LFS
MCID: LFR001
MIFTS: 71

Li-Fraumeni Syndrome (LFS)

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

Aliases & Classifications for Li-Fraumeni Syndrome

MalaCards integrated aliases for Li-Fraumeni Syndrome:

Name: Li-Fraumeni Syndrome 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:



Summaries for Li-Fraumeni Syndrome

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 Benzocaine 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

Related Diseases for Li-Fraumeni Syndrome

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2

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

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 2 35.0 CHEK2 TP53
2 soft tissue sarcoma 32.8 BCL2 EGFR MDM2 TP53
3 medulloblastoma 32.0 BRCA2 EGFR IDH1 PTEN TP53
4 glioblastoma 31.5 BRCA2 CDKN1A CDKN2A EGFR IDH1 MDM2
5 gastric cancer 31.5 BAX BCL2 CDKN1A CDKN2A EGFR MLH1
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 small cell carcinoma 30.5 CDKN2A EGFR PTEN TP53
11 malignant peritoneal mesothelioma 30.5 CDKN2A EGFR
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 gastric adenocarcinoma 29.2 BAX BCL2 CDKN2A EGFR MLH1 PTEN
19 hereditary breast ovarian cancer syndrome 29.1 TP53 PTEN MLH1 CHEK2 BRCA2 BRCA1
20 prostate cancer 28.7 BAX BCL2 BRCA1 BRCA2 CAV1 CDKN1A
21 glioma 28.2 TP53 PTEN NF1 MDM2 IDH1 EGFR
22 ovarian cancer 28.2 CDKN1A BRCA2 BRCA1 BCL2 BAX ATM
23 lung cancer 27.7 ATM BAX BCL2 CAV1 CDKN1A CDKN2A
24 colorectal cancer 27.2 BAX BCL2 BRCA1 BRCA2 CAV1 CDKN1A
25 breast cancer 27.2 ATM BAX BCL2 BRCA1 BRCA2 CAV1
26 adrenocortical carcinoma, hereditary 11.8
27 lujan-fryns syndrome 11.6
28 lassa fever 11.4
29 adrenal carcinoma 11.3
30 familial stomach cancer 11.3
31 pilocytic astrocytoma 11.3
32 lujan syndrome 11.1
33 sarcoma 10.5
34 ring chromosome 7 10.5 MDM2 TP53
35 zika virus infection 10.5 MDM2 TP53
36 hereditary site-specific ovarian cancer syndrome 10.5 BRCA1 BRCA2
37 brain ependymoma 10.4 EGFR TP53
38 melanoma 10.4
39 rhabdomyosarcoma 10.4
40 dedifferentiated liposarcoma 10.4 CDKN2A MDM2 TP53
41 verrucous carcinoma 10.4 CDKN2A MDM2 TP53
42 dyskeratosis congenita, autosomal recessive 3 10.4 TP53 WRAP53
43 actinic cheilitis 10.4 CDKN1A MDM2 TP53
44 tuberculous salpingitis 10.4 BRCA1 BRCA2
45 lip cancer 10.4 CDKN1A MDM2 TP53
46 nosophobia 10.4 BRCA1 BRCA2
47 cancerophobia 10.4 BRCA1 BRCA2
48 intracranial chondrosarcoma 10.4 IDH1 TP53
49 anthrax disease 10.4
50 periosteal osteogenic sarcoma 10.4 IDH1 MDM2 TP53

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



Diseases related to Li-Fraumeni Syndrome

Symptoms & Phenotypes for Li-Fraumeni Syndrome

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 45)
# 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 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 BCL2 BRCA1 CDKN1A CHEK1 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-68 10.62 BCL2
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.62 BRCA1
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.62 CDKN1A
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.62 BCL2
36 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
37 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
38 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
39 Increased cell death HMECs cells GR00103-A-0 9.87 BRCA1 CHEK1 EGFR MDM2 PKM PTEN
40 Apoptosis resistance GR00093-A-0 9.8 ATM CDKN2A CHEK2 PTEN
41 Reduced mammosphere formation GR00396-S 9.7 ATM CAV1 CHEK1 EGFR MDM2 PKM
42 Decreased viability after gemcitabine stimulation GR00107-A-2 9.67 ATM CDKN2A CHEK1 PKM
43 Decreased TP53 mRNA expression GR00389-S-5 9.61 ATM CHEK1 TP53
44 Decreased sensitivity to paclitaxel GR00112-A-0 9.48 NF1 PTEN
45 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 CHEK1

MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

47 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 ATM BAX BCL2 BRCA1 BRCA2 CAV1
2 endocrine/exocrine gland MP:0005379 10.49 ATM BAX BCL2 BRCA1 BRCA2 CAV1
3 hematopoietic system MP:0005397 10.49 ATM BAX BCL2 BRCA1 BRCA2 CAV1
4 homeostasis/metabolism MP:0005376 10.45 ATM BAX BCL2 BRCA1 BRCA2 CAV1
5 mortality/aging MP:0010768 10.45 ATM BAX BCL2 BRCA1 BRCA2 CAV1
6 immune system MP:0005387 10.44 ATM BAX BCL2 BRCA1 BRCA2 CAV1
7 growth/size/body region MP:0005378 10.42 ATM BAX BCL2 BRCA1 BRCA2 CAV1
8 behavior/neurological MP:0005386 10.4 ATM BAX BCL2 BRCA1 BRCA2 CAV1
9 cardiovascular system MP:0005385 10.39 ATM BCL2 BRCA1 CAV1 CDKN1A CDKN2A
10 digestive/alimentary MP:0005381 10.38 BCL2 BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
11 embryo MP:0005380 10.37 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
12 integument MP:0010771 10.37 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
13 neoplasm MP:0002006 10.36 ATM BAX BCL2 BRCA1 BRCA2 CAV1
14 nervous system MP:0003631 10.25 ATM BAX BCL2 BRCA1 BRCA2 CAV1
15 adipose tissue MP:0005375 10.22 ATM BCL2 BRCA1 CAV1 CDKN1A EGFR
16 muscle MP:0005369 10.2 BAX BCL2 BRCA1 CAV1 CDKN1A CDKN2A
17 limbs/digits/tail MP:0005371 10.16 BAX BRCA1 BRCA2 CDKN1A EGFR MDM2
18 liver/biliary system MP:0005370 10.1 CAV1 CDKN1A CDKN2A EGFR MDM2 NF1
19 reproductive system MP:0005389 10.1 ATM BAX BCL2 BRCA1 BRCA2 CAV1
20 hearing/vestibular/ear MP:0005377 10.04 BAX BCL2 CDKN1A EGFR NF1 TP53
21 renal/urinary system MP:0005367 10.02 BAX BCL2 BRCA1 CAV1 CDKN1A EGFR
22 pigmentation MP:0001186 9.97 BCL2 BRCA1 CDKN2A EGFR MDM2 NF1
23 respiratory system MP:0005388 9.9 BAX BRCA1 CAV1 CDKN1A CDKN2A EGFR
24 skeleton MP:0005390 9.73 BAX BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
25 vision/eye MP:0005391 9.28 BAX BCL2 CDKN1A CDKN2A EGFR MLH1

Drugs & Therapeutics for Li-Fraumeni Syndrome

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

(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
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
3
tannic acid Approved Phase 1, Phase 2 1401-55-4
4
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2,Phase 2 59-67-6 938
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
6 Vasodilator Agents Phase 1, Phase 2
7 Antimetabolites Phase 1, Phase 2
8 Nutrients Phase 1, Phase 2
9 Vitamin B Complex Phase 1, Phase 2
10 Hypolipidemic Agents Phase 1, Phase 2
11 Nicotinic Acids Phase 1, Phase 2
12 Trace Elements Phase 1, Phase 2
13 Vitamins Phase 1, Phase 2
14 Micronutrients Phase 1, Phase 2
15 Vitamin B9 Phase 1, Phase 2
16 Folate Phase 1, Phase 2
17 Lipid Regulating Agents Phase 1, Phase 2
18 Vitamin B3 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

Genetic Tests for Li-Fraumeni Syndrome

Genetic tests related to Li-Fraumeni Syndrome:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 30

Anatomical Context for Li-Fraumeni Syndrome

MalaCards organs/tissues related to Li-Fraumeni Syndrome:

42
Breast, Brain, Adrenal Gland, Bone, Testes, Colon, Skin

Publications for Li-Fraumeni Syndrome

Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 317)
# Title Authors Year
1
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. ( 30243621 )
2019
2
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
3
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome: Erratum. ( 30489338 )
2019
4
Li-Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature. ( 30653764 )
2019
5
Li Fraumeni syndrome. ( 30709544 )
2019
6
Hematologic malignancies and Li-Fraumeni syndrome. ( 30709875 )
2019
7
Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome. ( 30719841 )
2019
8
A rare case of multiple cutaneous melanomas in Li-Fraumeni syndrome: A coincidental association or a component of the syndrome? ( 30809791 )
2019
9
Contribution of de novo and mosaic<i>TP53</i>mutations to Li-Fraumeni syndrome. ( 29070607 )
2018
10
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. ( 29077256 )
2018
11
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. ( 29392648 )
2018
12
Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives. ( 29946497 )
2018
13
Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic <i>TP53</i> Mutation. ( 29752319 )
2018
14
Li-Fraumeni Syndrome-Related Malignancies Involving the Genitourinary Tract: Review of a Single-Institution Experience. ( 29935265 )
2018
15
What Should a Gynecologist Know about Li-Fraumeni Syndrome? Lessons from a Patient Undergoing Hysterectomy for Benign Indications. ( 29945152 )
2018
16
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. ( 29955864 )
2018
17
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
18
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome. ( 29416929 )
2018
19
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. ( 29076966 )
2018
20
Radiation-associated Angiosarcoma Mimicking Fallopian Tube High-grade Serous Carcinoma in a Woman With De Novo Li-Fraumeni Syndrome. ( 29620582 )
2018
21
Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma. ( 30196175 )
2018
22
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells. ( 29985349 )
2018
23
A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome? ( 30004834 )
2018
24
Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer. ( 30009566 )
2018
25
Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. ( 30076369 )
2018
26
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. ( 30086788 )
2018
27
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. ( 30107858 )
2018
28
Families' and health care professionals' attitudes towards Li-Fraumeni syndrome testing in children: A systematic review. ( 30191952 )
2018
29
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. ( 30216591 )
2018
30
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals. ( 30238178 )
2018
31
A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome. ( 30239254 )
2018
32
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. ( 30240537 )
2018
33
Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome. ( 30445420 )
2018
34
Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family. ( 30588330 )
2018
35
Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence. ( 30591002 )
2018
36
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
37
Colon Pathology Characteristics in Li-Fraumeni Syndrome. ( 28624650 )
2017
38
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. ( 28573494 )
2017
39
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? ( 28983852 )
2017
40
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. ( 28160093 )
2017
41
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. ( 27869650 )
2017
42
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
43
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
44
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. ( 28772286 )
2017
45
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. ( 28270529 )
2017
46
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. ( 28356770 )
2017
47
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. ( 28818333 )
2017
48
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. ( 28279309 )
2017
49
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. ( 28572266 )
2017
50
Cancer Screening in Li-Fraumeni Syndrome. ( 28772307 )
2017

Variations for Li-Fraumeni Syndrome

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 1484)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.665C> T (p.Pro222Leu) single nucleotide variant Uncertain significance rs146340390 GRCh37 Chromosome 17, 7578184: 7578184
2 TP53 NM_000546.5(TP53): c.665C> T (p.Pro222Leu) single nucleotide variant Uncertain significance rs146340390 GRCh38 Chromosome 17, 7674866: 7674866
3 TP53 NM_001126115.1(TP53): c.443G> T (p.Arg148Ile) single nucleotide variant Uncertain significance rs121912660 GRCh38 Chromosome 17, 7673781: 7673781
4 TP53 NM_001126115.1(TP53): c.443G> T (p.Arg148Ile) single nucleotide variant Uncertain significance rs121912660 GRCh37 Chromosome 17, 7577099: 7577099
5 TP53 NM_001126115.1(TP53): c.85G> A (p.Ala29Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193920817 GRCh38 Chromosome 17, 7675131: 7675131
6 TP53 NM_001126115.1(TP53): c.401G> A (p.Gly134Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs193920774 GRCh38 Chromosome 17, 7673823: 7673823
7 TP53 NM_001126115.1(TP53): c.401G> A (p.Gly134Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs193920774 GRCh37 Chromosome 17, 7577141: 7577141
8 TP53 NM_001126115.1(TP53): c.318T> G (p.Cys106Trp) single nucleotide variant Pathogenic rs193920789 GRCh38 Chromosome 17, 7674249: 7674249
9 TP53 NM_001126115.1(TP53): c.318T> G (p.Cys106Trp) single nucleotide variant Pathogenic rs193920789 GRCh37 Chromosome 17, 7577567: 7577567
10 TP53 NM_001126115.1(TP53): c.85G> A (p.Ala29Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193920817 GRCh37 Chromosome 17, 7578449: 7578449
11 TP53 NM_000546.5(TP53): c.722C> G (p.Ser241Cys) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
12 TP53 NM_000546.5(TP53): c.722C> G (p.Ser241Cys) single nucleotide variant Likely pathogenic rs28934573 GRCh38 Chromosome 17, 7674241: 7674241
13 TP53 NM_000546.5(TP53): c.1010G> C (p.Arg337Pro) single nucleotide variant Likely pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
14 TP53 NM_000546.5(TP53): c.1010G> C (p.Arg337Pro) single nucleotide variant Likely pathogenic rs121912664 GRCh38 Chromosome 17, 7670699: 7670699
15 TP53 NM_000546.5(TP53): c.375G> A (p.Thr125=) single nucleotide variant Pathogenic rs55863639 GRCh37 Chromosome 17, 7579312: 7579312
16 TP53 NM_000546.5(TP53): c.375G> A (p.Thr125=) single nucleotide variant Pathogenic rs55863639 GRCh38 Chromosome 17, 7675994: 7675994
17 TP53 NM_000546.5(TP53): c.1150A> G (p.Met384Val) single nucleotide variant Uncertain significance rs730882009 GRCh38 Chromosome 17, 7669641: 7669641
18 TP53 NM_000546.5(TP53): c.1150A> G (p.Met384Val) single nucleotide variant Uncertain significance rs730882009 GRCh37 Chromosome 17, 7572959: 7572959
19 TP53 NM_000546.5(TP53): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs730882029 GRCh38 Chromosome 17, 7670685: 7670685
20 TP53 NM_000546.5(TP53): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs730882029 GRCh37 Chromosome 17, 7574003: 7574003
21 TP53 NM_000546.5(TP53): c.1014C> T (p.Phe338=) single nucleotide variant Benign/Likely benign rs150293825 GRCh38 Chromosome 17, 7670695: 7670695
22 TP53 NM_000546.5(TP53): c.1014C> T (p.Phe338=) single nucleotide variant Benign/Likely benign rs150293825 GRCh37 Chromosome 17, 7574013: 7574013
23 TP53 NM_000546.5(TP53): c.1000G> C (p.Gly334Arg) single nucleotide variant Uncertain significance rs730882028 GRCh38 Chromosome 17, 7670709: 7670709
24 TP53 NM_000546.5(TP53): c.1000G> C (p.Gly334Arg) single nucleotide variant Uncertain significance rs730882028 GRCh37 Chromosome 17, 7574027: 7574027
25 TP53 NM_000546.5(TP53): c.994-17C> T single nucleotide variant Benign/Likely benign rs368691910 GRCh38 Chromosome 17, 7670732: 7670732
26 TP53 NM_000546.5(TP53): c.994-17C> T single nucleotide variant Benign/Likely benign rs368691910 GRCh37 Chromosome 17, 7574050: 7574050
27 TP53 NM_000546.5(TP53): c.993+326_993+341del16 deletion Benign/Likely benign rs730882013 GRCh38 Chromosome 17, 7673194: 7673209
28 TP53 NM_000546.5(TP53): c.993+326_993+341del16 deletion Benign/Likely benign rs730882013 GRCh37 Chromosome 17, 7576512: 7576527
29 TP53 NM_000546.5(TP53): c.993+13G> C single nucleotide variant Conflicting interpretations of pathogenicity rs369599972 GRCh38 Chromosome 17, 7673522: 7673522
30 TP53 NM_000546.5(TP53): c.993+13G> C single nucleotide variant Conflicting interpretations of pathogenicity rs369599972 GRCh37 Chromosome 17, 7576840: 7576840
31 TP53 NM_000546.5(TP53): c.845G> T (p.Arg282Leu) single nucleotide variant Uncertain significance rs730882008 GRCh38 Chromosome 17, 7673775: 7673775
32 TP53 NM_000546.5(TP53): c.845G> T (p.Arg282Leu) single nucleotide variant Uncertain significance rs730882008 GRCh37 Chromosome 17, 7577093: 7577093
33 TP53 NM_000546.5(TP53): c.782+12C> T single nucleotide variant Benign/Likely benign rs17881780 GRCh38 Chromosome 17, 7674169: 7674169
34 TP53 NM_000546.5(TP53): c.782+12C> T single nucleotide variant Benign/Likely benign rs17881780 GRCh37 Chromosome 17, 7577487: 7577487
35 TP53 NM_000546.5(TP53): c.728T> C (p.Met243Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730882006 GRCh38 Chromosome 17, 7674235: 7674235
36 TP53 NM_000546.5(TP53): c.728T> C (p.Met243Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730882006 GRCh37 Chromosome 17, 7577553: 7577553
37 TP53 NM_000546.5(TP53): c.713G> A (p.Cys238Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs730882005 GRCh38 Chromosome 17, 7674250: 7674250
38 TP53 NM_000546.5(TP53): c.672+18G> C single nucleotide variant Benign/Likely benign rs199578278 GRCh38 Chromosome 17, 7674841: 7674841
39 TP53 NM_000546.5(TP53): c.672+18G> C single nucleotide variant Benign/Likely benign rs199578278 GRCh37 Chromosome 17, 7578159: 7578159
40 TP53 NM_000546.5(TP53): c.713G> A (p.Cys238Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs730882005 GRCh37 Chromosome 17, 7577568: 7577568
41 TP53 NM_000546.5(TP53): c.709A> G (p.Met237Val) single nucleotide variant Uncertain significance rs730882004 GRCh38 Chromosome 17, 7674254: 7674254
42 TP53 NM_000546.5(TP53): c.709A> G (p.Met237Val) single nucleotide variant Uncertain significance rs730882004 GRCh37 Chromosome 17, 7577572: 7577572
43 TP53 NM_000546.5(TP53): c.646G> A (p.Val216Met) single nucleotide variant Conflicting interpretations of pathogenicity rs730882025 GRCh38 Chromosome 17, 7674885: 7674885
44 TP53 NM_000546.5(TP53): c.646G> A (p.Val216Met) single nucleotide variant Conflicting interpretations of pathogenicity rs730882025 GRCh37 Chromosome 17, 7578203: 7578203
45 TP53 NM_000546.5(TP53): c.607G> A (p.Val203Met) single nucleotide variant Uncertain significance rs730882003 GRCh38 Chromosome 17, 7674924: 7674924
46 TP53 NM_000546.5(TP53): c.607G> A (p.Val203Met) single nucleotide variant Uncertain significance rs730882003 GRCh37 Chromosome 17, 7578242: 7578242
47 TP53 NM_000546.5(TP53): c.493C> T (p.Gln165Ter) single nucleotide variant Pathogenic rs730882001 GRCh38 Chromosome 17, 7675119: 7675119
48 TP53 NM_000546.5(TP53): c.493C> T (p.Gln165Ter) single nucleotide variant Pathogenic rs730882001 GRCh37 Chromosome 17, 7578437: 7578437
49 TP53 NM_000546.5(TP53): c.455dupC (p.Pro153Alafs) duplication Pathogenic rs730882019 GRCh38 Chromosome 17, 7675157: 7675157
50 TP53 NM_000546.5(TP53): c.455dupC (p.Pro153Alafs) duplication Pathogenic rs730882019 GRCh37 Chromosome 17, 7578475: 7578475

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 COSM10648 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 0
2 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 0
3 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 0
4 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 17:7674224-7674224 0
5 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>T p.G245C 17:7674230-7674230 0
6 COSM10662 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
7 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 0
8 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 0
9 COSM10654 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 0
10 COSM44720 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.961A>T p.K321* 17:7673567-7673567 0
11 COSM6932 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>A p.G245S 17:7674230-7674230 0
12 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611A>G p.E204G 17:7674920-7674920 0
13 COSM10725 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.701A>G p.Y234C 17:7674262-7674262 0
14 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 17:7674863-7674863 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 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>T p.Q61H 1:114713907-114713907 0
35 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 1:114716126-114716126 0
36 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>C p.G13R 1:114716124-114716124 0
37 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>G p.Q61R 1:114713908-114713908 0
38 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>A p.G12S 1:114716127-114716127 0
39 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>T p.G13V 1:114716123-114716123 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

Expression for Li-Fraumeni Syndrome

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

Pathways for Li-Fraumeni Syndrome

Pathways related to Li-Fraumeni Syndrome according to KEGG:

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 94)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
2
Show member pathways
13.95 ATM BAX BCL2 CDKN2A CHEK1 CHEK2
3
Show member pathways
13.92 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
4
Show member pathways
13.57 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
5
Show member pathways
13.49 BAX BCL2 CDKN1A CHEK1 EGFR MDM2
6
Show member pathways
13.3 ATM BRCA1 BRCA2 CHEK1 CHEK2 MLH1
7
Show member pathways
13.16 ATM BAX BCL2 BRCA1 CDKN1A EGFR
8
Show member pathways
13.14 ATM BAX BCL2 CDKN1A CDKN2A CHEK1
9
Show member pathways
13.11 ATM BAX BRCA1 CDKN1A CDKN2A CHEK1
10
Show member pathways
13.04 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
11
Show member pathways
13.02 BAX BCL2 CDKN1A EGFR PTEN TP53
12
Show member pathways
13 ATM BRCA1 BRCA2 CHEK2 MLH1 TP53
13 13 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
14
Show member pathways
12.95 ATM BAX BCL2 CDKN1A CDKN2A MDM2
15
Show member pathways
12.92 BAX BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
16
Show member pathways
12.84 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
17
Show member pathways
12.8 CDKN1A EGFR MDM2 PTEN TP53
18
Show member pathways
12.8 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
19
Show member pathways
12.78 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
20 12.7 ATM BCL2 BRCA1 CDKN1A CDKN2A EGFR
21
Show member pathways
12.67 BAX BCL2 CDKN1A EGFR TP53
22
Show member pathways
12.66 ATM CDKN1A CDKN2A MDM2 TP53
23 12.65 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
24
Show member pathways
12.64 ATM BAX BCL2 CHEK1 CHEK2 EGFR
25 12.56 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
26 12.54 ATM BAX CDKN1A CDKN2A CHEK1 CHEK2
27
Show member pathways
12.51 BAX CDKN1A MDM2 PTEN TP53
28 12.49 BAX CDKN1A CDKN2A CHEK1 MDM2 PKM
29
Show member pathways
12.43 ATM BRCA1 CHEK2 TP53
30
Show member pathways
12.43 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
31
Show member pathways
12.42 ATM CDKN1A CDKN2A TP53
32 12.42 CAV1 CDKN1A EGFR MDM2 TP53
33
Show member pathways
12.39 BAX BCL2 CDKN1A EGFR MDM2 PTEN
34 12.38 ATM BAX CDKN1A MDM2 TP53
35
Show member pathways
12.36 ATM BRCA1 BRCA2 CHEK1
36
Show member pathways
12.36 BRCA1 CDKN1A CDKN2A CHEK1 CHEK2
37 12.33 BAX CDKN1A EGFR MLH1 TP53
38 12.33 BAX BCL2 CDKN1A EGFR MDM2 PTEN
39 12.33 ATM BAX BCL2 BRCA1 BRCA2 CHEK1
40 12.32 ATM CDKN1A CDKN2A CHEK1 CHEK2 MDM2
41
Show member pathways
12.27 CAV1 CDKN1A EGFR MDM2 PTEN
42
Show member pathways
12.24 ATM CDKN1A EGFR MDM2 PTEN
43 12.24 ATM BCL2 CDKN1A CDKN2A MDM2 TP53
44 12.21 BAX BCL2 CAV1 CDKN1A EGFR MDM2
45 12.17 CDKN1A CDKN2A EGFR MDM2 NF1 PTEN
46
Show member pathways
12.16 BAX BCL2 BRCA1 CDKN1A EGFR
47 12.16 ATM BAX BCL2 CDKN1A CDKN2A MDM2
48 12.15 BCL2 CDKN1A CDKN2A MDM2 PTEN TP53
49
Show member pathways
12.13 ATM BAX BCL2 BRCA1 CDKN1A CHEK1
50 12.11 BAX BCL2 PTEN TP53

GO Terms for Li-Fraumeni Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.89 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
2 chromosome, telomeric region GO:0000781 9.62 ATM CHEK1 CHEK2 WRAP53
3 condensed nuclear chromosome GO:0000794 9.54 BRCA1 CHEK1 MLH1
4 pore complex GO:0046930 9.43 BAX BCL2
5 protein-containing complex GO:0032991 9.28 BCL2 BRCA1 BRCA2 CAV1 CDKN1A CHEK1
6 cytosol GO:0005829 10.22 BAX BCL2 BRCA2 CDKN1A CDKN2A CHEK1
7 cytoplasm GO:0005737 10.09 ATM BAX BCL2 BRCA1 BRCA2 CAV1
8 nucleoplasm GO:0005654 10.07 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 9.98 ATM BAX BCL2 PTEN
2 cell cycle arrest GO:0007050 9.97 ATM CDKN1A CDKN2A TP53
3 response to organic cyclic compound GO:0014070 9.97 CDKN1A EGFR IDH1 PTEN
4 cellular response to hypoxia GO:0071456 9.96 BCL2 MDM2 PTEN TP53
5 negative regulation of cell growth GO:0030308 9.96 BCL2 CDKN1A CDKN2A TP53
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.91 BCL2 CAV1 EGFR
7 liver development GO:0001889 9.91 EGFR NF1 PKM
8 regulation of protein stability GO:0031647 9.9 BCL2 CDKN2A PTEN
9 cellular response to DNA damage stimulus GO:0006974 9.9 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
10 cellular response to drug GO:0035690 9.89 CHEK2 EGFR TP53
11 double-strand break repair GO:0006302 9.89 BRCA1 BRCA2 CHEK2
12 double-strand break repair via nonhomologous end joining GO:0006303 9.89 ATM BRCA1 MLH1
13 response to toxic substance GO:0009636 9.89 BAX BCL2 CDKN1A MDM2
14 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.88 BCL2 CDKN1A PTEN
15 regulation of signal transduction by p53 class mediator GO:1901796 9.88 ATM CHEK1 CHEK2 MDM2 TP53
16 positive regulation of neuron apoptotic process GO:0043525 9.87 ATM BAX NF1
17 Ras protein signal transduction GO:0007265 9.87 CDKN1A CDKN2A NF1 TP53
18 response to ionizing radiation GO:0010212 9.86 ATM BAX BRCA1
19 cellular response to organic substance GO:0071310 9.85 BAX BCL2 MDM2
20 DNA damage checkpoint GO:0000077 9.83 ATM CHEK1 CHEK2
21 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.83 BAX BCL2 CAV1 TP53
22 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.82 BAX BCL2 NF1
23 negative regulation of fibroblast proliferation GO:0048147 9.82 BAX NF1 TP53
24 intrinsic apoptotic signaling pathway GO:0097193 9.81 BAX CDKN1A TP53
25 positive regulation of DNA repair GO:0045739 9.81 BRCA1 EGFR WRAP53
26 response to steroid hormone GO:0048545 9.8 BCL2 IDH1 MDM2
27 cellular response to gamma radiation GO:0071480 9.8 ATM CHEK2 MDM2 TP53
28 cell aging GO:0007569 9.79 BCL2 BRCA2 TP53
29 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.79 BRCA2 CHEK2 TP53
30 apoptotic mitochondrial changes GO:0008637 9.76 BAX BCL2 CDKN2A
31 positive regulation of calcium ion transport into cytosol GO:0010524 9.74 BAX CAV1
32 regulation of cell-matrix adhesion GO:0001952 9.74 BCL2 NF1
33 inner cell mass cell proliferation GO:0001833 9.74 BRCA2 CHEK1
34 response to arsenic-containing substance GO:0046685 9.74 CDKN1A PTEN
35 response to nutrient GO:0007584 9.73 PKM PTEN
36 regulation of mitochondrial membrane permeability GO:0046902 9.73 BCL2 TP53
37 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.73 BRCA1 CHEK1
38 regulation of protein heterodimerization activity GO:0043497 9.73 BAX BCL2
39 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.73 ATM BAX CDKN1A CHEK2 MDM2 TP53
40 amyloid fibril formation GO:1990000 9.72 CDKN2A MDM2
41 forebrain morphogenesis GO:0048853 9.72 NF1 PTEN
42 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.72 EGFR TP53
43 DNA damage induced protein phosphorylation GO:0006975 9.72 ATM CHEK1 CHEK2
44 response to gamma radiation GO:0010332 9.72 BAX BCL2 BRCA2 CHEK2 TP53
45 regulation of protein homodimerization activity GO:0043496 9.71 BAX BCL2
46 leukocyte homeostasis GO:0001776 9.71 BAX BCL2
47 signal transduction by p53 class mediator GO:0072331 9.69 CDKN1A TP53
48 chordate embryonic development GO:0043009 9.68 BRCA1 BRCA2
49 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.67 BRCA1 BRCA2 CHEK2 TP53
50 cellular response to actinomycin D GO:0072717 9.66 MDM2 TP53

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.91 ATM CDKN1A CHEK1 CHEK2 EGFR PKM
2 protein heterodimerization activity GO:0046982 9.89 BAX BCL2 CAV1 EGFR TP53
3 protein kinase binding GO:0019901 9.8 CAV1 CDKN1A CDKN2A CHEK2 EGFR PTEN
4 enzyme binding GO:0019899 9.7 BRCA1 CAV1 EGFR MDM2 MLH1 PTEN
5 protein phosphatase binding GO:0019903 9.63 BCL2 EGFR TP53
6 ubiquitin protein ligase binding GO:0031625 9.56 BCL2 BRCA1 CDKN1A CHEK2 EGFR MDM2
7 disordered domain specific binding GO:0097718 9.54 CDKN2A MDM2 TP53
8 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.48 CDKN1A CDKN2A
9 identical protein binding GO:0042802 9.44 BAX BCL2 BRCA1 BRCA2 CAV1 CHEK2
10 BH3 domain binding GO:0051434 9.4 BAX BCL2
11 protein binding GO:0005515 10.28 ATM BAX BCL2 BRCA1 BRCA2 CAV1

Sources for Li-Fraumeni Syndrome

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
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