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LFS2
MCID: LFR007
MIFTS: 50

Li-Fraumeni Syndrome 2 (LFS2)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Li-Fraumeni Syndrome 2

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MalaCards integrated aliases for Li-Fraumeni Syndrome 2:

Name: Li-Fraumeni Syndrome 2 58 76 30 6 74
Li-Fraumeni Syndrome 58 74
Lfs2 58 76
Li-Fraumeni Syndrome, Type 2 41

Characteristics:

HPO:

33
li-fraumeni syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Endocrine diseases
See all MalaCards categories (disease lists)


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Summaries for Li-Fraumeni Syndrome 2

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UniProtKB/Swiss-Prot : 76 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 Lidocaine and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and bone, and related phenotypes are sarcoma and breast carcinoma

Description from OMIM: 609265
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Related Diseases for Li-Fraumeni Syndrome 2

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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 75)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 34.5 CHEK2 TP53
2 adrenocortical carcinoma, hereditary 32.4 CHEK2 TP53
3 sarcoma 30.5 CHEK2 TP53
4 hereditary breast ovarian cancer syndrome 29.9 CHEK2 TP53
5 ataxia-telangiectasia 29.9 CHEK2 TP53
6 osteogenic sarcoma 29.9 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 10.6
15 adenocarcinoma 10.5
16 lung cancer susceptibility 3 10.5
17 melanoma 10.4
18 rhabdomyosarcoma 10.4
19 ovarian cancer 10.3
20 liposarcoma 10.3
21 choroid plexus cancer 10.3
22 colorectal cancer 10.3
23 adrenal cortical carcinoma 10.3
24 leukemia 10.3
25 angiosarcoma 10.3
26 lymphoma 10.3
27 leiomyosarcoma 10.3
28 lynch syndrome 10.3
29 adrenal cortical adenocarcinoma 10.3
30 gastric cancer, hereditary diffuse 10.1
31 melanoma, cutaneous malignant 1 10.1
32 prostate cancer 10.1
33 autism 10.1
34 lung cancer 10.1
35 lymphoma, hodgkin, classic 10.1
36 prostate cancer, hereditary, 8 10.1
37 prostate cancer, hereditary, 6 10.1
38 myxoid liposarcoma 10.1
39 anaplastic large cell lymphoma 10.1
40 familial adenomatous polyposis 10.1
41 small cell carcinoma 10.1
42 mucosal melanoma 10.1
43 autism spectrum disorder 10.1
44 thyroid cancer 10.1
45 peritoneal mesothelioma 10.1
46 breast sarcoma 10.1
47 gliosarcoma 10.1
48 gastric adenocarcinoma 10.1
49 benign ependymoma 10.1
50 cutaneous leiomyosarcoma 10.1

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



Diseases related to Li-Fraumeni Syndrome 2
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Symptoms & Phenotypes for Li-Fraumeni Syndrome 2

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Human phenotypes related to Li-Fraumeni Syndrome 2:

33
# Description HPO Frequency HPO Source Accession
1 sarcoma 33 HP:0100242
2 breast carcinoma 33 HP:0003002
3 meningioma 33 HP:0002858
4 stomach cancer 33 HP:0012126
5 glioma 33 HP:0009733

Clinical features from OMIM:

609265

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

27 (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
Sources

Drugs & Therapeutics for Li-Fraumeni Syndrome 2

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Central Nervous System Depressants Phase 4
3 Peripheral Nervous System Agents Phase 4
4 Anti-Arrhythmia Agents Phase 4
5 Sodium Channel Blockers Phase 4
6 Anesthetics Phase 4,Not Applicable
7 Anesthetics, Local Phase 4
8 Diuretics, Potassium Sparing Phase 4
9
tannic acid Approved Phase 1, Phase 2 1401-55-4
10
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
11
Nicotinamide Approved, Investigational Phase 1, Phase 2,Phase 2 98-92-0 936
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
13
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2,Phase 2 59-67-6 938
14 Vitamin B3 Phase 1, Phase 2
15 Micronutrients Phase 1, Phase 2
16 Vitamin B9 Phase 1, Phase 2
17 Folate Phase 1, Phase 2
18 Lipid Regulating Agents Phase 1, Phase 2
19 Vitamins Phase 1, Phase 2
20 Hypolipidemic Agents Phase 1, Phase 2
21 Nicotinic Acids Phase 1, Phase 2
22 Trace Elements Phase 1, Phase 2
23 Nutrients Phase 1, Phase 2
24 Vitamin B Complex Phase 1, Phase 2
25 Antimetabolites Phase 1, Phase 2
26 Vasodilator Agents Phase 1, Phase 2
27
Phosphocreatine Nutraceutical Phase 1, Phase 2 67-07-2 587
28
Metformin Approved Phase 1 657-24-9 14219 4091
29 Hypoglycemic Agents Phase 1
30
Hyaluronic acid Approved, Vet_approved Not Applicable 9004-61-9 53477741
31 Immunologic Factors Not Applicable
32 Protective Agents Not Applicable
33 Viscosupplements Not Applicable
34 Adjuvants, Immunologic Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 This Study Will Evaluate the Effectiveness of Juvéderm® VOLIFTâ„¢ With Lidocaine for Lip Augmentation Recruiting NCT03796728 Phase 4
2 LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome) Unknown status NCT01464086 Phase 3
3 Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome Recruiting NCT03789175 Phase 1, Phase 2
4 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
5 Biomarker Monitoring in TP53 Mutation Carriers Unknown status NCT02289326
6 Safety and Effectiveness of Juvederm(R) Ultra XC Injectable Gel for Lip Augmentation Completed NCT01197495 Not Applicable
7 Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome Completed NCT01737255
8 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
9 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
10 Clinical and Genetic Studies of Li-Fraumeni Syndrome Recruiting NCT01443468
11 Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System Recruiting NCT01143454
12 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
13 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
14 Li-Fraumeni Syndrome Imaging Study Enrolling by invitation NCT03176836 Not Applicable
15 Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome Enrolling by invitation NCT00406445

Search NIH Clinical Center for Li-Fraumeni Syndrome 2

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Genetic Tests for Li-Fraumeni Syndrome 2

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Genetic tests related to Li-Fraumeni Syndrome 2:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 2 30 CHEK2
Sources

Anatomical Context for Li-Fraumeni Syndrome 2

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

42
Breast, Brain, Bone, Testes, Skin, Colon, Thyroid
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Publications for Li-Fraumeni Syndrome 2

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Articles related to Li-Fraumeni Syndrome 2:

(show top 50) (show all 315)
# 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
Sources

Variations for Li-Fraumeni Syndrome 2

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

76
# 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 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.4(CHEK2): c.170C> T (p.Ser57Phe) single nucleotide variant Uncertain significance rs730881695 GRCh38 Chromosome 22, 28734552: 28734552
2 CHEK2 NM_007194.4(CHEK2): c.170C> T (p.Ser57Phe) single nucleotide variant Uncertain significance rs730881695 GRCh37 Chromosome 22, 29130540: 29130540
3 CHEK2 CHEK2, 1-BP DEL, 1100C deletion Pathogenic,risk factor
4 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh37 Chromosome 22, 29121087: 29121087
5 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh38 Chromosome 22, 28725099: 28725099
6 CHEK2 NM_007194.4(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 GRCh37 Chromosome 22, 29121242: 29121242
7 CHEK2 NM_007194.4(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 GRCh38 Chromosome 22, 28725254: 28725254
8 CHEK2 CHEK2, 1-BP DEL, 1422T deletion Pathogenic
9 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh37 Chromosome 22, 29091207: 29091207
10 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh38 Chromosome 22, 28695219: 28695219
11 CHEK2 NM_007194.4(CHEK2): c.1336A> G (p.Asn446Asp) single nucleotide variant Uncertain significance rs121908705 GRCh37 Chromosome 22, 29091154: 29091154
12 CHEK2 NM_007194.4(CHEK2): c.1336A> G (p.Asn446Asp) single nucleotide variant Uncertain significance rs121908705 GRCh38 Chromosome 22, 28695166: 28695166
13 CHEK2 NM_007194.3(CHEK2): c.1100delC (p.Thr367Metfs) deletion Conflicting interpretations of pathogenicity rs555607708 GRCh37 Chromosome 22, 29091857: 29091857
14 CHEK2 NM_007194.3(CHEK2): c.1100delC (p.Thr367Metfs) deletion Conflicting interpretations of pathogenicity rs555607708 GRCh38 Chromosome 22, 28695869: 28695869
15 CHEK2 NM_007194.4(CHEK2): c.1270T> C (p.Tyr424His) single nucleotide variant Conflicting interpretations of pathogenicity rs139366548 GRCh37 Chromosome 22, 29091220: 29091220
16 CHEK2 NM_007194.4(CHEK2): c.1270T> C (p.Tyr424His) single nucleotide variant Conflicting interpretations of pathogenicity rs139366548 GRCh38 Chromosome 22, 28695232: 28695232
17 CHEK2 NM_007194.4(CHEK2): c.1312G> T (p.Asp438Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200050883 GRCh37 Chromosome 22, 29091178: 29091178
18 CHEK2 NM_007194.4(CHEK2): c.1312G> T (p.Asp438Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200050883 GRCh38 Chromosome 22, 28695190: 28695190
19 CHEK2 NM_007194.4(CHEK2): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs587780180 GRCh37 Chromosome 22, 29083961: 29083961
20 CHEK2 NM_007194.4(CHEK2): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs587780180 GRCh38 Chromosome 22, 28687973: 28687973
21 CHEK2 NM_007194.4(CHEK2): c.980A> G (p.Tyr327Cys) single nucleotide variant Uncertain significance rs587780194 GRCh37 Chromosome 22, 29095854: 29095854
22 CHEK2 NM_007194.4(CHEK2): c.980A> G (p.Tyr327Cys) single nucleotide variant Uncertain significance rs587780194 GRCh38 Chromosome 22, 28699866: 28699866
23 CHEK2 NM_007194.4(CHEK2): c.1451C> T (p.Pro484Leu) single nucleotide variant Uncertain significance rs564605612 GRCh37 Chromosome 22, 29090030: 29090030
24 CHEK2 NM_007194.4(CHEK2): c.1451C> T (p.Pro484Leu) single nucleotide variant Uncertain significance rs564605612 GRCh38 Chromosome 22, 28694042: 28694042
25 CHEK2 NM_007194.4(CHEK2): c.556A> C (p.Asn186His) single nucleotide variant Conflicting interpretations of pathogenicity rs146198085 GRCh37 Chromosome 22, 29121001: 29121001
26 CHEK2 NM_007194.4(CHEK2): c.556A> C (p.Asn186His) single nucleotide variant Conflicting interpretations of pathogenicity rs146198085 GRCh38 Chromosome 22, 28725013: 28725013
27 CHEK2 NM_007194.4(CHEK2): c.319+2T> A single nucleotide variant Likely pathogenic rs587782401 GRCh37 Chromosome 22, 29130389: 29130389
28 CHEK2 NM_007194.4(CHEK2): c.319+2T> A single nucleotide variant Likely pathogenic rs587782401 GRCh38 Chromosome 22, 28734401: 28734401
29 CHEK2 NM_007194.4(CHEK2): c.1216C> T (p.Arg406Cys) single nucleotide variant Uncertain significance rs587782527 GRCh37 Chromosome 22, 29091741: 29091741
30 CHEK2 NM_007194.4(CHEK2): c.1216C> T (p.Arg406Cys) single nucleotide variant Uncertain significance rs587782527 GRCh38 Chromosome 22, 28695753: 28695753

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 0
2 COSM1732355 H3F3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 0
3 COSM3908208 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 0
4 COSM3908209 soft tissue,bone,sarcoma,NS c.355C>T p.R119* 9:77815650-77815650 0
Sources

Expression for Li-Fraumeni Syndrome 2

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

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Chks in Checkpoint Regulation 65
Show member pathways
 12.21 CHEK2 TP53
2
Cell Cycle Checkpoints 67
Show member pathways
 12.17 CHEK2 TP53
3
DNA Damage 4
12.06 CHEK2 TP53
4
Apoptosis Pathway 73
Show member pathways
 12.01 CHEK2 TP53
5
DNA Damage Response 1
Show member pathways
 11.94 CHEK2 TP53
6
Human T-cell leukemia virus 1 infection 38
11.92 CHEK2 TP53
7
Cell cycle 38 1
11.92 CHEK2 TP53
8
DNA Double Strand Break Response 67
Show member pathways
 11.91 CHEK2 TP53
9
p53 Signaling 65
Show member pathways
 11.8 CHEK2 TP53
10
Cellular senescence (KEGG) 38
11.71 CHEK2 TP53
11
Integrated Breast Cancer Pathway 1
11.68 CHEK2 TP53
12
ATM Pathway 65
Show member pathways
 11.42 CHEK2 TP53
13
BRCA1 Pathway 65
Show member pathways
 11.38 CHEK2 TP53
14
Regulation of TP53 Expression and Degradation 67
Show member pathways
 11.3 CHEK2 TP53
15
Pathways Affected in Adenoid Cystic Carcinoma 1
11.22 CHEK2 TP53
16
DNA damage_Role of Brca1 and Brca2 in DNA repair 23
11.14 CHEK2 TP53
17
p53 pathway 1
11.14 CHEK2 TP53
18
Proteolysis Putative SUMO-1 pathway 23
Show member pathways
 11.05 CHEK2 TP53
19
Integrated Cancer Pathway 1
10.92 CHEK2 TP53
20
Cell cycle Role of 14-3-3 proteins in cell cycle regulation 23
Show member pathways
 10.81 CHEK2 TP53
21
DNA damage_ATM/ATR regulation of G1/S checkpoint 23
10.6 CHEK2 TP53
22
PLK3 signaling events 1
9.32 CHEK2 TP53
Sources

GO Terms for Li-Fraumeni Syndrome 2

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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

Sources for Li-Fraumeni Syndrome 2

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