis 10.4 BRCA1 BRCA2
45 actinic cheilitis 10.4 CDKN1A MDM2 TP53
46 nosophobia 10.4 BRCA1 BRCA2
47 lip cancer 10.4 CDKN1A MDM2 TP53
48 cancerophobia 10.4 BRCA1 BRCA2
49 intracranial chondrosarcoma 10.4 IDH1 TP53
50 anthrax disease 10.4

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



Diseases related to Li-Fraumeni Syndrome
Sources

Symptoms & Phenotypes for Li-Fraumeni Syndrome

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Human phenotypes related to Li-Fraumeni Syndrome:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neoplasm of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008069
2 lymphoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002665
3 breast carcinoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0003002
4 neoplasm of the adrenal cortex 60 33 hallmark (90%) Very frequent (99-80%) HP:0100641
5 progressive encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002448
6 osteosarcoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002669
7 neoplasm of the pancreas 60 33 hallmark (90%) Very frequent (99-80%) HP:0002894
8 neoplasm of the nervous system 60 33 hallmark (90%) Very frequent (99-80%) HP:0004375
9 neoplasm of the colon 60 33 hallmark (90%) Very frequent (99-80%) HP:0100273
10 melanoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002861
11 neoplasm 60 Very frequent (99-80%)
12 lung adenocarcinoma 33 HP:0030078
13 colon cancer 33 HP:0003003
14 sarcoma 60 Very frequent (99-80%)
15 adrenocortical carcinoma 33 HP:0006744
16 acute leukemia 33 HP:0002488
17 nephroblastoma 33 HP:0002667
18 prostate cancer 33 HP:0012125
19 soft tissue sarcoma 33 HP:0030448

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
lung adenocarcinoma
colon cancer
prostate cancer
wilms tumor
breast cancer
more

Clinical features from OMIM:

151623

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

27 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 11.04 EGFR
2 Decreased viability GR00221-A-1 11.04 CDKN2A CHEK1 EGFR NF1 PKM
3 Decreased viability GR00221-A-2 11.04 CHEK1 NF1 BRCA1 CHEK2
4 Decreased viability GR00221-A-3 11.04 CDKN2A CHEK1 ATM BRCA1 CHEK2
5 Decreased viability GR00221-A-4 11.04 CDKN2A CHEK1 EGFR NF1 PKM ATM
6 Decreased viability GR00231-A 11.04 PKM
7 Decreased viability GR00240-S-1 11.04 CHEK1
8 Decreased viability GR00301-A 11.04 CHEK1 BRCA1
9 Decreased viability GR00342-S-1 11.04 PKM
10 Decreased viability GR00342-S-2 11.04 PKM CHEK2
11 Decreased viability GR00342-S-3 11.04 PKM
12 Decreased viability GR00381-A-1 11.04 CHEK1
13 Decreased viability GR00402-S-2 11.04 CDKN2A CHEK1 EGFR NF1 PKM ATM
14 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.97 ATM BAX BRCA1 BRCA2 CDKN1A CDKN2A
15 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.97 ATM BAX BRCA1 BRCA2 CDKN1A CDKN2A
16 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.96 ATM BAX BRCA1 BRCA2 CDKN1A CHEK1
17 Increased cell death HMECs cells GR00103-A-0 9.87 BRCA1 CHEK1 EGFR MDM2 PKM PTEN
18 Apoptosis resistance GR00093-A-0 9.78 ATM CDKN2A CHEK2 PTEN
19 Reduced mammosphere formation GR00396-S 9.7 ATM CAV1 CHEK1 EGFR MDM2 PKM
20 Decreased viability after gemcitabine stimulation GR00107-A-2 9.67 ATM CDKN2A CHEK1 PKM
21 Decreased TP53 mRNA expression GR00389-S-5 9.61 ATM CHEK1 TP53
22 Decreased sensitivity to paclitaxel GR00112-A-0 9.46 NF1 PTEN
23 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 CHEK1

MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

47 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
2 hematopoietic system MP:0005397 10.5 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
3 endocrine/exocrine gland MP:0005379 10.49 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
4 homeostasis/metabolism MP:0005376 10.46 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
5 immune system MP:0005387 10.45 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
6 mortality/aging MP:0010768 10.45 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
7 growth/size/body region MP:0005378 10.43 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
8 behavior/neurological MP:0005386 10.4 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
9 cardiovascular system MP:0005385 10.4 ATM BRCA1 CAV1 CDKN1A CDKN2A CHEK1
10 digestive/alimentary MP:0005381 10.38 BRCA1 BRCA2 CAV1 CDKN1A CDKN2A CYP19A1
11 integument MP:0010771 10.38 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
12 neoplasm MP:0002006 10.36 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
13 embryo MP:0005380 10.34 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
14 nervous system MP:0003631 10.28 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
15 adipose tissue MP:0005375 10.23 ATM BRCA1 CAV1 CDKN1A CYP19A1 EGFR
16 muscle MP:0005369 10.22 BAX BRCA1 CAV1 CDKN1A CDKN2A CYP19A1
17 limbs/digits/tail MP:0005371 10.18 BAX BRCA1 BRCA2 CDKN1A EGFR MDM2
18 liver/biliary system MP:0005370 10.16 CAV1 CDKN1A CDKN2A CYP19A1 EGFR MDM2
19 reproductive system MP:0005389 10.1 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
20 normal MP:0002873 10.06 BRCA1 BRCA2 CYP19A1 EGFR MDM2 NF1
21 hearing/vestibular/ear MP:0005377 10.05 BAX CDKN1A CYP19A1 EGFR NF1 TP53
22 renal/urinary system MP:0005367 10.02 BAX BRCA1 CAV1 CDKN1A CYP19A1 EGFR
23 pigmentation MP:0001186 9.97 BRCA1 CDKN2A CYP19A1 EGFR MDM2 NF1
24 respiratory system MP:0005388 9.9 BAX BRCA1 CAV1 CDKN1A CDKN2A EGFR
25 skeleton MP:0005390 9.77 BAX BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
26 vision/eye MP:0005391 9.28 BAX CDKN1A CDKN2A CYP19A1 EGFR MLH1
Sources

Drugs & Therapeutics for Li-Fraumeni Syndrome

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 1, Phase 2,Phase 2 98-92-0 936
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2,Phase 2 59-67-6 938
6 Lipid Regulating Agents Phase 1, Phase 2
7 Antimetabolites Phase 1, Phase 2
8 Vitamins Phase 1, Phase 2
9 Vitamin B Complex Phase 1, Phase 2
10 Trace Elements Phase 1, Phase 2
11 Folate Phase 1, Phase 2
12 Micronutrients Phase 1, Phase 2
13 Vasodilator Agents Phase 1, Phase 2
14 Nicotinic Acids Phase 1, Phase 2
15 Hypolipidemic Agents Phase 1, Phase 2
16 Vitamin B3 Phase 1, Phase 2
17 Nutrients Phase 1, Phase 2
18 Vitamin B9 Phase 1, Phase 2
19
Phosphocreatine Nutraceutical Phase 1, Phase 2 67-07-2 587
20
Metformin Approved Phase 1 657-24-9 14219 4091
21 Hypoglycemic Agents Phase 1
22 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 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 Enrolling by invitation 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

Sources

Genetic Tests for Li-Fraumeni Syndrome

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Genetic tests related to Li-Fraumeni Syndrome:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 30
Sources

Anatomical Context for Li-Fraumeni Syndrome

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MalaCards organs/tissues related to Li-Fraumeni Syndrome:

42
Breast, Brain, Adrenal Gland, Bone, Lung, Colon, Prostate
Sources

Publications for Li-Fraumeni Syndrome

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Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 342)
# Title Authors Year
1
Early-Onset Colorectal Cancer in Li Fraumeni Syndrome Patients: Is It Really Enough to Justify Early Colon Cancer Screening? ( 30981786 )
2019
2
Families' and health care professionals' attitudes towards Li-Fraumeni syndrome testing in children: A systematic review. ( 30191952 )
2019
3
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals. ( 30238178 )
2019
4
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. ( 30243621 )
2019
5
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 )
2019
6
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome: Erratum. ( 30489338 )
2019
7
Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence. ( 30591002 )
2019
8
Li-Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature. ( 30653764 )
2019
9
Li Fraumeni syndrome. ( 30709544 )
2019
10
Hematologic malignancies and Li-Fraumeni syndrome. ( 30709875 )
2019
11
Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome. ( 30719841 )
2019
12
A rare case of multiple cutaneous melanomas in Li-Fraumeni syndrome: A coincidental association or a component of the syndrome? ( 30809791 )
2019
13
Management of orbital rhabdomyosarcoma in a child with Li-Fraumeni syndrome. ( 30974170 )
2019
14
Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. ( 30974190 )
2019
15
Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma. ( 30196175 )
2018
16
Radiation-associated Angiosarcoma Mimicking Fallopian Tube High-grade Serous Carcinoma in a Woman With De Novo Li-Fraumeni Syndrome. ( 29620582 )
2018
17
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 )
2018
18
Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. ( 28902083 )
2018
19
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 )
2018
20
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. ( 29070607 )
2018
21
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. ( 29076966 )
2018
22
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. ( 29077256 )
2018
23
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. ( 29392648 )
2018
24
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome. ( 29416929 )
2018
25
Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic TP53 Mutation. ( 29752319 )
2018
26
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
27
Li-Fraumeni Syndrome-related Malignancies Involving the Genitourinary Tract: Review of a Single-institution Experience. ( 29935265 )
2018
28
What Should a Gynecologist Know about Li-Fraumeni Syndrome? Lessons from a Patient Undergoing Hysterectomy for Benign Indications. ( 29945152 )
2018
29
Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives. ( 29946497 )
2018
30
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. ( 29955864 )
2018
31
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells. ( 29985349 )
2018
32
A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome? ( 30004834 )
2018
33
Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer. ( 30009566 )
2018
34
Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. ( 30076369 )
2018
35
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. ( 30086788 )
2018
36
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. ( 30107858 )
2018
37
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. ( 30216591 )
2018
38
A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome. ( 30239254 )
2018
39
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. ( 30240537 )
2018
40
Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome. ( 30445420 )
2018
41
Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family. ( 30588330 )
2018
42
Colon Pathology Characteristics in Li-Fraumeni Syndrome. ( 28624650 )
2018
43
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? ( 28983852 )
2017
44
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient. ( 27523101 )
2017
45
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. ( 28772294 )
2017
46
Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial. ( 28772306 )
2017
47
Cancer Screening in Li-Fraumeni Syndrome. ( 28772307 )
2017
48
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. ( 28818333 )
2017
49
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
50
Is Li-Fraumeni syndrome really much more common? ( 29091331 )
2017
Sources

Variations for Li-Fraumeni Syndrome

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

76 (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 rs17849781
35 TP53 p.Pro278Thr VAR_006005 rs17849781
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 rs105751998
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 1488)
# 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.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
4 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh38 Chromosome 17, 7674221: 7674221
5 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121912652 GRCh37 Chromosome 17, 7577509: 7577509
6 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121912652 GRCh38 Chromosome 17, 7674191: 7674191
7 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
8 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
9 TP53 NM_000546.5(TP53): c.755T> C (p.Leu252Pro) single nucleotide variant Pathogenic rs121912653 GRCh37 Chromosome 17, 7577526: 7577526
10 TP53 NM_000546.5(TP53): c.755T> C (p.Leu252Pro) single nucleotide variant Pathogenic rs121912653 GRCh38 Chromosome 17, 7674208: 7674208
11 TP53 NM_000546.5(TP53): c.215C> G (p.Pro72Arg) single nucleotide variant drug response rs1042522 GRCh37 Chromosome 17, 7579472: 7579472
12 TP53 NM_000546.5(TP53): c.215C> G (p.Pro72Arg) single nucleotide variant drug response rs1042522 GRCh38 Chromosome 17, 7676154: 7676154
13 TP53 NM_000546.5(TP53): c.747G> T (p.Arg249Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs28934571 GRCh37 Chromosome 17, 7577534: 7577534
14 TP53 NM_000546.5(TP53): c.747G> T (p.Arg249Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs28934571 GRCh38 Chromosome 17, 7674216: 7674216
15 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
16 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 GRCh38 Chromosome 17, 7674238: 7674238
17 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
18 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 GRCh38 Chromosome 17, 7674229: 7674229
19 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
20 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
21 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh37 Chromosome 17, 7578532: 7578532
22 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh38 Chromosome 17, 7675214: 7675214
23 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
24 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh38 Chromosome 17, 7673806: 7673806
25 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
26 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh38 Chromosome 17, 7674241: 7674241
27 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh37 Chromosome 17, 7578221: 7578222
28 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh38 Chromosome 17, 7674903: 7674904
29 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28934574 GRCh37 Chromosome 17, 7577094: 7577094
30 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28934574 GRCh38 Chromosome 17, 7673776: 7673776
31 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
32 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
33 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
34 TP53 NM_000546.5(TP53): c.974G> T (p.Gly325Val) single nucleotide variant Uncertain significance rs121912659 GRCh37 Chromosome 17, 7576872: 7576872
35 TP53 NM_000546.5(TP53): c.974G> T (p.Gly325Val) single nucleotide variant Uncertain significance rs121912659 GRCh38 Chromosome 17, 7673554: 7673554
36 TP53 NM_000546.5(TP53): c.839G> C (p.Arg280Thr) single nucleotide variant Uncertain significance rs121912660 GRCh37 Chromosome 17, 7577099: 7577099
37 TP53 NM_000546.5(TP53): c.839G> C (p.Arg280Thr) single nucleotide variant Uncertain significance rs121912660 GRCh38 Chromosome 17, 7673781: 7673781
38 TP53 NM_000546.5(TP53): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
39 TP53 NM_000546.5(TP53): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs28934874 GRCh38 Chromosome 17, 7675161: 7675161
40 TP53 NM_000546.5(TP53): c.770T> A (p.Leu257Gln) single nucleotide variant Uncertain significance rs28934577 GRCh38 Chromosome 17, 7674193: 7674193
41 TP53 TP53, 1-BP DEL, CODON 257 deletion Pathogenic
42 TP53 NM_000546.5(TP53): c.451C> T (p.Pro151Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
43 TP53 NM_000546.5(TP53): c.451C> T (p.Pro151Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh38 Chromosome 17, 7675161: 7675161
44 TP53 NM_000546.5(TP53): c.770T> A (p.Leu257Gln) single nucleotide variant Uncertain significance rs28934577 GRCh37 Chromosome 17, 7577511: 7577511
45 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
46 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh38 Chromosome 17, 7675088: 7675088
47 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh37 Chromosome 17, 7573996: 7573996
48 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh38 Chromosome 17, 7670678: 7670678
49 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Likely pathogenic rs28934875 GRCh37 Chromosome 17, 7578518: 7578518
50 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Likely pathogenic rs28934875 GRCh38 Chromosome 17, 7675200: 7675200

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 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611A>G p.E204G 17:7674920-7674920 0
2 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 17:7674863-7674863 0
3 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 0
4 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 0
5 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 17:7674224-7674224 0
6 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>T p.G245C 17:7674230-7674230 0
7 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
8 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 0
9 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 0
10 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 0
11 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.961A>T p.K321* 17:7673567-7673567 0
12 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>A p.G245S 17:7674230-7674230 0
13 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.701A>G p.Y234C 17:7674262-7674262 0
14 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 0
15 COSM6986214 SOX9 soft tissue,striated muscle,rhabdomyosarcoma,NS c.76A>G p.M26V 17:72121467-72121467 0
16 COSM6945139 RICTOR soft tissue,striated muscle,rhabdomyosarcoma,NS c.2898-1G>T p.? 5:38952426-38952426 0
17 COSM6986215 PTPRT soft tissue,striated muscle,rhabdomyosarcoma,NS c.2277G>T p.Q759H 20:42248779-42248779 0
18 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.226G>C p.E76Q 12:112450406-112450406 0
19 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.1508G>T p.G503V 12:112489084-112489084 0
20 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.214G>A p.A72T 12:112450394-112450394 0
21 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.205G>A p.E69K 12:112450385-112450385 0
22 COSM6986208 PTCH1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.208G>A p.A70T 9:95506593-95506593 0
23 COSM6910708 POLE soft tissue,striated muscle,rhabdomyosarcoma,NS c.5975G>C p.C1992S 12:132634215-132634215 0
24 COSM1083818 PIK3CG soft tissue,striated muscle,rhabdomyosarcoma,NS c.2638G>A p.E880K 7:106883041-106883041 0
25 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1636C>A p.Q546K 3:179218306-179218306 0
26 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1633G>A p.E545K 3:179218303-179218303 0
27 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1624G>A p.E542K 3:179218294-179218294 0
28 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3140A>G p.H1047R 3:179234297-179234297 0
29 COSM762 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1625A>T p.E542V 3:179218295-179218295 0
30 COSM1235326 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3023C>T p.S1008F 3:179234180-179234180 0
31 COSM6914067 PDGFRA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3195G>C p.E1065D 4:54295197-54295197 0
32 COSM6964921 NTRK3 soft tissue,striated muscle,rhabdomyosarcoma,NS c.492C>A p.C164* 15:88137534-88137534 0
33 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.181C>A p.Q61K 1:114713909-114713909 0
34 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>T p.G13V 1:114716123-114716123 0
35 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>G p.Q61R 1:114713908-114713908 0
36 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>T p.Q61H 1:114713907-114713907 0
37 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 1:114716126-114716126 0
38 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>C p.G13R 1:114716124-114716124 0
39 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>A p.G12S 1:114716127-114716127 0
40 COSM586 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>C p.Q61H 1:114713907-114713907 0
41 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 1:114716127-114716127 0
42 COSM6954017 NOTCH2 soft tissue,breast,sarcoma,NS c.1145A>G p.N382S 1:119968196-119968196 0
43 COSM6910706 NOTCH1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.3277T>C p.Y1093H 9:136508280-136508280 0
44 COSM6933086 NF1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.7870G>C p.A2624P 17:31357269-31357269 0
45 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.365T>G p.L122R 11:17720147-17720147 0
46 COSM521 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 12:25245350-25245350 0
47 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 12:25245351-25245351 0
48 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>A p.G13D 12:25245347-25245347 0
49 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>C p.G12A 12:25245350-25245350 0
50 COSM528 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>A p.G13S 12:25245348-25245348 0

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
Sources

Expression for Li-Fraumeni Syndrome

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

Pathways for Li-Fraumeni Syndrome

About this section

Pathways related to Li-Fraumeni Syndrome according to KEGG:

38
# 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 86)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 65
Show member pathways
 13.96 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
2
Gene Expression 67
Show member pathways
 13.91 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
3
Cell Cycle, Mitotic 67
Show member pathways
 13.56 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
4
DNA Double-Strand Break Repair 67
Show member pathways
 13.29 ATM BRCA1 BRCA2 CHEK1 CHEK2 MLH1
5
PI3K-Akt signaling pathway 38
Show member pathways
 13.13 ATM BAX BRCA1 CDKN1A EGFR MDM2
6
Human cytomegalovirus infection 38
Show member pathways
 13.11 ATM BAX CDKN1A CDKN2A CHEK1 EGFR
7
Regulation of TP53 Activity 67
Show member pathways
 13.08 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
8
Endometrial cancer 38
Show member pathways
 13.02 BAX BRCA2 CDKN1A CDKN2A EGFR MDM2
9
TCR Signaling (Qiagen) 65
Show member pathways
 13 ATM BRCA1 BRCA2 CHEK2 MLH1 TP53
10
Pathways in cancer 38
12.98 BAX BRCA2 CDKN1A CDKN2A EGFR MDM2
11
Apoptosis Modulation and Signaling 1
Show member pathways
 12.91 ATM BAX CDKN1A CDKN2A MDM2 TP53
12
Gastric cancer 38
Show member pathways
 12.9 BAX BRCA1 BRCA2 CDKN1A CDKN2A EGFR
13
Chks in Checkpoint Regulation 65
Show member pathways
 12.83 ATM BAX BRCA1 BRCA2 CDKN1A CHEK1
14
Downstream signaling events of B Cell Receptor (BCR) 67
Show member pathways
 12.79 CDKN1A EGFR MDM2 PTEN TP53
15
Cell Cycle Checkpoints 67
Show member pathways
 12.79 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
16
Glioma 38
Show member pathways
 12.77 ATM BAX BRCA1 BRCA2 CDKN1A CDKN2A
17
Mitotic G1-G1/S phases 67
Show member pathways
 12.66 ATM CDKN1A CDKN2A MDM2 TP53
18
MicroRNAs in cancer 38
12.66 ATM BRCA1 CDKN1A CDKN2A EGFR MDM2
19
Apoptosis Pathway 73
Show member pathways
 12.6 ATM BAX CHEK1 CHEK2 EGFR MDM2
20
DNA Damage 4
12.57 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
21
Cell cycle 38 1
12.53 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
22
Human T-cell leukemia virus 1 infection 38
12.52 ATM BAX CDKN1A CDKN2A CHEK1 CHEK2
23
Development IGF-1 receptor signaling 23
Show member pathways
 12.51 BAX CDKN1A MDM2 PTEN TP53
24
Viral carcinogenesis 38
12.46 BAX CDKN1A CDKN2A CHEK1 MDM2 PKM
25
DNA Double Strand Break Response 67
Show member pathways
 12.42 ATM BRCA1 CHEK2 TP53
26
Cyclins and Cell Cycle Regulation 65
Show member pathways
 12.41 ATM CDKN1A CDKN2A TP53
27
Proteoglycans in cancer 38
12.41 CAV1 CDKN1A EGFR MDM2 TP53
28
Transcriptional misregulation in cancer 38
12.38 ATM BAX CDKN1A MDM2 TP53
29
Homologous DNA Pairing and Strand Exchange 67
Show member pathways
 12.35 ATM BRCA1 BRCA2 CHEK1
30
Cell cycle Role of SCF complex in cell cycle regulation 23
Show member pathways
 12.35 BRCA1 CDKN1A CDKN2A CHEK1 CHEK2
31
MAPK Signaling: Mitogen Stimulation Pathway 66
Show member pathways
 12.35 BAX CDKN1A EGFR MDM2 PTEN TP53
32
Colorectal Cancer Metastasis 65
12.32 BAX CDKN1A EGFR MLH1 TP53
33
DNA Damage Response 1
Show member pathways
 12.32 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
34
AKT Signaling Pathway 68
12.3 BAX CDKN1A EGFR MDM2 PTEN TP53
35
Cellular senescence (KEGG) 38
12.3 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
36
p53 Signaling 65
Show member pathways
 12.3 ATM BAX BRCA1 CDKN1A CHEK1 CHEK2
37
Transcription Androgen Receptor nuclear signaling 23
Show member pathways
 12.26 CAV1 CDKN1A EGFR MDM2 PTEN
38
FoxO signaling pathway 38
Show member pathways
 12.23 ATM CDKN1A EGFR MDM2 PTEN
39
Direct p53 effectors 1
12.2 BAX CAV1 CDKN1A EGFR MDM2 MLH1
40
SMAD Signaling Network 65
12.19 ATM CDKN1A CDKN2A MDM2 TP53
41
DNA Damage Response (only ATM dependent) 1
12.15 ATM BAX CDKN1A CDKN2A MDM2 PTEN
42
Glioblastoma Multiforme 65
12.13 CDKN1A CDKN2A EGFR MDM2 NF1 PTEN
43
Senescence and Autophagy in Cancer 1
12.11 CDKN1A CDKN2A MDM2 PTEN TP53
44
Androgen receptor signaling pathway 1
12.03 BRCA1 CAV1 CDKN1A EGFR MDM2 PTEN
45
Small cell lung cancer 38
11.99 BAX CDKN1A PTEN TP53
46
BRCA1 Pathway 65
Show member pathways
 11.99 ATM BRCA1 BRCA2 CHEK1 CHEK2 TP53
47
ATM Pathway 65
Show member pathways
 11.99 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
48
Retinoblastoma (RB) in Cancer 1
11.97 CDKN1A CHEK1 MDM2 TP53
49
Glucocorticoid receptor regulatory network 1
11.93 BAX CDKN1A MDM2 TP53
50
Bladder cancer 1 38
11.93 CDKN1A CDKN2A EGFR MDM2 TP53
Sources

GO Terms for Li-Fraumeni Syndrome

About this section

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

# Name GO ID Score Top Affiliating Genes
1 condensed nuclear chromosome GO:0000794 9.54 BRCA1 CHEK1 MLH1
2 chromosome, telomeric region GO:0000781 9.26 ATM CHEK1 CHEK2 WRAP53
3 protein-containing complex GO:0032991 9.23 BRCA1 BRCA2 CAV1 CDKN1A CHEK1 EGFR
4 cytoplasm GO:0005737 10.16 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
5 nucleoplasm GO:0005654 10.1 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
6 nucleus GO:0005634 10.06 ATM BAX BRCA1 BRCA2 CDKN1A CDKN2A

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

(show top 50) (show all 53)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.97 BRCA1 CHEK1 EGFR NF1
2 response to hypoxia GO:0001666 9.97 ATM CAV1 NF1 PKM
3 protein stabilization GO:0050821 9.96 CDKN1A CDKN2A CHEK2 PTEN
4 cell cycle arrest GO:0007050 9.93 ATM CDKN1A CDKN2A TP53
5 response to organic cyclic compound GO:0014070 9.93 CDKN1A EGFR IDH1 PTEN
6 response to organic substance GO:0010033 9.89 CDKN1A PKM PTEN
7 liver development GO:0001889 9.88 EGFR NF1 PKM
8 cellular response to drug GO:0035690 9.86 CHEK2 EGFR TP53
9 double-strand break repair GO:0006302 9.86 BRCA1 BRCA2 CHEK2
10 Ras protein signal transduction GO:0007265 9.86 CDKN1A CDKN2A NF1 TP53
11 double-strand break repair via nonhomologous end joining GO:0006303 9.85 ATM BRCA1 MLH1
12 positive regulation of neuron apoptotic process GO:0043525 9.83 ATM BAX NF1
13 response to ionizing radiation GO:0010212 9.82 ATM BAX BRCA1
14 regulation of signal transduction by p53 class mediator GO:1901796 9.8 ATM CHEK1 CHEK2 MDM2 TP53
15 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.79 BAX CAV1 TP53
16 DNA damage checkpoint GO:0000077 9.78 ATM CHEK1 CHEK2
17 negative regulation of fibroblast proliferation GO:0048147 9.77 BAX NF1 TP53
18 intrinsic apoptotic signaling pathway GO:0097193 9.77 BAX CDKN1A TP53
19 positive regulation of DNA repair GO:0045739 9.76 BRCA1 EGFR WRAP53
20 response to gamma radiation GO:0010332 9.76 BAX BRCA2 CHEK2 TP53
21 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.75 BRCA2 CHEK2 TP53
22 female gonad development GO:0008585 9.74 BRCA2 CYP19A1 IDH1
23 cellular response to gamma radiation GO:0071480 9.73 ATM CHEK2 MDM2 TP53
24 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.73 ATM BAX CDKN1A CHEK2 MDM2 TP53
25 positive regulation of calcium ion transport into cytosol GO:0010524 9.71 BAX CAV1
26 inner cell mass cell proliferation GO:0001833 9.71 BRCA2 CHEK1
27 DNA damage induced protein phosphorylation GO:0006975 9.71 ATM CHEK1 CHEK2
28 response to arsenic-containing substance GO:0046685 9.7 CDKN1A PTEN
29 response to nutrient GO:0007584 9.7 PKM PTEN
30 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.7 BRCA1 CHEK1
31 amyloid fibril formation GO:1990000 9.69 CDKN2A MDM2
32 forebrain morphogenesis GO:0048853 9.69 NF1 PTEN
33 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.69 EGFR TP53
34 prostate gland growth GO:0060736 9.68 CYP19A1 PTEN
35 signal transduction by p53 class mediator GO:0072331 9.65 CDKN1A TP53
36 cellular response to DNA damage stimulus GO:0006974 9.65 ATM BAX BRCA1 BRCA2 CDKN1A CHEK1
37 chordate embryonic development GO:0043009 9.64 BRCA1 BRCA2
38 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.63 ATM BAX BRCA1 BRCA2 CHEK2 MLH1
39 mammary gland development GO:0030879 9.62 CAV1 CYP19A1
40 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.62 BRCA1 BRCA2 CHEK2 TP53
41 cellular response to actinomycin D GO:0072717 9.61 MDM2 TP53
42 replicative senescence GO:0090399 9.1 ATM CDKN1A CDKN2A CHEK1 CHEK2 TP53
43 phosphorylation GO:0016310 10.15 ATM CDKN1A CHEK1 CHEK2 EGFR PKM
44 positive regulation of transcription, DNA-templated GO:0045893 10.12 BRCA1 BRCA2 CDKN2A CHEK2 EGFR TP53
45 apoptotic process GO:0006915 10.11 ATM BAX BRCA1 CDKN2A CHEK1 CHEK2
46 negative regulation of cell proliferation GO:0008285 10.07 BAX CAV1 CDKN1A CDKN2A NF1 PTEN
47 cell proliferation GO:0008283 10.06 BAX BRCA2 EGFR PTEN TP53
48 positive regulation of gene expression GO:0010628 10.04 ATM BRCA1 CAV1 CDKN2A MDM2 PTEN
49 positive regulation of apoptotic process GO:0043065 10.02 ATM BAX CDKN2A NF1 PTEN TP53
50 DNA repair GO:0006281 10.02 ATM BRCA1 BRCA2 CHEK1 CHEK2 MLH1

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 9.85 ATM CDKN1A CHEK1 CHEK2 EGFR PKM
2 protein kinase binding GO:0019901 9.8 CAV1 CDKN1A CDKN2A CHEK2 EGFR PTEN
3 enzyme binding GO:0019899 9.7 BRCA1 CAV1 EGFR MDM2 MLH1 PTEN
4 disordered domain specific binding GO:0097718 9.5 CDKN2A MDM2 TP53
5 ubiquitin protein ligase binding GO:0031625 9.5 BRCA1 CDKN1A CHEK2 EGFR MDM2 TP53
6 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.43 CDKN1A CDKN2A
7 identical protein binding GO:0042802 9.4 BAX BRCA1 BRCA2 CAV1 CHEK2 EGFR
8 protein binding GO:0005515 10.33 ATM BAX BRCA1 BRCA2 CAV1 CDKN1A
Sources

Sources for Li-Fraumeni Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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