LFS
MCID: LFR001
MIFTS: 75

Li-Fraumeni Syndrome (LFS) malady

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

Aliases & Classifications for Li-Fraumeni Syndrome

Aliases & Descriptions for Li-Fraumeni Syndrome:

Name: Li-Fraumeni Syndrome 54 54 12 71 23 50 24 25 56 66 13 13 52 42 14 69
Sbla Syndrome 12 23 50 24 25
Li-Fraumeni Syndrome 2 66 29 69
Sarcoma Family Syndrome of Li and Fraumeni 50 25
Li-Fraumeni Syndrome 1 29 69
Li Fraumeni Syndrome 50 29
Lfs 25 66
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 25
Sarcoma, Breast, Leukaemia and Adrenal Gland Syndrome 12
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 12
Lfs1 50
Lfs2 66

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
li-fraumeni syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Lfs is a highly penetrant cancer syndrome. the risks for cancer in lfs are estimated to be 50% by age 30 years and 90% by age 60 years [lustbader et al 1992]. however, men with lfs may have significantly lower lifetime risks of cancer than women [wu et al 2006] (see clinical description). these figures may still be somewhat biased, since individuals are typically offered tp53 testing if they are diagnosed with cancer at unusually young ages...

Classifications:



External Ids:

Disease Ontology 12 DOID:3012
MeSH 42 D016864
NCIt 47 C3476
SNOMED-CT 64 428850001
Orphanet 56 ORPHA524
MESH via Orphanet 43 D016864
UMLS via Orphanet 70 C0085390
ICD10 via Orphanet 34 D48.9
UMLS 69 C0085390

Summaries for Li-Fraumeni Syndrome

UniProtKB/Swiss-Prot : 66 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. Li-Fraumeni syndrome 2: A highly penetrant 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.

MalaCards based summary : Li-Fraumeni Syndrome, also known as sbla syndrome, is related to adrenal cortical carcinoma and colorectal cancer, and has symptoms including sarcoma, neoplasm of the skin and lymphoma. An important gene associated with Li-Fraumeni Syndrome is TP53 (Tumor Protein P53), and among its related pathways/superpathways are ERK Signaling and Gene Expression. The drugs Anti-Infective Agents and Anti-Infective Agents, Local have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and adrenal gland, and related phenotypes are Decreased viability and cellular

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 : 50 li-fraumeni syndrome (lfs) is an inherited condition that is characterized by an increased risk for certain types of cancer. affected people often develop cancer at an earlier age than expected and may be diagnosed with more than one cancer during their lifetime. lfs is primarily associated with sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, leukemia and adrenocortical carcinoma; however, many other types of cancer have been reported in people with this condition. it is caused by changes (mutations) in the tp53 gene and is inherited in an autosomal dominant manner. management may include high-risk cancer screening and/or prophylactic surgeries. last updated: 5/4/2015

OMIM : 54 Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is... (151623) more...

Wikipedia : 71 Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder {except for the greater than... more...

GeneReviews: NBK1311

Related Diseases for Li-Fraumeni Syndrome

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 3 Li-Fraumeni Syndrome, Chek2-Related

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

(show top 50) (show all 202)
id Related Disease Score Top Affiliating Genes
1 adrenal cortical carcinoma 32.1 CDKN2A EGFR MDM2 TP53
2 colorectal cancer 27.4 ATM BAX BCL2 BRCA1 BRCA2 CAV1
3 li-fraumeni syndrome, chek2-related 12.3
4 li-fraumeni syndrome 3 12.3
5 gastric cancer 11.4
6 glioblastoma 11.4
7 soft tissue sarcoma 11.4
8 lujan-fryns syndrome 11.3
9 lassa fever 11.1
10 adrenal carcinoma 11.1
11 pilocytic astrocytoma 11.1
12 gastric cancer, somatic 11.1
13 familial stomach cancer 11.1
14 breast cancer 10.4
15 lymphoproliferative syndrome, ebv-associated, autosomal, 1 10.4 CHEK2 TP53
16 sarcoma 10.4
17 clear cell adenofibroma 10.3 CDKN2A TP53
18 lacrimal gland adenoid cystic carcinoma 10.3 CDKN2A TP53
19 rommen mueller sybert syndrome 10.3 MDM2 TP53
20 aorto-ventricular tunnel 10.3 BRCA1 BRCA2
21 wolffian adnexal neoplasm 10.3 EGFR TP53
22 house allergic alveolitis 10.3 CDKN2A MDM2 TP53
23 acute mountain sickness 10.3 CDKN1A MDM2 TP53
24 urethral verrucous carcinoma 10.3 CDKN2A PTEN TP53
25 scarlet fever 10.3 CDKN1A MDM2 TP53
26 lung clear cell-sugar-tumor 10.3 BRCA1 BRCA2 TP53
27 breast pericanalicular fibroadenoma 10.3 BRCA1 BRCA2 TP53
28 choroiditis 10.3
29 adenocarcinoma 10.3
30 bladder colloid adenocarcinoma 10.3 BRCA1 BRCA2 TP53
31 toxic megacolon 10.3 CDKN1A MDM2 TP53
32 burn scar 10.3 BRCA1 BRCA2
33 kunjin encephalitis 10.2 BRCA1 BRCA2
34 chronic monocytic leukemia 10.2 CDKN2A EGFR TP53
35 thymus squamous cell carcinoma 10.2 CDKN2A EGFR TP53
36 mediastinum synovial sarcoma 10.2 BRCA1 BRCA2 TP53
37 fallopian tube carcinosarcoma 10.2 BRCA1 BRCA2 TP53
38 secondary hyperparathyroidism of renal origin 10.2 CDKN2A EGFR TP53
39 cellular ependymoma 10.2 BRCA1 BRCA2 TP53
40 mycobacterium kansasii 10.2 BRCA1 BRCA2 TP53
41 pericardium leiomyoma 10.2 CDKN2A TP53
42 pityriasis rosea 10.2 CDKN2A EGFR TP53
43 herpes simplex encephalitic 6 10.2 BRCA2 PTEN TP53
44 metagonimiasis 10.2 BRCA1 BRCA2 TP53
45 fallopian tube adenocarcinoma 10.2 CDKN1A CDKN2A TP53
46 brain stem angioblastoma 10.2 IDH1 MDM2 TP53
47 maxillary sinus cholesteatoma 10.2 CDKN1A CDKN2A TP53
48 cervical adenoid cystic carcinoma 10.2 NF1 TP53
49 brain oligodendroglioma 10.2 IDH1 MDM2 TP53
50 apocrine sweat gland neoplasm 10.2 CDKN2A IDH1 MDM2

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



Diseases related to Li-Fraumeni Syndrome

Symptoms & Phenotypes for Li-Fraumeni Syndrome

Symptoms by clinical synopsis from OMIM:

151623

Clinical features from OMIM:

151623 609265

Human phenotypes related to Li-Fraumeni Syndrome:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sarcoma 56 32 Very frequent (99-80%) HP:0100242
2 neoplasm of the skin 56 32 Very frequent (99-80%) HP:0008069
3 lymphoma 56 32 Very frequent (99-80%) HP:0002665
4 breast carcinoma 56 32 Very frequent (99-80%) HP:0003002
5 neoplasm of the adrenal cortex 56 32 Very frequent (99-80%) HP:0100641
6 progressive encephalopathy 56 32 Very frequent (99-80%) HP:0002448
7 osteosarcoma 56 32 Very frequent (99-80%) HP:0002669
8 melanoma 56 32 Occasional (29-5%) HP:0002861
9 neoplasm of the pancreas 56 32 Very frequent (99-80%) HP:0002894
10 neoplasm of the nervous system 56 32 Very frequent (99-80%) HP:0004375
11 neoplasm of the colon 56 32 Very frequent (99-80%) HP:0100273
12 neoplasm 56 Very frequent (99-80%)
13 lung adenocarcinoma 32 HP:0030078
14 colon cancer 32 HP:0003003
15 adrenocortical carcinoma 32 HP:0006744
16 acute leukemia 32 HP:0002488
17 meningioma 32 HP:0002858
18 stomach cancer 32 HP:0012126
19 nephroblastoma 32 HP:0002667
20 glioma 32 HP:0009733
21 prostate neoplasm 32 HP:0100787
22 prostate cancer 32 HP:0012125
23 soft tissue sarcoma 32 HP:0030448

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.03 EGFR
2 Decreased viability GR00221-A-1 10.03 CDKN2A EGFR NF1
3 Decreased viability GR00221-A-2 10.03 CHEK2 NF1
4 Decreased viability GR00221-A-3 10.03 ATM CDKN2A CHEK2
5 Decreased viability GR00221-A-4 10.03 ATM CDKN2A CHEK2 EGFR NF1
6 Decreased viability GR00342-S-2 10.03 CHEK2
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.97 MLH1 CDKN1A PTEN CDKN2A TP53 CHEK2
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.97 MLH1 CDKN1A PTEN CDKN2A TP53 CHEK2
9 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.65 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
10 Apoptosis resistance GR00093-A-0 9.62 CHEK2 PTEN ATM CDKN2A
11 Decreased sensitivity to paclitaxel GR00112-A-0 9.26 NF1 PTEN

MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.48 ATM BAX BCL2 BRCA1 BRCA2 CAV1
2 endocrine/exocrine gland MP:0005379 10.46 CAV1 CDKN1A CDKN2A CHEK2 EGFR MDM2
3 homeostasis/metabolism MP:0005376 10.45 CHEK2 EGFR IDH1 MDM2 MLH1 NF1
4 behavior/neurological MP:0005386 10.43 PTEN TP53 ATM BAX BCL2 BRCA1
5 hematopoietic system MP:0005397 10.43 EGFR IDH1 MDM2 NF1 PTEN TP53
6 growth/size/body region MP:0005378 10.42 ATM BAX BCL2 BRCA1 BRCA2 CAV1
7 immune system MP:0005387 10.41 ATM BAX BCL2 BRCA1 BRCA2 CAV1
8 digestive/alimentary MP:0005381 10.38 BRCA1 BRCA2 CAV1 CDKN1A CDKN2A EGFR
9 mortality/aging MP:0010768 10.38 BAX BCL2 BRCA1 BRCA2 CAV1 CDKN1A
10 cardiovascular system MP:0005385 10.35 NF1 PTEN TP53 ATM BCL2 BRCA1
11 integument MP:0010771 10.34 CDKN2A EGFR MDM2 MLH1 NF1 PTEN
12 neoplasm MP:0002006 10.31 ATM BAX BCL2 BRCA1 BRCA2 CAV1
13 embryo MP:0005380 10.29 ATM BRCA1 BRCA2 CDKN1A CDKN2A EGFR
14 nervous system MP:0003631 10.25 TP53 ATM BAX BCL2 BRCA1 BRCA2
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 NF1 PTEN TP53 BAX BRCA1 BRCA2
18 liver/biliary system MP:0005370 10.1 CAV1 CDKN1A CDKN2A EGFR MDM2 NF1
19 reproductive system MP:0005389 10.07 CDKN2A EGFR MDM2 MLH1 PTEN TP53
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 9.93 BAX BCL2 BRCA1 CAV1 CDKN1A CDKN2A
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 top 50) (show all 102)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 4,Phase 2,Phase 1
2 Anti-Infective Agents, Local Phase 4
3 cadexomer iodine Phase 4
4
Iodine Phase 4 7553-56-2 807
5 Micronutrients Phase 4
6 Trace Elements Phase 4
7
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
8
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
9
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
10
Epirubicin Approved Phase 3 56420-45-2 41867
11
Lenograstim Approved Phase 3,Phase 2 135968-09-1
12
Docetaxel Approved May 1996, Investigational Phase 3,Phase 2 114977-28-5 148124 9877265
13 Antimetabolites Phase 3,Phase 2,Phase 1
14 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
15 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
16 Alkylating Agents Phase 3,Phase 2
17 Anti-Bacterial Agents Phase 3,Phase 2
18 Antibiotics, Antitubercular Phase 3,Phase 2
19 Antimitotic Agents Phase 3,Phase 2
20 Antineoplastic Agents, Alkylating Phase 3,Phase 2
21 Antirheumatic Agents Phase 3,Phase 2
22 taxane Phase 3
23 Topoisomerase Inhibitors Phase 3,Phase 1,Phase 2
24 Receptors, Antigen, B-Cell Phase 3
25
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
26
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
27
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 498142 38904
28
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
29
Etoposide Approved Phase 1, Phase 2 33419-42-0 36462
30
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
31
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
32
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
33
Mesna Approved Phase 2 3375-50-6 598
34
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
35
Lenalidomide Approved Phase 2 191732-72-6 216326
36
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
37
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
38
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
39
Dimethyl sulfoxide Approved, Vet_approved Phase 1, Phase 2 67-68-5 679
40
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
41
Peginterferon alfa-2b Approved Phase 1, Phase 2 99210-65-8, 215647-85-1
42
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
43
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
44
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
45
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
46
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4
47
Coal tar Approved Phase 2 8007-45-2
48
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
49
Doxil Approved June 1999 Phase 2 31703
50 Albumin-Bound Paclitaxel Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 95)
id Name Status NCT ID Phase
1 rAd-p53 Gene Therapy for Advanced Oral and Maxillofacial Malignant Tumors Unknown status NCT00902083 Phase 4
2 rAd-p53 Gene Therapy for Advanced Malignant Thyroid Tumors Unknown status NCT00902122 Phase 4
3 p53 Gene Therapy for Head and Neck Malignant Tumors in Advanced Stage Unknown status NCT00894153 Phase 4
4 Study to Compare the Overall Survival of Patients Receiving INGN 201 (Study Drug) With Patients Receiving Methotrexate Unknown status NCT00041613 Phase 3
5 Effectiveness and Safety of INGN 201 in Combination With Chemotherapy Versus Chemotherapy Alone Unknown status NCT00041626 Phase 3
6 Biomarker (p53 Gene) Analysis and Combination Chemotherapy Followed by Radiation Therapy and Surgery in Treating Women With Large Operable or Locally Advanced or Inflammatory Breast Cancer Completed NCT00017095 Phase 3
7 LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome) Recruiting NCT01464086 Phase 3
8 A Study Evaluating Venetoclax in Subjects With Chronic Lymphocytic Leukemia Whose Cancer Has Come Back or Who Had No Response to Previous Cancer Treatments Including Subjects Missing Part of Their Chromosome 17, or TP53 Gene Mutation; or Who Received Prio Recruiting NCT02980731 Phase 3
9 Surgery Combined With rAd-p53 Gene in Treatment Advanced Non-small-cell Carcinoma Unknown status NCT01574729 Phase 2
10 Recombinant Adenoviral Human p53 Gene in Treatment of Malignant Pleural Effusion Unknown status NCT02429726 Phase 2
11 Gene Therapy in Treating Patients With Recurrent Head and Neck Cancer Unknown status NCT00003257 Phase 2
12 Duct Endoscopy in Assessing Cellular Atypia in the Breast Duct Fluid of Women With a Genetic Risk for Breast Cancer Unknown status NCT00082979 Phase 2
13 Preoperative TPF Chemotherapy in a Population of Molecularly Selected Locally Advanced Resectable Oral Cavity Squamous Cell Cancer Unknown status NCT01914900 Phase 2
14 Gene Therapy in Preventing Cancer in Patients With Premalignant Carcinoma of the Oral Cavity or Pharynx Completed NCT00064103 Phase 1, Phase 2
15 Low Dose Arsenic Trioxide as a Potential Chemotherapy Protector Completed NCT01428128 Phase 2
16 A Study of MK-1775 in Combination With Paclitaxel and Carboplatin Versus Paclitaxel and Carboplatin Alone for Participants With Platinum-Sensitive Ovarian Tumors With the P53 Gene Mutation (MK-1775-004) Completed NCT01357161 Phase 2
17 Chemotherapy Followed By Vaccine Therapy in Treating Patients With Extensive-Stage Small Cell Lung Cancer Completed NCT00049218 Phase 1, Phase 2
18 Chemotherapy Combined With Gene Therapy in Treating Patients Who Have Stage III or Stage IV Breast Cancer Completed NCT00044993 Phase 2
19 Phase II Study of Metastatic Cancer That Overexpresses P53 Using Lymphodepleting Conditioning Followed by Infusion of Anti-P53 TCR-Gene Engineered Lymphocytes Completed NCT00393029 Phase 2
20 A Study of the Effects of PEITC on Oral Cells With Mutant p53 Completed NCT01790204 Phase 1, Phase 2
21 Pilot Study to Establish Safety & Efficacy of a Combination of Dexamethasone and Lenalidomide in Patients With Relapsed or Refractory Chronic Lymphocytic Leukaemia (CLL) Completed NCT01459211 Phase 2
22 A Study of Cetuximab(Erbitux) With Cisplatin and Capecitabine(Xeloda)as 1st Line Treatment in the Advanced Gastric Cancer Completed NCT00477711 Phase 2
23 Nitroglycerin in Non-small Cell Lung Cancer Completed NCT01210378 Phase 2
24 A Phase I/II Trial of Crolibulin (EPC2407) Plus Cisplatin in Adults With Solid Tumors With a Focus on Anaplastic Thyroid Cancer (ATC) Completed NCT01240590 Phase 1, Phase 2
25 p53 Synthetic Long Peptides Vaccine With Cyclophosphamide for Ovarian Cancer Completed NCT00844506 Phase 2
26 Chemo-immunotherapy (Gemcitabine, Interferon-alpha 2b and p53 SLP) in Patients With Platinum-resistant Ovarian Cancer Completed NCT01639885 Phase 1, Phase 2
27 QUILT-2.008: Study of ALT-801 With Cisplatin in Patients With Metastatic Melanoma Completed NCT01029873 Phase 1, Phase 2
28 Oral Isotretinoin Versus Topical Tretinoin for Actinic Keratosis Completed NCT02278861 Phase 2
29 Trans-catheter Arterial Embolization Combined With p53 Gene Therapy for Treatment of Advanced Hepatocellular Carcinoma Recruiting NCT02509169 Phase 2
30 Trans-catheter Chemo-embolization Combined With rAd-p53 Gene Injection in Treatment of Advanced Hepatocellular Carcinoma Recruiting NCT02418988 Phase 2
31 Phase II Study of Combined Temozolomide and SGT-53 for Treatment of Recurrent Glioblastoma Recruiting NCT02340156 Phase 2
32 Study of Combined SGT-53 Plus Gemcitabine/Nab-Paclitaxel for Metastatic Pancreatic Cancer Recruiting NCT02340117 Phase 2
33 ALRN-6924 in Patients With Advanced Solid Tumors or Lymphomas Recruiting NCT02264613 Phase 1, Phase 2
34 Window Trial 5-aza in HNSCC, T-tare Recruiting NCT02178072 Phase 2
35 Phase II, Single-arm Study of AZD1775 Monotherapy in Relapsed Small Cell Lung Cancer Patients Recruiting NCT02593019 Phase 2
36 Gemcitabine Hydrochloride With or Without WEE1 Inhibitor MK-1775 in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Recruiting NCT02101775 Phase 2
37 To Immunize Patients With Extensive Stage SCLC Combined With Chemo With or Without All Trans Retinoic Acid Active, not recruiting NCT00617409 Phase 2
38 Transrectal Tumour Oxygen - US Army Active, not recruiting NCT00160979 Phase 2
39 A Study of ALT-801 in Patients With Bacillus Calmette-Guerin (BCG) Failure Non-Muscle Invasive Bladder Cancer Active, not recruiting NCT01625260 Phase 1, Phase 2
40 A Study of ALT-801 in Combination With Cisplatin and Gemcitabine in Muscle Invasive or Metastatic Urothelial Cancer Active, not recruiting NCT01326871 Phase 1, Phase 2
41 p53 Gene Therapy in Treatment of Diabetes Concurrent With Hepatocellular Carcinoma Not yet recruiting NCT02561546 Phase 2
42 p53 Gene in Treatment of Recurrent Ovarian Epithelial Cancer, Fallopian Tube Cancer, and Primary Peritoneal Cancer Not yet recruiting NCT02435186 Phase 2
43 P53 Gene Combined With Radio- and Chemo-therapy in Treatment of Unresectable Locally Advanced Head and Neck Cancer Not yet recruiting NCT02429037 Phase 2
44 The p53 Colorectal Cancer Trial Not yet recruiting NCT03149679 Phase 2
45 Phase II, Single-arm Study of AZD1775 Monotherapy in Relapsed Small Cell Lung Cancer Patients With MYC Family Amplification or CDKN2A Mutation Combined With TP53 Mutation Not yet recruiting NCT02688907 Phase 2
46 P53MVA and Pembrolizumab in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Not yet recruiting NCT03113487 Phase 2
47 S0011, Gene Therapy & Surgery Followed by Chemo & RT in Newly Diagnosed Cancer of the Mouth or Throat Terminated NCT00017173 Phase 2
48 Autologous SCT Followed by Dendritic Cell p53 Vaccination in Patients With Limited Stage Small Cell Lung Cancer Terminated NCT00776295 Phase 2
49 QUILT-3.020: A Study of ALT-801 in Patients With Relapsed or Refractory Multiple Myeloma Terminated NCT01670994 Phase 1, Phase 2
50 Aezea® (Cenersen) and Chemotherapy for AML Subjects ≥ 55 Years of Age With No Response to Frontline Induction Course Withdrawn NCT00967512 Phase 2

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:

id Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 29 24 TP53
2 Li-Fraumeni Syndrome 2 29
3 Li-Fraumeni Syndrome 1 29

Anatomical Context for Li-Fraumeni Syndrome

MalaCards organs/tissues related to Li-Fraumeni Syndrome:

39
Breast, Brain, Adrenal Gland, Bone, Testes, Lung, Prostate

Publications for Li-Fraumeni Syndrome

Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 260)
id Title Authors Year
1
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
2
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
3
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome. ( 28303452 )
2017
4
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. ( 28356770 )
2017
5
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. ( 27726232 )
2017
6
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO. ( 28137790 )
2017
7
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. ( 28160093 )
2017
8
Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. ( 28114597 )
2017
9
The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome. ( 28154273 )
2017
10
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. ( 27869650 )
2017
11
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
12
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. ( 28279309 )
2017
13
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. ( 28270529 )
2017
14
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. ( 28301458 )
2017
15
Genetic and functional analysis of a Li Fraumeni syndrome family in China. ( 26818906 )
2016
16
Li-Fraumeni syndrome. ( 27622479 )
2016
17
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. ( 27496084 )
2016
18
Does PTEN gene mutation play any role in Li-Fraumeni syndrome. ( 27493922 )
2016
19
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient. ( 27523101 )
2016
20
A rare case of LI-Fraumeni syndrome. ( 27728568 )
2016
21
Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2. ( 27442652 )
2016
22
Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome. ( 26707089 )
2016
23
Biochemical and imaging surveillance in Li-Fraumeni syndrome - Authors' reply. ( 27819240 )
2016
24
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. ( 26823150 )
2016
25
Hsp90 and PKM2 Drive the Expression of Aromatase in Li-Fraumeni Syndrome Breast Adipose Stromal Cells. ( 27467582 )
2016
26
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. ( 27501770 )
2016
27
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing. ( 27516001 )
2016
28
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. ( 27374712 )
2016
29
Breast Cancer in A Nineteen Year Old Adolescent Female identified with Li-Fraumeni Syndrome. ( 27589880 )
2016
30
Li-Fraumeni Syndrome. ( 27617148 )
2016
31
Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni Syndrome. ( 27297285 )
2016
32
Li-Fraumeni Syndrome and p53 in 2015: Celebrating their Silver Anniversary. ( 26833171 )
2016
33
Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. ( 27984644 )
2016
34
Biochemical and imaging surveillance in Li-Fraumeni syndrome. ( 27819239 )
2016
35
Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome. ( 26621765 )
2016
36
(18)F-FDG PET-CT for Surveillance of Brazilian Patients with Li-Fraumeni Syndrome. ( 25745605 )
2015
37
Prostate Cancer and Li-Fraumeni Syndrome: Implications for Screening and Therapy. ( 26793489 )
2015
38
Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome. ( 26101242 )
2015
39
EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature. ( 25433984 )
2015
40
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. ( 25787918 )
2015
41
Caspase Activation and Aberrant Cell Growth in a p53(+/+) Cell Line from a Li-Fraumeni Syndrome Family. ( 25866679 )
2015
42
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. ( 26014290 )
2015
43
The benefit and burden of cancer screening in Li-Fraumeni syndrome: a case report. ( 26029016 )
2015
44
Primed for cancer: Li Fraumeni Syndrome and the pre-cancerous niche. ( 26082798 )
2015
45
A functional variant in miR-605 modifies the age of onset in Li-Fraumeni syndrome. ( 25683625 )
2015
46
PEComa in a Young Patient with Known Li-Fraumeni Syndrome. ( 25821471 )
2015
47
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. ( 25762628 )
2015
48
Breast implant-associated anaplastic large cell lymphoma in a patient with Li-Fraumeni syndrome. ( 25974645 )
2015
49
Radiation therapy for choroid plexus carcinoma patients with Li-Fraumeni syndrome: advantageous or detrimental? ( 25964589 )
2015
50
Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome. ( 25226867 )
2014

Variations for Li-Fraumeni Syndrome

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

66 (show top 50) (show all 84)
id Symbol AA change Variation ID SNP ID
1 CHEK2 p.Arg145Trp VAR_008554 rs137853007
2 TP53 p.Met133Thr VAR_005875 rs28934873
3 TP53 p.Ala138Pro VAR_005881 rs28934875
4 TP53 p.Cys141Tyr VAR_005886 rs587781288
5 TP53 p.Pro151Ser VAR_005895 rs28934874
6 TP53 p.Pro151Thr VAR_005896 rs28934874
7 TP53 p.Pro152Leu VAR_005897 rs587782705
8 TP53 p.Arg158Gly VAR_005906
9 TP53 p.Arg158His VAR_005907 rs587782144
10 TP53 p.Val173Met VAR_005926
11 TP53 p.Arg175Gly VAR_005929 rs138729528
12 TP53 p.Arg175Leu VAR_005930 rs28934578
13 TP53 p.Arg175His VAR_005932 rs28934578
14 TP53 p.His193Arg VAR_005948 rs786201838
15 TP53 p.Arg213Gln VAR_005955 rs587778720
16 TP53 p.Tyr220Cys VAR_005957 rs121912666
17 TP53 p.Tyr234Cys VAR_005963 rs587780073
18 TP53 p.Met237Ile VAR_005965 rs587782664
19 TP53 p.Ser241Phe VAR_005969 rs28934573
20 TP53 p.Gly245Cys VAR_005972 rs28934575
21 TP53 p.Gly245Asp VAR_005973 rs121912656
22 TP53 p.Gly245Ser VAR_005974 rs28934575
23 TP53 p.Gly245Val VAR_005975 rs121912656
24 TP53 p.Met246Val VAR_005978 rs483352695
25 TP53 p.Arg248Gln VAR_005983 rs11540652
26 TP53 p.Arg248Trp VAR_005984 rs121912651
27 TP53 p.Leu252Pro VAR_005988 rs121912653
28 TP53 p.Glu258Lys VAR_005991 rs121912652
29 TP53 p.Val272Leu VAR_005992 rs121912657
30 TP53 p.Arg273Cys VAR_005993 rs121913343
31 TP53 p.Arg273Gly VAR_005994
32 TP53 p.Arg273His VAR_005995 rs28934576
33 TP53 p.Cys275Tyr VAR_005998 rs863224451
34 TP53 p.Pro278Leu VAR_006003
35 TP53 p.Pro278Ser VAR_006004
36 TP53 p.Pro278Thr VAR_006005
37 TP53 p.Arg282Trp VAR_006016 rs28934574
38 TP53 p.Arg283Cys VAR_006017 rs149633775
39 TP53 p.Glu285Gln VAR_006024
40 TP53 p.Glu286Ala VAR_006026
41 TP53 p.Pro309Ser VAR_006038
42 TP53 p.Gly325Val VAR_006039 rs28934271
43 TP53 p.Arg337Cys VAR_006041 rs587782529
44 TP53 p.Lys292Ile VAR_015819 rs121912663
45 TP53 p.Tyr163Cys VAR_033035 rs148924904
46 TP53 p.Arg337His VAR_035016 rs121912664
47 TP53 p.Arg213Pro VAR_036506
48 TP53 p.Arg273Leu VAR_036509 rs28934576
49 TP53 p.Pro82Leu VAR_044621 rs534447939
50 TP53 p.Gly105Cys VAR_044661

ClinVar genetic disease variations for Li-Fraumeni Syndrome:

6 (show top 50) (show all 72)
id Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 CHEK2, 1-BP DEL, 1100C deletion Pathogenic,risk factor
2 CHEK2 NM_007194.3(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic/Likely pathogenic rs137853007 GRCh37 Chromosome 22, 29121242: 29121242
3 CHEK2 CHEK2, 1-BP DEL, 1422T deletion Pathogenic
4 TP53 NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs) deletion Pathogenic rs587776768 GRCh37 Chromosome 17, 7578221: 7578222
5 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
6 TP53 NM_000546.5(TP53): c.772G> A (p.Glu258Lys) single nucleotide variant Pathogenic rs121912652 GRCh37 Chromosome 17, 7577509: 7577509
7 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
8 TP53 NM_000546.5(TP53): c.755T> C (p.Leu252Pro) single nucleotide variant Pathogenic rs121912653 GRCh37 Chromosome 17, 7577526: 7577526
9 TP53 NM_000546.5(TP53): c.215C> G (p.Pro72Arg) single nucleotide variant drug response rs1042522 GRCh37 Chromosome 17, 7579472: 7579472
10 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
11 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
12 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
13 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic/Likely pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
14 TP53 NM_000546.5(TP53): c.398T> C (p.Met133Thr) single nucleotide variant Pathogenic rs28934873 GRCh37 Chromosome 17, 7578532: 7578532
15 TP53 TP53, 1-BP INS, 151C insertion Pathogenic
16 TP53 TP53, 11-BP DEL/5-BP INS indel Pathogenic
17 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
18 TP53 TP53, 1-BP DEL, CODON 257 deletion Pathogenic
19 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
20 TP53 NM_000546.5(TP53): c.1031T> C (p.Leu344Pro) single nucleotide variant Pathogenic rs121912662 GRCh37 Chromosome 17, 7573996: 7573996
21 TP53 NM_000546.5(TP53): c.412G> C (p.Ala138Pro) single nucleotide variant Pathogenic/Likely pathogenic rs28934875 GRCh37 Chromosome 17, 7578518: 7578518
22 TP53 NM_000546.5(TP53): c.532delC (p.His178Thrfs) deletion Pathogenic rs863223300 GRCh38 Chromosome 17, 7675080: 7675080
23 TP53 NM_000546.5(TP53): c.875A> T (p.Lys292Ile) single nucleotide variant Pathogenic rs121912663 GRCh37 Chromosome 17, 7577063: 7577063
24 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
25 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
26 TP53 NM_000546.5(TP53): c.*1175A> C single nucleotide variant risk factor rs78378222 GRCh37 Chromosome 17, 7571752: 7571752
27 TP53 NM_000546.5(TP53): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs397516435 GRCh37 Chromosome 17, 7578263: 7578263
28 TP53 NM_000546.5(TP53): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs397516436 GRCh37 Chromosome 17, 7578212: 7578212
29 TP53 NM_000546.5(TP53): c.77_80delTTCCinsAAGAACGT (p.Leu26Glnfs) indel Likely pathogenic rs397516438 GRCh37 Chromosome 17, 7579716: 7579719
30 TP53 NM_000546.5(TP53): c.920-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397516439 GRCh37 Chromosome 17, 7576928: 7576928
31 TP53 NM_000546.5(TP53): c.736A> G (p.Met246Val) single nucleotide variant Pathogenic/Likely pathogenic rs483352695 GRCh37 Chromosome 17, 7577545: 7577545
32 TP53 NM_000546.5(TP53): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
33 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 GRCh37 Chromosome 17, 7577580: 7577580
34 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587778720 GRCh38 Chromosome 17, 7674893: 7674893
35 TP53 NM_000546.5(TP53): c.422G> A (p.Cys141Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs587781288 GRCh37 Chromosome 17, 7578508: 7578508
36 TP53 NM_000546.5(TP53): c.1101-2A> G single nucleotide variant Pathogenic rs587781664 GRCh37 Chromosome 17, 7573010: 7573010
37 TP53 NM_000546.5(TP53): c.473G> A (p.Arg158His) single nucleotide variant Pathogenic/Likely pathogenic rs587782144 GRCh37 Chromosome 17, 7578457: 7578457
38 TP53 NM_000546.5(TP53): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913344 GRCh38 Chromosome 17, 7673704: 7673704
39 TP53 NM_000546.5(TP53): c.542G> A (p.Arg181His) single nucleotide variant Pathogenic/Likely pathogenic rs397514495 GRCh38 Chromosome 17, 7675070: 7675070
40 TP53 NM_000546.5(TP53): c.1009C> T (p.Arg337Cys) single nucleotide variant Pathogenic rs587782529 GRCh37 Chromosome 17, 7574018: 7574018
41 TP53 NM_000546.5(TP53): c.455C> T (p.Pro152Leu) single nucleotide variant Pathogenic rs587782705 GRCh37 Chromosome 17, 7578475: 7578475
42 TP53 NM_000546.5(TP53): c.267delC (p.Ser90Profs) deletion Likely pathogenic rs587783062 GRCh38 Chromosome 17, 7676102: 7676102
43 TP53 NM_000546.5(TP53): c.722C> G (p.Ser241Cys) single nucleotide variant Likely pathogenic rs28934573 GRCh38 Chromosome 17, 7674241: 7674241
44 TP53 NM_000546.5(TP53): c.1010G> C (p.Arg337Pro) single nucleotide variant Likely pathogenic rs121912664 GRCh38 Chromosome 17, 7670699: 7670699
45 TP53 NM_000546.5(TP53): c.375G> A (p.Thr125=) single nucleotide variant Pathogenic rs55863639 GRCh38 Chromosome 17, 7675994: 7675994
46 TP53 NM_000546.5(TP53): c.856G> A (p.Glu286Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786201059 GRCh37 Chromosome 17, 7577082: 7577082
47 TP53 NM_000546.5(TP53): c.1025G> C (p.Arg342Pro) single nucleotide variant Likely pathogenic rs375338359 GRCh38 Chromosome 17, 7670684: 7670684
48 TP53 NM_000546.5(TP53): c.973G> T (p.Gly325Ter) single nucleotide variant Pathogenic rs863224500 GRCh37 Chromosome 17, 7576873: 7576873
49 TP53 NM_000546.5(TP53): c.824G> A (p.Cys275Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs863224451 GRCh38 Chromosome 17, 7673796: 7673796
50 TP53 NM_000546.5(TP53): c.672+1G> A single nucleotide variant Pathogenic rs863224499 GRCh38 Chromosome 17, 7674858: 7674858

Cosmic variations for Li-Fraumeni Syndrome:

9 (show top 50) (show all 58)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM11081 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.733G>T p.G245C 5
2 COSM45255 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 5
3 COSM45256 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 5
4 COSM10813 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 5
5 COSM44536 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 5
6 COSM45253 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611A>G p.E204G 5
7 COSM45005 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 5
8 COSM10660 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 5
9 COSM13016 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.226G>C p.E76Q 5
10 COSM13014 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.214G>A p.A72T 5
11 COSM14271 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.1508G>T p.G503V 5
12 COSM13013 PTPN11 soft tissue,striated muscle,rhabdomyosarcoma,NS c.205G>A p.E69K 5
13 COSM775 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3140A>G p.H1047R 5
14 COSM763 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1633G>A p.E545K 5
15 COSM760 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1624G>A p.E542K 5
16 COSM766 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1636C>A p.Q546K 5
17 COSM1235326 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.3023C>T p.S1008F 5
18 COSM762 PIK3CA soft tissue,striated muscle,rhabdomyosarcoma,NS c.1625A>T p.E542V 5
19 COSM585 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>T p.Q61H 5
20 COSM584 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>G p.Q61R 5
21 COSM564 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 5
22 COSM580 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.181C>A p.Q61K 5
23 COSM574 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>T p.G13V 5
24 COSM569 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>C p.G13R 5
25 COSM562 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 5
26 COSM586 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.183A>C p.Q61H 5
27 COSM563 NRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>A p.G12S 5
28 COSM1745010 MYOD1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.365T>G p.L122R 5
29 COSM521 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>A p.G12D 5
30 COSM516 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 5
31 COSM553 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.182A>T p.Q61L 5
32 COSM532 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.38G>A p.G13D 5
33 COSM528 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>A p.G13S 5
34 COSM522 KRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>C p.G12A 5
35 COSM483 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.35G>T p.G12V 5
36 COSM480 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>A p.G12S 5
37 COSM496 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.181C>A p.Q61K 5
38 COSM486 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.37G>C p.G13R 5
39 COSM481 HRAS soft tissue,striated muscle,rhabdomyosarcoma,NS c.34G>T p.G12C 5
40 COSM959249 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5125G>A p.D1709N 5
41 COSM3744763 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5428G>T p.D1810Y 5
42 COSM959251 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5113G>A p.E1705K 5
43 COSM3738459 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5437G>A p.E1813K 5
44 COSM4169595 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5425G>A p.G1809R 5
45 COSM3738549 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5365-1G>T p.? 5
46 COSM3738451 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.5439G>T p.E1813D 5
47 COSM393242 DICER1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.2062C>T p.R688* 5
48 COSM5664 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.121A>G p.T41A 5
49 COSM5692 CTNNB1 soft tissue,striated muscle,rhabdomyosarcoma,NS c.134C>A p.S45Y 5
50 COSM12475 CDKN2A soft tissue,striated muscle,rhabdomyosarcoma,NS c.238C>T p.R80* 5

Copy number variations for Li-Fraumeni Syndrome from CNVD:

7
id 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 GeneCards Suite gene sharing:

(show top 50) (show all 87)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 ATM BAX BCL2 BRCA1 CDKN1A CDKN2A
2
Show member pathways
13.89 ATM BAX BRCA1 CDKN1A CDKN2A CHEK2
3
Show member pathways
13.51 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK2
4
Show member pathways
13.45 BAX BCL2 CDKN1A EGFR MDM2 PTEN
5
Show member pathways
13.1 ATM BAX BRCA1 CDKN1A CDKN2A CHEK2
6
Show member pathways
13.07 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A
7
Show member pathways
12.99 ATM BRCA1 BRCA2 CHEK2 MLH1 TP53
8
Show member pathways
12.92 ATM BAX BCL2 CDKN1A CDKN2A MDM2
9
Show member pathways
12.81 ATM BRCA1 BRCA2 CDKN1A CHEK2 MDM2
10
Show member pathways
12.79 CDKN1A EGFR MDM2 PTEN TP53
11 12.79 BAX BCL2 BRCA2 CDKN1A CDKN2A EGFR
12
Show member pathways
12.74 ATM BRCA1 CDKN1A CHEK2 MDM2 TP53
13 12.72 BCL2 BRCA1 CDKN1A EGFR MDM2 PTEN
14
Show member pathways
12.66 BAX BCL2 CDKN1A EGFR TP53
15 12.65 ATM BCL2 BRCA1 CDKN1A CDKN2A EGFR
16
Show member pathways
12.64 ATM CDKN1A CDKN2A MDM2 TP53
17 12.63 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK2
18
Show member pathways
12.57 ATM BAX BCL2 CHEK2 EGFR MDM2
19 12.55 ATM BAX CDKN1A CDKN2A CHEK2 TP53
20
Show member pathways
12.52 BAX BCL2 CDKN1A EGFR MDM2 MLH1
21
Show member pathways
12.5 BAX CDKN1A MDM2 PTEN TP53
22 12.5 ATM CDKN1A CDKN2A CHEK2 MDM2 TP53
23
Show member pathways
12.49 ATM BAX BRCA1 CDKN1A CDKN2A CHEK2
24
Show member pathways
12.42 ATM BRCA1 CHEK2 TP53
25
Show member pathways
12.41 ATM CDKN1A CDKN2A TP53
26 12.4 CAV1 CDKN1A EGFR MDM2 TP53
27 12.4 BAX CDKN1A CDKN2A MDM2 TP53
28
Show member pathways
12.37 CDKN1A EGFR MDM2 TP53
29 12.36 BCL2 CDKN1A MDM2 TP53
30
Show member pathways
12.33 ATM BAX BCL2 BRCA1 CDKN1A CHEK2
31 12.3 ATM CDKN1A MDM2 TP53
32 12.3 BAX CDKN1A EGFR MLH1 TP53
33
Show member pathways
12.29 BRCA1 CDKN1A CDKN2A CHEK2
34
Show member pathways
12.29 CDKN1A EGFR MDM2 PTEN TP53
35 12.25 BAX BCL2 CDKN1A MDM2 PTEN TP53
36 12.25 ATM BAX BCL2 BRCA1 BRCA2 CHEK2
37
Show member pathways
12.24 CAV1 CDKN1A EGFR MDM2 PTEN
38
Show member pathways
12.23 BRCA2 CDKN1A CDKN2A EGFR MDM2 TP53
39
Show member pathways
12.21 ATM CDKN1A EGFR MDM2 PTEN
40 12.14 CDKN1A CDKN2A EGFR MDM2 NF1 PTEN
41 12.14 BAX BCL2 CAV1 CDKN1A EGFR MDM2
42 12.12 ATM BAX BCL2 CDKN1A CDKN2A MDM2
43 12.1 BCL2 CDKN1A CDKN2A MDM2 PTEN TP53
44 12.09 BAX BCL2 PTEN TP53
45 12.09 ATM BAX BCL2 CDKN1A CDKN2A CHEK2
46 12.03 BRCA1 CAV1 CDKN1A EGFR MDM2 PTEN
47
Show member pathways
12 ATM BRCA1 CDKN1A CHEK2 MDM2 TP53
48
Show member pathways
11.97 ATM BRCA1 BRCA2 CHEK2 TP53
49 11.92 BRCA1 BRCA2 MLH1
50 11.92 BAX CDKN1A MDM2 TP53

GO Terms for Li-Fraumeni Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
2 pore complex GO:0046930 9.26 BAX BCL2
3 protein complex GO:0043234 9.17 BCL2 BRCA1 BRCA2 CAV1 CDKN1A MDM2
4 nucleus GO:0005634 10 ATM BAX BCL2 BRCA1 BRCA2 CDKN1A

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

(show top 50) (show all 68)
id Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.99 ATM CDKN1A CDKN2A TP53
2 regulation of apoptotic process GO:0042981 9.99 ATM BAX BCL2 BRCA1 CHEK2 TP53
3 response to organic cyclic compound GO:0014070 9.98 CDKN1A EGFR IDH1 PTEN
4 negative regulation of cell growth GO:0030308 9.96 BCL2 CDKN1A CDKN2A TP53
5 regulation of cell cycle GO:0051726 9.95 ATM BAX BCL2 CDKN1A PTEN
6 cellular response to hypoxia GO:0071456 9.94 BCL2 MDM2 PTEN TP53
7 regulation of signal transduction by p53 class mediator GO:1901796 9.93 ATM BRCA1 CHEK2 MDM2 TP53
8 response to toxic substance GO:0009636 9.91 BAX BCL2 CDKN1A MDM2
9 post-embryonic development GO:0009791 9.9 ATM BAX BCL2
10 double-strand break repair via homologous recombination GO:0000724 9.9 ATM BRCA1 BRCA2
11 regulation of protein stability GO:0031647 9.9 BCL2 CDKN2A PTEN
12 cellular response to drug GO:0035690 9.89 CHEK2 EGFR TP53
13 double-strand break repair GO:0006302 9.89 BRCA1 BRCA2 CHEK2
14 double-strand break repair via nonhomologous end joining GO:0006303 9.89 ATM BRCA1 MLH1
15 response to ionizing radiation GO:0010212 9.88 ATM BAX BRCA1
16 Ras protein signal transduction GO:0007265 9.88 CDKN1A CDKN2A NF1 TP53
17 ovarian follicle development GO:0001541 9.87 ATM BAX BCL2
18 neuron apoptotic process GO:0051402 9.86 ATM BAX BCL2
19 positive regulation of neuron apoptotic process GO:0043525 9.86 ATM BAX NF1 TP53
20 response to steroid hormone GO:0048545 9.85 BCL2 IDH1 MDM2
21 cellular response to organic substance GO:0071310 9.85 BAX BCL2 MDM2
22 DNA synthesis involved in DNA repair GO:0000731 9.85 ATM BRCA1 BRCA2
23 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.84 BAX BCL2 NF1
24 negative regulation of fibroblast proliferation GO:0048147 9.83 BAX NF1 TP53
25 intrinsic apoptotic signaling pathway GO:0097193 9.83 BAX CDKN1A TP53
26 cell aging GO:0007569 9.82 BCL2 BRCA2 TP53
27 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.81 BCL2 CDKN1A PTEN
28 strand displacement GO:0000732 9.8 ATM BRCA1 BRCA2
29 response to gamma radiation GO:0010332 9.8 BAX BCL2 BRCA2 CHEK2 TP53
30 apoptotic mitochondrial changes GO:0008637 9.78 BAX BCL2 CDKN2A
31 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.78 BAX BCL2 CAV1 TP53
32 female gonad development GO:0008585 9.77 ATM BRCA2 IDH1
33 response to X-ray GO:0010165 9.77 BRCA2 CDKN1A TP53
34 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.76 BRCA2 CDKN1A CHEK2 TP53
35 response to arsenic-containing substance GO:0046685 9.74 CDKN1A PTEN
36 determination of adult lifespan GO:0008340 9.74 ATM TP53
37 regulation of cell-matrix adhesion GO:0001952 9.74 BCL2 NF1
38 regulation of synaptic transmission, GABAergic GO:0032228 9.74 NF1 PTEN
39 oocyte development GO:0048599 9.73 ATM BCL2
40 positive regulation of calcium ion transport into cytosol GO:0010524 9.73 BAX CAV1
41 regulation of mitochondrial membrane permeability GO:0046902 9.73 BCL2 TP53
42 forebrain morphogenesis GO:0048853 9.73 NF1 PTEN
43 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.73 ATM BAX CDKN1A CHEK2 MDM2 TP53
44 meiotic telomere clustering GO:0045141 9.72 ATM MLH1
45 cellular response to gamma radiation GO:0071480 9.72 ATM CDKN1A CHEK2 MDM2 TP53
46 DNA damage induced protein phosphorylation GO:0006975 9.71 ATM CHEK2
47 regulation of protein heterodimerization activity GO:0043497 9.71 BAX BCL2
48 regulation of protein homodimerization activity GO:0043496 9.71 BAX BCL2
49 signal transduction by p53 class mediator GO:0072331 9.7 CDKN1A TP53
50 leukocyte homeostasis GO:0001776 9.7 BAX BCL2

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

id Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.8 BAX BCL2 CAV1 EGFR TP53
2 identical protein binding GO:0042802 9.76 BAX BCL2 CAV1 CHEK2 EGFR MDM2
3 enzyme binding GO:0019899 9.73 BRCA1 CAV1 EGFR MDM2 PTEN TP53
4 protease binding GO:0002020 9.65 BCL2 BRCA2 TP53
5 protein phosphatase binding GO:0019903 9.54 BCL2 EGFR TP53
6 protein kinase binding GO:0019901 9.5 CAV1 CDKN1A CDKN2A CHEK2 EGFR PTEN
7 channel activity GO:0015267 9.46 BAX BCL2
8 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.43 CDKN1A CDKN2A
9 BH3 domain binding GO:0051434 9.32 BAX BCL2
10 ubiquitin protein ligase binding GO:0031625 9.17 BCL2 BRCA1 CDKN1A CHEK2 EGFR MDM2

Sources for Li-Fraumeni Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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