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Li-Fraumeni Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Cancer 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 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
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
Li-Fraumeni Syndrome 1 73
Li Fraumeni Syndrome 53
Lfs1 53

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare endocrine diseases


Sources

Summaries for Li-Fraumeni Syndrome

About this section
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 Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, adrenal gland and bone, and related phenotypes are progressive encephalopathy 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 : 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: Autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.

Wikipedia : 76 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 192)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 2 35.3 CHEK2 TP53
2 soft tissue sarcoma 32.8 BCL2 EGFR MDM2 TP53
3 adrenocortical carcinoma, hereditary 32.7 CHEK2 CYP19A1 TP53
4 medulloblastoma 31.7 BRCA2 EGFR IDH1 PTEN TP53
5 pilocytic astrocytoma 31.5 CDKN2A IDH1 NF1 PTEN TP53
6 liposarcoma 31.2 CDKN2A MDM2 TP53
7 glioblastoma 31.2 BRCA2 CDKN1A CDKN2A EGFR IDH1 MDM2
8 gastric cancer 31.1 CDKN1A CDKN2A EGFR MLH1 PTEN TP53
9 melanoma, cutaneous malignant 1 30.9 CDKN2A PTEN TP53
10 small cell carcinoma 30.9 EGFR PTEN TP53
11 malignant peritoneal mesothelioma 30.7 CDKN2A EGFR
12 cowden disease 30.6 BRCA1 BRCA2 PTEN
13 gliosarcoma 30.5 EGFR IDH1 PTEN TP53
14 lung cancer susceptibility 3 30.5 CDKN2A EGFR IDH1 TP53
15 bilateral breast cancer 30.0 ATM BRCA1 BRCA2 CHEK2
16 adenocarcinoma 29.7 CDKN2A EGFR MLH1 PTEN TP53
17 lynch syndrome 29.5 BRCA1 BRCA2 CDKN2A MLH1 TP53
18 skin melanoma 28.9 CDKN1A CDKN2A MDM2 MLH1 PTEN TP53
19 ataxia-telangiectasia 28.8 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
20 gastric adenocarcinoma 27.9 BAX BCL2 CDKN2A EGFR MLH1 PTEN
21 hereditary breast ovarian cancer syndrome 27.8 ATM BRCA1 BRCA2 CHEK2 MLH1 PTEN
22 prostate cancer 27.0 BAX BCL2 BRCA1 BRCA2 CDKN1A CHEK2
23 lung cancer 25.8 ATM BAX BCL2 CDKN1A CDKN2A CHEK2
24 ovarian cancer 25.4 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
25 breast cancer 22.8 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
26 colorectal cancer 22.5 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
27 lujan-fryns syndrome 11.4
28 lassa fever 11.3
29 adrenal carcinoma 11.2
30 familial stomach cancer 11.2
31 ring chromosome 7 11.0 MDM2 TP53
32 zika virus infection 11.0 MDM2 TP53
33 brain stem astrocytic neoplasm 11.0 CDKN2A TP53
34 hereditary site-specific ovarian cancer syndrome 10.9 BRCA1 BRCA2
35 brain ependymoma 10.9 EGFR TP53
36 dedifferentiated liposarcoma 10.8 CDKN2A MDM2 TP53
37 dyskeratosis congenita, autosomal recessive 3 10.8 TP53 WRAP53
38 breast reconstruction 10.8 BRCA1 BRCA2
39 tuberculous salpingitis 10.8 BRCA1 BRCA2
40 actinic cheilitis 10.8 CDKN1A MDM2 TP53
41 nosophobia 10.8 BRCA1 BRCA2
42 cancerophobia 10.8 BRCA1 BRCA2
43 intracranial chondrosarcoma 10.8 IDH1 TP53
44 uterine corpus serous adenocarcinoma 10.8 BRCA1 BRCA2 TP53
45 fallopian tube adenocarcinoma 10.7 BRCA1 BRCA2 TP53
46 periosteal osteogenic sarcoma 10.7 IDH1 MDM2 TP53
47 bladder squamous cell carcinoma 10.7 CDKN2A PTEN TP53
48 oropharynx cancer 10.7 CDKN2A EGFR TP53
49 malignant mesenchymoma 10.7 CDKN1A MDM2 TP53
50 basaloid squamous cell carcinoma 10.7 CDKN2A EGFR TP53

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

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

26 (show all 46)
# 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 PKM NF1 EGFR
3 Decreased viability GR00221-A-2 11 BRCA1 CHEK1 CHEK2 NF1
4 Decreased viability GR00221-A-3 11 CDKN2A BRCA1 CHEK1 ATM CHEK2
5 Decreased viability GR00221-A-4 11 CDKN2A CHEK1 ATM PKM NF1 CHEK2
6 Decreased viability GR00231-A 11 PKM
7 Decreased viability GR00240-S-1 11 CHEK1
8 Decreased viability GR00301-A 11 BRCA1 CHEK1
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 CHEK1 CDKN2A ATM BRCA1 PKM CHEK2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.62 MLH1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.62 MLH1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.62 BCL2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.62 ATM BRCA1 CHEK1 BCL2 CDKN1A MLH1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.62 CDKN1A CHEK1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.62 CHEK1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.62 ATM
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.62 BCL2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.62 BCL2 CHEK1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.62 MLH1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.62 BRCA1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.62 BRCA1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.62 CHEK1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.62 CHEK1
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 10.62 CDKN1A
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.62 BRCA1
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.62 BCL2
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.62 CHEK1
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.62 ATM
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.62 BCL2
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.62 BRCA1
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.62 BCL2
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.62 CDKN1A
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.62 BCL2
38 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10 BAX BCL2 BRCA2 CHEK1 ATM CDKN1A
39 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10 BAX BCL2 BRCA2 CHEK1 ATM CDKN1A
40 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.9 BAX BCL2 BRCA2 CHEK1 ATM CDKN1A
41 Increased cell death HMECs cells GR00103-A-0 9.8 BRCA1 CHEK1 PKM PTEN TP53 EGFR
42 Apoptosis resistance GR00093-A-0 9.78 CDKN2A ATM PTEN CHEK2
43 Decreased viability after gemcitabine stimulation GR00107-A-2 9.62 CDKN2A ATM CHEK1 PKM
44 Decreased TP53 mRNA expression GR00389-S-5 9.58 CHEK1 ATM TP53
45 Decreased sensitivity to paclitaxel GR00112-A-0 9.46 PTEN NF1
46 Synthetic lethal with cisplatin GR00101-A-1 9.13 CHEK1 BRCA2 BRCA1

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 CDKN1A BAX BRCA2 BRCA1 ATM BCL2
2 endocrine/exocrine gland MP:0005379 10.49 BAX BRCA2 BRCA1 ATM BCL2 CDKN1A
3 hematopoietic system MP:0005397 10.47 BAX BRCA2 BRCA1 ATM BCL2 CDKN1A
4 homeostasis/metabolism MP:0005376 10.46 BCL2 CDKN1A BAX BRCA2 ATM BRCA1
5 immune system MP:0005387 10.45 CDKN1A BAX BRCA2 BRCA1 ATM BCL2
6 mortality/aging MP:0010768 10.45 BAX BRCA2 BRCA1 ATM BCL2 CDKN1A
7 growth/size/body region MP:0005378 10.43 BRCA1 BCL2 BAX BRCA2 ATM IDH1
8 behavior/neurological MP:0005386 10.4 BRCA1 BCL2 BAX BRCA2 ATM CYP19A1
9 cardiovascular system MP:0005385 10.4 BRCA1 BCL2 CDKN1A ATM EGFR CYP19A1
10 digestive/alimentary MP:0005381 10.38 CDKN1A BRCA2 BRCA1 BCL2 EGFR MDM2
11 embryo MP:0005380 10.38 BCL2 CDKN1A BRCA2 BRCA1 ATM EGFR
12 integument MP:0010771 10.38 BRCA2 BRCA1 ATM BCL2 CDKN1A EGFR
13 neoplasm MP:0002006 10.36 BAX BRCA2 BRCA1 ATM BCL2 CDKN1A
14 nervous system MP:0003631 10.28 BCL2 CDKN1A BAX BRCA2 ATM BRCA1
15 adipose tissue MP:0005375 10.23 BRCA1 BCL2 ATM EGFR CYP19A1 CDKN1A
16 muscle MP:0005369 10.22 BCL2 CDKN1A BAX BRCA1 EGFR MDM2
17 limbs/digits/tail MP:0005371 10.18 BRCA1 CDKN1A BAX BRCA2 EGFR MDM2
18 hearing/vestibular/ear MP:0005377 10.12 BCL2 BAX EGFR CYP19A1 CDKN1A NF1
19 liver/biliary system MP:0005370 10.11 EGFR CYP19A1 CDKN2A CDKN1A NF1 MDM2
20 reproductive system MP:0005389 10.1 CDKN1A BAX BRCA2 BRCA1 ATM BCL2
21 normal MP:0002873 10.06 BRCA1 BRCA2 EGFR CYP19A1 NF1 PKM
22 pigmentation MP:0001186 10.02 BRCA1 BCL2 EGFR MDM2 CYP19A1 CDKN2A
23 renal/urinary system MP:0005367 10.02 BCL2 CDKN1A BAX BRCA1 EGFR MDM2
24 respiratory system MP:0005388 9.85 CDKN1A BAX BRCA1 IDH1 EGFR CDKN2A
25 skeleton MP:0005390 9.73 CDKN1A BAX BRCA2 BRCA1 IDH1 EGFR
26 vision/eye MP:0005391 9.32 BCL2 BAX EGFR CYP19A1 CDKN2A CDKN1A
Sources

Drugs & Therapeutics for Li-Fraumeni Syndrome

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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 Early Phase 1

Interventional clinical trials:

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

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 29
Sources

Anatomical Context for Li-Fraumeni Syndrome

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MalaCards organs/tissues related to Li-Fraumeni Syndrome:

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

Publications for Li-Fraumeni Syndrome

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Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 290)
# Title Authors Year
1
Contribution of de novo and mosaic<i>TP53</i>mutations to Li-Fraumeni syndrome. ( 29070607 )
2018
2
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. ( 29077256 )
2018
3
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. ( 29392648 )
2018
4
Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives. ( 29946497 )
2018
5
Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic <i>TP53</i> Mutation. ( 29752319 )
2018
6
Li-Fraumeni Syndrome-Related Malignancies Involving the Genitourinary Tract: Review of a Single-Institution Experience. ( 29935265 )
2018
7
What Should a Gynecologist Know about Li-Fraumeni Syndrome? Lessons from a Patient Undergoing Hysterectomy for Benign Indications. ( 29945152 )
2018
8
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. ( 29955864 )
2018
9
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
10
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome. ( 29416929 )
2018
11
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. ( 29076966 )
2018
12
Radiation-associated Angiosarcoma Mimicking Fallopian Tube High-grade Serous Carcinoma in a Woman With De Novo Li-Fraumeni Syndrome. ( 29620582 )
2018
13
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
14
Colon Pathology Characteristics in Li-Fraumeni Syndrome. ( 28624650 )
2017
15
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. ( 28573494 )
2017
16
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? ( 28983852 )
2017
17
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. ( 28160093 )
2017
18
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. ( 27869650 )
2017
19
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
20
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
21
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. ( 28772286 )
2017
22
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. ( 28270529 )
2017
23
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. ( 28356770 )
2017
24
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. ( 28818333 )
2017
25
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. ( 28279309 )
2017
26
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. ( 28572266 )
2017
27
Cancer Screening in Li-Fraumeni Syndrome. ( 28772307 )
2017
28
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. ( 28301458 )
2017
29
Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. ( 28114597 )
2017
30
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. ( 28772294 )
2017
31
Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. ( 28902083 )
2017
32
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. ( 27726232 )
2017
33
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO. ( 28137790 )
2017
34
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes. ( 28592622 )
2017
35
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis. ( 28772291 )
2017
36
Primary Cutaneous Leiomyosarcoma Arising in a Patient With Li-Fraumeni Syndrome. A Neoplasm With Unusual Histopathologic Features and Loss of Heterozygosity at TP53 Gene. ( 28475508 )
2017
37
Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic. ( 28988289 )
2017
38
Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial. ( 28772306 )
2017
39
Is Li-Fraumeni syndrome really much more common? ( 29091331 )
2017
40
Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome. ( 29594232 )
2017
41
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome. ( 28303452 )
2017
42
The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome. ( 28154273 )
2017
43
Atypical cutaneous melanocytic tumours arising in two patients with Li-Fraumeni syndrome. ( 29108654 )
2017
44
Hsp90 and PKM2 Drive the Expression of Aromatase in Li-Fraumeni Syndrome Breast Adipose Stromal Cells. ( 27467582 )
2016
45
Genetic and functional analysis of a Li Fraumeni syndrome family in China. ( 26818906 )
2016
46
Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni Syndrome. ( 27297285 )
2016
47
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing. ( 27516001 )
2016
48
Does PTEN gene mutation play any role in Li-Fraumeni syndrome. ( 27493922 )
2016
49
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. ( 26823150 )
2016
50
Biochemical and imaging surveillance in Li-Fraumeni syndrome - Authors' reply. ( 27819240 )
2016
Sources

Variations for Li-Fraumeni Syndrome

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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 1090)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.3(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 GRCh37 Chromosome 22, 29121242: 29121242
2 CHEK2 NM_007194.3(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 GRCh38 Chromosome 22, 28725254: 28725254
3 TP53 TP53, 1-BP DEL, CODON 257 deletion Pathogenic
4 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
5 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
6 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh38 Chromosome 17, 7675088: 7675088
7 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh37 Chromosome 17, 7573996: 7573996
8 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh38 Chromosome 17, 7670678: 7670678
9 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Likely pathogenic rs28934875 GRCh37 Chromosome 17, 7578518: 7578518
10 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh38 Chromosome 17, 7674221: 7674221
11 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Pathogenic rs121912652 GRCh37 Chromosome 17, 7577509: 7577509
12 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Pathogenic rs121912652 GRCh38 Chromosome 17, 7674191: 7674191
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.215C> G (p.Pro72Arg) single nucleotide variant drug response rs1042522 GRCh38 Chromosome 17, 7676154: 7676154
19 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
20 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 GRCh38 Chromosome 17, 7674238: 7674238
21 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
22 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 GRCh38 Chromosome 17, 7674229: 7674229
23 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
24 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
25 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh37 Chromosome 17, 7578532: 7578532
26 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh38 Chromosome 17, 7675214: 7675214
27 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh37 Chromosome 17, 7577124: 7577124
28 TP53 NM_000546.5(TP53): c.814G> T (p.Val272Leu) single nucleotide variant Likely pathogenic rs121912657 GRCh38 Chromosome 17, 7673806: 7673806
29 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
30 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Likely pathogenic rs28934875 GRCh38 Chromosome 17, 7675200: 7675200
31 TP53 NM_000546.5(TP53): c.532delC (p.His178Thrfs) deletion Pathogenic rs863223300 GRCh38 Chromosome 17, 7675080: 7675080
32 TP53 NM_000546.5(TP53): c.532delC (p.His178Thrfs) deletion Pathogenic rs863223300 GRCh37 Chromosome 17, 7578398: 7578398
33 TP53 NM_000546.5(TP53): c.875A> T (p.Lys292Ile) single nucleotide variant Pathogenic rs121912663 GRCh37 Chromosome 17, 7577063: 7577063
34 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh38 Chromosome 17, 7674241: 7674241
35 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh37 Chromosome 17, 7578221: 7578222
36 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh38 Chromosome 17, 7674903: 7674904
37 TP53 NM_000546.5(TP53): c.875A> T (p.Lys292Ile) single nucleotide variant Pathogenic rs121912663 GRCh38 Chromosome 17, 7673745: 7673745
38 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
39 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh38 Chromosome 17, 7670699: 7670699
40 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Pathogenic rs28934574 GRCh37 Chromosome 17, 7577094: 7577094
41 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Pathogenic rs28934574 GRCh38 Chromosome 17, 7673776: 7673776
42 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
43 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
44 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
45 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
46 TP53 NM_000546.5(TP53): c.451C> T (p.Pro151Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
47 TP53 NM_000546.5(TP53): c.451C> T (p.Pro151Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh38 Chromosome 17, 7675161: 7675161
48 TP53 TP53, 11-BP DEL/5-BP INS indel Pathogenic
49 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
50 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic rs121912666 GRCh38 Chromosome 17, 7674872: 7674872

Cosmic variations for Li-Fraumeni Syndrome:

9
(show top 50) (show all 158)
# 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 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 5
6 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 5
7 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 5
8 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 17:7674224-7674224 5
9 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>T p.G245C 17:7674230-7674230 5
10 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 5
11 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 5
12 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 5
13 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 5
14 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.961A>T p.K321* 17:7673567-7673567 5
15 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>A p.G245S 17:7674230-7674230 5
16 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611A>G p.E204G 17:7674920-7674920 5
17 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.701A>G p.Y234C 17:7674262-7674262 5
18 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 17:7674863-7674863 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 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.226G>C p.E76Q 12:112450406-112450406 5
23 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.1508G>T p.G503V 12:112489084-112489084 5
24 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.214G>A p.A72T 12:112450394-112450394 5
25 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.205G>A p.E69K 12:112450385-112450385 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
Sources

Expression for Li-Fraumeni Syndrome

About this section
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:

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 92)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.97 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
2
Apoptotic Pathways in Synovial Fibroblasts 64
Show member pathways
 13.94 ATM BAX BCL2 CDKN2A CHEK1 CHEK2
3
Gene Expression 66
Show member pathways
 13.91 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
4
Cell Cycle, Mitotic 66
Show member pathways
 13.56 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
5
Akt Signaling 64
Show member pathways
 13.49 BAX BCL2 CDKN1A CHEK1 EGFR MDM2
6
DNA Double-Strand Break Repair 66
Show member pathways
 13.3 ATM BRCA1 BRCA2 CHEK1 CHEK2 MLH1
7
PI3K-Akt signaling pathway 37
Show member pathways
 13.15 ATM BAX BCL2 BRCA1 CDKN1A EGFR
8
Regulation of TP53 Activity 66
Show member pathways
 13.11 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
9
Endometrial cancer 37
Show member pathways
 13.04 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
10
TCR Signaling (Qiagen) 64
Show member pathways
 13 ATM BRCA1 BRCA2 CHEK2 MLH1 TP53
11
Pathways in cancer 37
13 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
12
Apoptosis Modulation and Signaling 1
Show member pathways
 12.94 ATM BAX BCL2 CDKN1A CDKN2A MDM2
13
Gastric cancer 37
Show member pathways
 12.93 BAX BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
14
Glioma 37
Show member pathways
 12.85 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
15
Chks in Checkpoint Regulation 64
Show member pathways
 12.84 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
16
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.8 CDKN1A EGFR MDM2 PTEN TP53
17
Cell Cycle Checkpoints 66
Show member pathways
 12.8 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
18
MicroRNAs in cancer 37
12.69 ATM BCL2 BRCA1 CDKN1A CDKN2A EGFR
19
Immune response IL-23 signaling pathway 22
Show member pathways
 12.67 BAX BCL2 CDKN1A EGFR TP53
20
Kaposi's sarcoma-associated herpesvirus infection 37
Show member pathways
 12.65 BAX BCL2 CDKN1A PTEN TP53
21
Mitotic G1-G1/S phases 66
Show member pathways
 12.65 ATM CDKN1A CDKN2A MDM2 TP53
22
Apoptosis Pathway 72
Show member pathways
 12.64 ATM BAX BCL2 CHEK1 CHEK2 EGFR
23
DNA Damage 4
12.63 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
24
HTLV-I infection 37
12.6 ATM BAX CDKN1A CDKN2A CHEK1 CHEK2
25
Cell cycle 1 37
12.55 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
26
Viral carcinogenesis 37
12.48 BAX CDKN1A CDKN2A CHEK1 MDM2 PKM
27
DNA Double Strand Break Response 66
Show member pathways
 12.43 ATM BRCA1 CHEK2 TP53
28
Cyclins and Cell Cycle Regulation 64
Show member pathways
 12.42 ATM CDKN1A CDKN2A TP53
29
Epstein-Barr virus infection 37
12.37 BCL2 CDKN1A MDM2 TP53
30
Transcriptional misregulation in cancer 37
12.37 ATM BAX CDKN1A MDM2 TP53
31
DNA Damage Response 1
Show member pathways
 12.37 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
32
Proteoglycans in cancer 37
12.36 CDKN1A EGFR MDM2 TP53
33
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.36 ATM BRCA1 BRCA2 CHEK1
34
Cell cycle Role of SCF complex in cell cycle regulation 22
Show member pathways
 12.35 BRCA1 CDKN1A CDKN2A CHEK1 CHEK2
35
AKT Signaling Pathway 67
12.34 BAX BCL2 CDKN1A EGFR MDM2 PTEN
36
p53 Signaling 64
Show member pathways
 12.34 ATM BAX BCL2 BRCA1 CDKN1A CHEK1
37
Colorectal Cancer Metastasis 64
12.32 BAX CDKN1A EGFR MLH1 TP53
38
Cellular senescence (KEGG) 37
12.32 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
39
Integrated Breast Cancer Pathway 1
12.32 ATM BAX BCL2 BRCA1 BRCA2 CHEK1
40
FoxO signaling pathway 37
Show member pathways
 12.23 ATM CDKN1A EGFR MDM2 PTEN
41
SMAD Signaling Network 64
12.23 ATM BCL2 CDKN1A CDKN2A MDM2 TP53
42
Direct p53 effectors 1
12.22 BAX BCL2 CDKN1A EGFR MDM2 MLH1
43
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 12.2 CDKN1A EGFR MDM2 PTEN
44
Development IGF-1 receptor signaling 22
Show member pathways
 12.19 BAX CDKN1A MDM2 PTEN TP53
45
Glioblastoma Multiforme 64
12.17 CDKN1A CDKN2A EGFR MDM2 NF1 PTEN
46
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.16 BAX BCL2 BRCA1 CDKN1A EGFR
47
Senescence and Autophagy in Cancer 1
12.14 BCL2 CDKN1A CDKN2A MDM2 PTEN TP53
48
DNA Damage Response (only ATM dependent) 1
12.14 ATM BAX BCL2 CDKN1A CDKN2A MDM2
49
Sphingolipid signaling pathway 37
12.1 BAX BCL2 PTEN TP53
50
Small cell lung cancer 37
12.05 BAX BCL2 CDKN1A PTEN 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 nucleoplasm GO:0005654 9.97 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
2 nucleolus GO:0005730 9.93 ATM CDKN1A CDKN2A MDM2 NF1 TP53
3 nucleus GO:0005634 9.89 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
4 chromosome, telomeric region GO:0000781 9.58 ATM CHEK1 CHEK2
5 condensed nuclear chromosome GO:0000794 9.5 BRCA1 CHEK1 MLH1
6 pore complex GO:0046930 9.43 BAX BCL2
7 protein-containing complex GO:0032991 9.23 BCL2 BRCA1 BRCA2 CDKN1A CHEK1 EGFR
8 cytosol GO:0005829 10.18 BAX BCL2 BRCA2 CDKN1A CDKN2A CHEK1
9 cytoplasm GO:0005737 10.16 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A

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

(show top 50) (show all 81)
# Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.99 ATM CDKN1A CDKN2A TP53
2 response to organic cyclic compound GO:0014070 9.98 CDKN1A EGFR IDH1 PTEN
3 negative regulation of cell growth GO:0030308 9.96 BCL2 CDKN1A CDKN2A TP53
4 cellular response to hypoxia GO:0071456 9.96 BCL2 MDM2 PTEN TP53
5 regulation of cell cycle GO:0051726 9.96 ATM BAX BCL2 CDKN1A PTEN
6 response to toxic substance GO:0009636 9.94 BAX BCL2 CDKN1A MDM2
7 liver development GO:0001889 9.93 EGFR NF1 PKM
8 regulation of signal transduction by p53 class mediator GO:1901796 9.93 ATM BRCA1 CHEK1 CHEK2 MDM2 TP53
9 double-strand break repair via homologous recombination GO:0000724 9.92 ATM BRCA1 BRCA2
10 post-embryonic development GO:0009791 9.92 ATM BAX BCL2
11 peptidyl-threonine phosphorylation GO:0018107 9.91 BCL2 CHEK1 CHEK2
12 regulation of protein stability GO:0031647 9.91 BCL2 CDKN2A PTEN
13 cellular response to drug GO:0035690 9.91 CHEK2 EGFR TP53
14 double-strand break repair via nonhomologous end joining GO:0006303 9.9 ATM BRCA1 MLH1
15 double-strand break repair GO:0006302 9.9 BRCA1 BRCA2 CHEK2
16 response to ionizing radiation GO:0010212 9.89 ATM BAX BRCA1
17 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.89 BCL2 CDKN1A PTEN
18 Ras protein signal transduction GO:0007265 9.89 CDKN1A CDKN2A NF1 TP53
19 protein kinase B signaling GO:0043491 9.88 CDKN1A MDM2 PTEN
20 cellular response to organic substance GO:0071310 9.87 BAX BCL2 MDM2
21 ovarian follicle development GO:0001541 9.87 ATM BAX BCL2
22 neuron apoptotic process GO:0051402 9.86 ATM BAX BCL2
23 response to steroid hormone GO:0048545 9.86 BCL2 IDH1 MDM2
24 DNA synthesis involved in DNA repair GO:0000731 9.85 ATM BRCA1 BRCA2
25 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.85 BAX BCL2 TP53
26 positive regulation of neuron apoptotic process GO:0043525 9.85 ATM BAX NF1 TP53
27 cellular response to DNA damage stimulus GO:0006974 9.85 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
28 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.84 BAX BCL2 NF1
29 negative regulation of fibroblast proliferation GO:0048147 9.84 BAX NF1 TP53
30 intrinsic apoptotic signaling pathway GO:0097193 9.83 BAX CDKN1A TP53
31 cell aging GO:0007569 9.82 BCL2 BRCA2 TP53
32 strand displacement GO:0000732 9.81 ATM BRCA1 BRCA2
33 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.81 BRCA2 CDKN1A CHEK2 TP53
34 female gonad development GO:0008585 9.8 ATM BRCA2 CYP19A1 IDH1
35 response to gamma radiation GO:0010332 9.8 BAX BCL2 BRCA2 CHEK2 TP53
36 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.8 ATM BAX CDKN1A CHEK2 MDM2 TP53
37 response to X-ray GO:0010165 9.79 BRCA2 CDKN1A TP53
38 apoptotic mitochondrial changes GO:0008637 9.79 BAX BCL2 CDKN2A
39 cellular response to gamma radiation GO:0071480 9.77 ATM CDKN1A CHEK2 MDM2 TP53
40 regulation of synaptic transmission, GABAergic GO:0032228 9.76 NF1 PTEN
41 regulation of mitochondrial membrane permeability GO:0046902 9.76 BCL2 TP53
42 determination of adult lifespan GO:0008340 9.76 ATM TP53
43 regulation of cell-matrix adhesion GO:0001952 9.75 BCL2 NF1
44 response to arsenic-containing substance GO:0046685 9.75 CDKN1A PTEN
45 oocyte development GO:0048599 9.75 ATM BCL2
46 inner cell mass cell proliferation GO:0001833 9.75 BRCA2 CHEK1
47 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.75 BAX NF1
48 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.74 BRCA1 CHEK1
49 forebrain morphogenesis GO:0048853 9.74 NF1 PTEN
50 amyloid fibril formation GO:1990000 9.73 CDKN2A MDM2

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.8 BRCA1 EGFR MDM2 PTEN TP53
2 protein kinase binding GO:0019901 9.73 CDKN1A CDKN2A CHEK2 EGFR PTEN TP53
3 kinase activity GO:0016301 9.7 ATM CDKN1A CDKN2A CHEK1 CHEK2 EGFR
4 protein phosphatase binding GO:0019903 9.61 BCL2 EGFR TP53
5 disordered domain specific binding GO:0097718 9.5 CDKN2A MDM2 TP53
6 ubiquitin protein ligase binding GO:0031625 9.5 BCL2 BRCA1 CDKN1A CHEK2 EGFR MDM2
7 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.46 CDKN1A CDKN2A
8 BH3 domain binding GO:0051434 9.37 BAX BCL2
9 identical protein binding GO:0042802 9.36 BAX BCL2 BRCA2 CHEK2 EGFR IDH1
Sources

Sources for Li-Fraumeni Syndrome

About this section
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
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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