LFS2
MCID: LFR007
MIFTS: 48

Li-Fraumeni Syndrome 2 (LFS2)

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

Aliases & Classifications for Li-Fraumeni Syndrome 2

MalaCards integrated aliases for Li-Fraumeni Syndrome 2:

Name: Li-Fraumeni Syndrome 2 57 75 29 6 73
Li-Fraumeni Syndrome 57 73
Lfs2 57 75
Li-Fraumeni Syndrome, Type 2 40

Characteristics:

HPO:

32
li-fraumeni syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Li-Fraumeni Syndrome 2

UniProtKB/Swiss-Prot : 75 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 2, also known as li-fraumeni syndrome, is related to li-fraumeni syndrome and adrenocortical carcinoma, hereditary. An important gene associated with Li-Fraumeni Syndrome 2 is CHEK2 (Checkpoint Kinase 2), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Cell Cycle Checkpoints. The drugs Hyaluronic acid and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and testes, and related phenotypes are sarcoma and breast carcinoma

Description from OMIM: 609265

Related Diseases for Li-Fraumeni Syndrome 2

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2

Diseases related to Li-Fraumeni Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 34.5 CHEK2 TP53
2 adrenocortical carcinoma, hereditary 32.5 CHEK2 TP53
3 sarcoma 30.6 CHEK2 TP53
4 hereditary breast ovarian cancer syndrome 30.0 CHEK2 TP53
5 ataxia-telangiectasia 30.0 CHEK2 TP53
6 osteogenic sarcoma 30.0 CHEK2 TP53
7 gastric cancer 11.8
8 glioblastoma 11.7
9 soft tissue sarcoma 11.7
10 medulloblastoma 11.3
11 adrenal carcinoma 11.3
12 familial stomach cancer 11.3
13 pilocytic astrocytoma 11.3
14 breast cancer 10.5
15 adenocarcinoma 10.5
16 lung cancer susceptibility 3 10.5
17 rhabdomyosarcoma 10.4
18 ovarian cancer 10.3
19 melanoma 10.3
20 liposarcoma 10.3
21 choroid plexus cancer 10.3
22 colorectal cancer 10.3
23 angiosarcoma 10.3
24 lymphoma 10.3
25 leiomyosarcoma 10.3
26 lynch syndrome 10.3
27 adrenal cortical adenocarcinoma 10.3
28 gastric cancer, hereditary diffuse 10.1
29 melanoma, cutaneous malignant 1 10.1
30 prostate cancer 10.1
31 autism 10.1
32 lung cancer 10.1
33 lymphoma, hodgkin, classic 10.1
34 myxoid liposarcoma 10.1
35 anaplastic large cell lymphoma 10.1
36 leukemia 10.1
37 familial adenomatous polyposis 10.1
38 small cell carcinoma 10.1
39 mucosal melanoma 10.1
40 autism spectrum disorder 10.1
41 peritoneal mesothelioma 10.1
42 breast sarcoma 10.1
43 gliosarcoma 10.1
44 gastric adenocarcinoma 10.1
45 benign ependymoma 10.1
46 cutaneous leiomyosarcoma 10.1
47 pleomorphic carcinoma 10.1
48 atypical lipomatous tumor 10.1
49 pleomorphic liposarcoma 10.1
50 cowden disease 10.1

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome 2:



Diseases related to Li-Fraumeni Syndrome 2

Symptoms & Phenotypes for Li-Fraumeni Syndrome 2

Clinical features from OMIM:

609265

Human phenotypes related to Li-Fraumeni Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 sarcoma 32 HP:0100242
2 breast carcinoma 32 HP:0003002
3 meningioma 32 HP:0002858
4 stomach cancer 32 HP:0012126
5 glioma 32 HP:0009733

GenomeRNAi Phenotypes related to Li-Fraumeni Syndrome 2 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.44 CHEK2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.44 TP53
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.44 CHEK2 TP53
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.44 CHEK2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.44 TP53
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.44 TP53
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.44 TP53
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.44 TP53
9 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.44 CHEK2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.44 TP53
11 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.44 TP53
12 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.44 CHEK2

Drugs & Therapeutics for Li-Fraumeni Syndrome 2

Drugs for Li-Fraumeni Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Not Applicable 9004-61-9 53477741
2 Immunologic Factors Not Applicable
3 Adjuvants, Immunologic Not Applicable
4 Protective Agents Not Applicable
5 Viscosupplements Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 This Study Will Evaluate the Effectiveness of Juvéderm® VOLIFT™ With Lidocaine for Lip Augmentation Recruiting NCT03796728 Phase 4
2 Safety and Effectiveness of Juvederm(R) Ultra XC Injectable Gel for Lip Augmentation Completed NCT01197495 Not Applicable

Search NIH Clinical Center for Li-Fraumeni Syndrome 2

Genetic Tests for Li-Fraumeni Syndrome 2

Genetic tests related to Li-Fraumeni Syndrome 2:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 2 29 CHEK2

Anatomical Context for Li-Fraumeni Syndrome 2

MalaCards organs/tissues related to Li-Fraumeni Syndrome 2:

41
Bone, Brain, Testes, Lung, Breast, Prostate, Myeloid

Publications for Li-Fraumeni Syndrome 2

Articles related to Li-Fraumeni Syndrome 2:

(show top 50) (show all 308)
# Title Authors Year
1
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome: Erratum. ( 30489338 )
2019
2
Contribution of de novo and mosaic<i>TP53</i>mutations to Li-Fraumeni syndrome. ( 29070607 )
2018
3
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. ( 29077256 )
2018
4
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. ( 29392648 )
2018
5
Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives. ( 29946497 )
2018
6
Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic <i>TP53</i> Mutation. ( 29752319 )
2018
7
Li-Fraumeni Syndrome-Related Malignancies Involving the Genitourinary Tract: Review of a Single-Institution Experience. ( 29935265 )
2018
8
What Should a Gynecologist Know about Li-Fraumeni Syndrome? Lessons from a Patient Undergoing Hysterectomy for Benign Indications. ( 29945152 )
2018
9
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. ( 29955864 )
2018
10
Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome. ( 29893455 )
2018
11
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome. ( 29416929 )
2018
12
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. ( 29076966 )
2018
13
Radiation-associated Angiosarcoma Mimicking Fallopian Tube High-grade Serous Carcinoma in a Woman With De Novo Li-Fraumeni Syndrome. ( 29620582 )
2018
14
Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma. ( 30196175 )
2018
15
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells. ( 29985349 )
2018
16
A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome? ( 30004834 )
2018
17
Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer. ( 30009566 )
2018
18
Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. ( 30076369 )
2018
19
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. ( 30086788 )
2018
20
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. ( 30107858 )
2018
21
Families' and health care professionals' attitudes towards Li-Fraumeni syndrome testing in children: A systematic review. ( 30191952 )
2018
22
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. ( 30216591 )
2018
23
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals. ( 30238178 )
2018
24
A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome. ( 30239254 )
2018
25
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. ( 30240537 )
2018
26
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. ( 30243621 )
2018
27
Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations. ( 30414230 )
2018
28
Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome. ( 30445420 )
2018
29
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
30
Colon Pathology Characteristics in Li-Fraumeni Syndrome. ( 28624650 )
2017
31
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. ( 28573494 )
2017
32
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? ( 28983852 )
2017
33
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. ( 28160093 )
2017
34
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. ( 27869650 )
2017
35
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
36
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
37
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. ( 28772286 )
2017
38
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. ( 28270529 )
2017
39
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. ( 28356770 )
2017
40
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. ( 28818333 )
2017
41
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. ( 28279309 )
2017
42
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. ( 28572266 )
2017
43
Cancer Screening in Li-Fraumeni Syndrome. ( 28772307 )
2017
44
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. ( 28301458 )
2017
45
Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. ( 28114597 )
2017
46
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. ( 28772294 )
2017
47
Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. ( 28902083 )
2017
48
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. ( 27726232 )
2017
49
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO. ( 28137790 )
2017
50
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes. ( 28592622 )
2017

Variations for Li-Fraumeni Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Li-Fraumeni Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 CHEK2 p.Arg145Trp VAR_008554 rs137853007

ClinVar genetic disease variations for Li-Fraumeni Syndrome 2:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 CHEK2, 1-BP DEL, 1100C deletion Pathogenic,risk factor
2 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh37 Chromosome 22, 29121087: 29121087
3 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh38 Chromosome 22, 28725099: 28725099
4 CHEK2 NM_007194.4(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 GRCh37 Chromosome 22, 29121242: 29121242
5 CHEK2 NM_007194.4(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 GRCh38 Chromosome 22, 28725254: 28725254
6 CHEK2 CHEK2, 1-BP DEL, 1422T deletion Pathogenic
7 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh37 Chromosome 22, 29091207: 29091207
8 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh38 Chromosome 22, 28695219: 28695219
9 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
10 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
11 CHEK2 NM_007194.3(CHEK2): c.1336A> G (p.Asn446Asp) single nucleotide variant Uncertain significance rs121908705 GRCh37 Chromosome 22, 29091154: 29091154
12 CHEK2 NM_007194.3(CHEK2): c.1336A> G (p.Asn446Asp) single nucleotide variant Uncertain significance rs121908705 GRCh38 Chromosome 22, 28695166: 28695166
13 TP53 NM_000546.5(TP53): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
14 TP53 NM_000546.5(TP53): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic rs121912666 GRCh38 Chromosome 17, 7674872: 7674872
15 CHEK2 NM_007194.3(CHEK2): c.1100delC (p.Thr367Metfs) deletion Conflicting interpretations of pathogenicity rs555607708 GRCh37 Chromosome 22, 29091857: 29091857
16 CHEK2 NM_007194.3(CHEK2): c.1100delC (p.Thr367Metfs) deletion Conflicting interpretations of pathogenicity rs555607708 GRCh38 Chromosome 22, 28695869: 28695869
17 CHEK2 NM_007194.4(CHEK2): c.1270T> C (p.Tyr424His) single nucleotide variant Conflicting interpretations of pathogenicity rs139366548 GRCh37 Chromosome 22, 29091220: 29091220
18 CHEK2 NM_007194.4(CHEK2): c.1270T> C (p.Tyr424His) single nucleotide variant Conflicting interpretations of pathogenicity rs139366548 GRCh38 Chromosome 22, 28695232: 28695232
19 CHEK2 NM_007194.4(CHEK2): c.1312G> T (p.Asp438Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200050883 GRCh37 Chromosome 22, 29091178: 29091178
20 CHEK2 NM_007194.4(CHEK2): c.1312G> T (p.Asp438Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200050883 GRCh38 Chromosome 22, 28695190: 28695190
21 CHEK2 NM_007194.4(CHEK2): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs587780180 GRCh37 Chromosome 22, 29083961: 29083961
22 CHEK2 NM_007194.4(CHEK2): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs587780180 GRCh38 Chromosome 22, 28687973: 28687973
23 CHEK2 NM_007194.3(CHEK2): c.980A> G (p.Tyr327Cys) single nucleotide variant Uncertain significance rs587780194 GRCh37 Chromosome 22, 29095854: 29095854
24 CHEK2 NM_007194.3(CHEK2): c.980A> G (p.Tyr327Cys) single nucleotide variant Uncertain significance rs587780194 GRCh38 Chromosome 22, 28699866: 28699866
25 CHEK2 NM_007194.3(CHEK2): c.1451C> T (p.Pro484Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs564605612 GRCh37 Chromosome 22, 29090030: 29090030
26 CHEK2 NM_007194.3(CHEK2): c.1451C> T (p.Pro484Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs564605612 GRCh38 Chromosome 22, 28694042: 28694042
27 CHEK2 NM_007194.3(CHEK2): c.556A> C (p.Asn186His) single nucleotide variant Conflicting interpretations of pathogenicity rs146198085 GRCh37 Chromosome 22, 29121001: 29121001
28 CHEK2 NM_007194.3(CHEK2): c.556A> C (p.Asn186His) single nucleotide variant Conflicting interpretations of pathogenicity rs146198085 GRCh38 Chromosome 22, 28725013: 28725013
29 CHEK2 NM_007194.4(CHEK2): c.319+2T> A single nucleotide variant Likely pathogenic rs587782401 GRCh37 Chromosome 22, 29130389: 29130389
30 CHEK2 NM_007194.4(CHEK2): c.319+2T> A single nucleotide variant Likely pathogenic rs587782401 GRCh38 Chromosome 22, 28734401: 28734401
31 CHEK2 NM_007194.4(CHEK2): c.1216C> T (p.Arg406Cys) single nucleotide variant Uncertain significance rs587782527 GRCh37 Chromosome 22, 29091741: 29091741
32 CHEK2 NM_007194.4(CHEK2): c.1216C> T (p.Arg406Cys) single nucleotide variant Uncertain significance rs587782527 GRCh38 Chromosome 22, 28695753: 28695753
33 CHEK2 NM_007194.3(CHEK2): c.170C> T (p.Ser57Phe) single nucleotide variant Uncertain significance rs730881695 GRCh38 Chromosome 22, 28734552: 28734552
34 CHEK2 NM_007194.3(CHEK2): c.170C> T (p.Ser57Phe) single nucleotide variant Uncertain significance rs730881695 GRCh37 Chromosome 22, 29130540: 29130540

Cosmic variations for Li-Fraumeni Syndrome 2:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6954017 NOTCH2 soft tissue,breast,sarcoma,NS c.1145A>G p.N382S 1:119968196-119968196 3
2 COSM1732355 H3F3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
3 COSM3908208 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
4 COSM3908209 soft tissue,bone,sarcoma,NS c.355C>T p.R119* 9:77815650-77815650 3

Expression for Li-Fraumeni Syndrome 2

Search GEO for disease gene expression data for Li-Fraumeni Syndrome 2.

Pathways for Li-Fraumeni Syndrome 2

Pathways related to Li-Fraumeni Syndrome 2 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 CHEK2 TP53
2
Show member pathways
12.17 CHEK2 TP53
3 12.06 CHEK2 TP53
4
Show member pathways
12.01 CHEK2 TP53
5 11.98 CHEK2 TP53
6
Show member pathways
11.94 CHEK2 TP53
7 11.92 CHEK2 TP53
8
Show member pathways
11.91 CHEK2 TP53
9
Show member pathways
11.8 CHEK2 TP53
10 11.71 CHEK2 TP53
11 11.68 CHEK2 TP53
12
Show member pathways
11.42 CHEK2 TP53
13
Show member pathways
11.38 CHEK2 TP53
14
Show member pathways
11.3 CHEK2 TP53
15 11.22 CHEK2 TP53
16 11.14 CHEK2 TP53
17 11.14 CHEK2 TP53
18
Show member pathways
11.05 CHEK2 TP53
19 10.92 CHEK2 TP53
20
Show member pathways
10.81 CHEK2 TP53
21 10.6 CHEK2 TP53
22 9.32 CHEK2 TP53

GO Terms for Li-Fraumeni Syndrome 2

Cellular components related to Li-Fraumeni Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PML body GO:0016605 8.62 CHEK2 TP53

Biological processes related to Li-Fraumeni Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.46 CHEK2 TP53
2 regulation of signal transduction by p53 class mediator GO:1901796 9.43 CHEK2 TP53
3 cellular response to drug GO:0035690 9.4 CHEK2 TP53
4 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.37 CHEK2 TP53
5 response to gamma radiation GO:0010332 9.32 CHEK2 TP53
6 cellular response to gamma radiation GO:0071480 9.26 CHEK2 TP53
7 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.16 CHEK2 TP53
8 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 CHEK2 TP53
9 replicative senescence GO:0090399 8.62 CHEK2 TP53

Molecular functions related to Li-Fraumeni Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 8.96 CHEK2 TP53
2 ubiquitin protein ligase binding GO:0031625 8.62 CHEK2 TP53

Sources for Li-Fraumeni Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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