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LFS2
MCID: LFR007
MIFTS: 47

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 Rare diseases Cancer diseases
Anatomical: Neuronal diseases Endocrine diseases Bone 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 Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and brain, 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 82)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 34.5 CHEK2 TP53
2 adrenocortical carcinoma, hereditary 32.5 CHEK2 TP53
3 sarcoma 30.5 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 myelodysplastic syndrome 29.7 CHEK2 TP53
8 gastric cancer 11.8
9 glioblastoma 11.7
10 soft tissue sarcoma 11.7
11 medulloblastoma 11.4
12 adrenal carcinoma 11.4
13 familial stomach cancer 11.4
14 pilocytic astrocytoma 11.4
15 breast cancer 10.7
16 adenocarcinoma 10.5
17 lung cancer susceptibility 3 10.5
18 rhabdomyosarcoma 10.5
19 colorectal cancer 10.4
20 melanoma 10.4
21 ovarian cancer 10.3
22 prostate cancer 10.3
23 liposarcoma 10.3
24 choroid plexus cancer 10.3
25 accelerated tumor formation 10.3
26 adrenal cortical carcinoma 10.3
27 leukemia 10.3
28 angiosarcoma 10.3
29 lymphoma 10.3
30 leiomyosarcoma 10.3
31 lynch syndrome 10.3
32 adrenal cortical adenocarcinoma 10.3
33 hepatocellular carcinoma 10.1
34 gastric cancer, hereditary diffuse 10.1
35 melanoma, cutaneous malignant 1 10.1
36 autism 10.1
37 lung cancer 10.1
38 lymphoma, hodgkin, classic 10.1
39 prostate cancer, hereditary, 8 10.1
40 prostate cancer, hereditary, 6 10.1
41 myxoid liposarcoma 10.1
42 anaplastic large cell lymphoma 10.1
43 familial adenomatous polyposis 10.1
44 small cell carcinoma 10.1
45 mucosal melanoma 10.1
46 autism spectrum disorder 10.1
47 spitzoid melanoma 10.1
48 telangiectasis 10.1
49 breast fibroadenoma 10.1
50 thyroid cancer 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 Anesthetics Phase 4,Not Applicable
3 Anti-Arrhythmia Agents Phase 4
4 Diuretics, Potassium Sparing Phase 4
5 Sodium Channel Blockers Phase 4
6 Peripheral Nervous System Agents Phase 4
7 Anesthetics, Local Phase 4
8 Central Nervous System Depressants Phase 4
9
Nicotinamide Approved, Investigational Phase 1, Phase 2,Phase 2 98-92-0 936
10
tannic acid Approved Phase 1, Phase 2 1401-55-4
11
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
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 Lipid Regulating Agents Phase 1, Phase 2
15 Antimetabolites Phase 1, Phase 2
16 Vitamins Phase 1, Phase 2
17 Vitamin B Complex Phase 1, Phase 2
18 Trace Elements Phase 1, Phase 2
19 Folate Phase 1, Phase 2
20 Micronutrients Phase 1, Phase 2
21 Vasodilator Agents Phase 1, Phase 2
22 Nicotinic Acids Phase 1, Phase 2
23 Hypolipidemic Agents Phase 1, Phase 2
24 Vitamin B3 Phase 1, Phase 2
25 Nutrients Phase 1, Phase 2
26 Vitamin B9 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 Protective Agents Not Applicable
32 Immunologic Factors 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
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Anatomical Context for Li-Fraumeni Syndrome 2

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

42
Breast, Bone, Brain, Lung, Prostate, Testes, Skin
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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 327)
# Title Authors Year
1
Early-Onset Colorectal Cancer in Li Fraumeni Syndrome Patients: Is It Really Enough to Justify Early Colon Cancer Screening? ( 30981786 )
2019
2
Families' and health care professionals' attitudes towards Li-Fraumeni syndrome testing in children: A systematic review. ( 30191952 )
2019
3
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals. ( 30238178 )
2019
4
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. ( 30243621 )
2019
5
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
6
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome: Erratum. ( 30489338 )
2019
7
Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence. ( 30591002 )
2019
8
Li-Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature. ( 30653764 )
2019
9
Li Fraumeni syndrome. ( 30709544 )
2019
10
Hematologic malignancies and Li-Fraumeni syndrome. ( 30709875 )
2019
11
Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome. ( 30719841 )
2019
12
A rare case of multiple cutaneous melanomas in Li-Fraumeni syndrome: A coincidental association or a component of the syndrome? ( 30809791 )
2019
13
Management of orbital rhabdomyosarcoma in a child with Li-Fraumeni syndrome. ( 30974170 )
2019
14
Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. ( 30974190 )
2019
15
Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma. ( 30196175 )
2018
16
Radiation-associated Angiosarcoma Mimicking Fallopian Tube High-grade Serous Carcinoma in a Woman With De Novo Li-Fraumeni Syndrome. ( 29620582 )
2018
17
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 )
2018
18
Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. ( 28902083 )
2018
19
Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic. ( 28988289 )
2018
20
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. ( 29070607 )
2018
21
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. ( 29076966 )
2018
22
Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study. ( 29077256 )
2018
23
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. ( 29392648 )
2018
24
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome. ( 29416929 )
2018
25
Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic TP53 Mutation. ( 29752319 )
2018
26
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
27
Li-Fraumeni Syndrome-related Malignancies Involving the Genitourinary Tract: Review of a Single-institution Experience. ( 29935265 )
2018
28
What Should a Gynecologist Know about Li-Fraumeni Syndrome? Lessons from a Patient Undergoing Hysterectomy for Benign Indications. ( 29945152 )
2018
29
Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives. ( 29946497 )
2018
30
Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. ( 29955864 )
2018
31
Modeling Osteosarcoma Using Li-Fraumeni Syndrome Patient-derived Induced Pluripotent Stem Cells. ( 29985349 )
2018
32
A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome? ( 30004834 )
2018
33
Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer. ( 30009566 )
2018
34
Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. ( 30076369 )
2018
35
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. ( 30086788 )
2018
36
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. ( 30107858 )
2018
37
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. ( 30216591 )
2018
38
A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome. ( 30239254 )
2018
39
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome. ( 30240537 )
2018
40
Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome. ( 30445420 )
2018
41
Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family. ( 30588330 )
2018
42
Colon Pathology Characteristics in Li-Fraumeni Syndrome. ( 28624650 )
2018
43
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated? ( 28983852 )
2017
44
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient. ( 27523101 )
2017
45
Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study. ( 28772294 )
2017
46
Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial. ( 28772306 )
2017
47
Cancer Screening in Li-Fraumeni Syndrome. ( 28772307 )
2017
48
Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53. ( 28818333 )
2017
49
Successful Treatment of Recurrent Li-Fraumeni Syndrome-related Choroid Plexus Carcinoma. ( 28859040 )
2017
50
Is Li-Fraumeni syndrome really much more common? ( 29091331 )
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 top 50) (show all 88)
# 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.542G> A (p.Arg181His) single nucleotide variant Uncertain significance rs121908701 GRCh37 Chromosome 22, 29121015: 29121015
8 CHEK2 NM_007194.4(CHEK2): c.542G> A (p.Arg181His) single nucleotide variant Uncertain significance rs121908701 GRCh38 Chromosome 22, 28725027: 28725027
9 CHEK2 NM_007194.4(CHEK2): c.715G> A (p.Glu239Lys) single nucleotide variant Uncertain significance rs121908702 GRCh37 Chromosome 22, 29107974: 29107974
10 CHEK2 NM_007194.4(CHEK2): c.715G> A (p.Glu239Lys) single nucleotide variant Uncertain significance rs121908702 GRCh38 Chromosome 22, 28711986: 28711986
11 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh37 Chromosome 22, 29091207: 29091207
12 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh38 Chromosome 22, 28695219: 28695219
13 CHEK2 NM_007194.4(CHEK2): c.1336A> G (p.Asn446Asp) single nucleotide variant Uncertain significance rs121908705 GRCh37 Chromosome 22, 29091154: 29091154
14 CHEK2 NM_007194.4(CHEK2): c.1336A> G (p.Asn446Asp) single nucleotide variant Uncertain significance rs121908705 GRCh38 Chromosome 22, 28695166: 28695166
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.1111C> T (p.His371Tyr) single nucleotide variant Uncertain significance rs531398630 GRCh37 Chromosome 22, 29091846: 29091846
18 CHEK2 NM_007194.4(CHEK2): c.1111C> T (p.His371Tyr) single nucleotide variant Uncertain significance rs531398630 GRCh38 Chromosome 22, 28695858: 28695858
19 CHEK2 NM_007194.4(CHEK2): c.1133C> T (p.Thr378Ile) single nucleotide variant Uncertain significance rs587780167 GRCh37 Chromosome 22, 29091824: 29091824
20 CHEK2 NM_007194.4(CHEK2): c.1133C> T (p.Thr378Ile) single nucleotide variant Uncertain significance rs587780167 GRCh38 Chromosome 22, 28695836: 28695836
21 CHEK2 NM_007194.4(CHEK2): c.1215C> A (p.Asn405Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587780171 GRCh37 Chromosome 22, 29091742: 29091742
22 CHEK2 NM_007194.4(CHEK2): c.1215C> A (p.Asn405Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587780171 GRCh38 Chromosome 22, 28695754: 28695754
23 CHEK2 NM_007194.4(CHEK2): c.1270T> C (p.Tyr424His) single nucleotide variant Conflicting interpretations of pathogenicity rs139366548 GRCh37 Chromosome 22, 29091220: 29091220
24 CHEK2 NM_007194.4(CHEK2): c.1270T> C (p.Tyr424His) single nucleotide variant Conflicting interpretations of pathogenicity rs139366548 GRCh38 Chromosome 22, 28695232: 28695232
25 CHEK2 NM_007194.4(CHEK2): c.1312G> T (p.Asp438Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200050883 GRCh37 Chromosome 22, 29091178: 29091178
26 CHEK2 NM_007194.4(CHEK2): c.1312G> T (p.Asp438Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200050883 GRCh38 Chromosome 22, 28695190: 28695190
27 CHEK2 NM_007194.4(CHEK2): c.1420C> T (p.Arg474Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs540635787 GRCh37 Chromosome 22, 29090061: 29090061
28 CHEK2 NM_007194.4(CHEK2): c.1420C> T (p.Arg474Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs540635787 GRCh38 Chromosome 22, 28694073: 28694073
29 CHEK2 NM_007194.4(CHEK2): c.1525C> T (p.Pro509Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780179 GRCh37 Chromosome 22, 29085140: 29085140
30 CHEK2 NM_007194.4(CHEK2): c.1525C> T (p.Pro509Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780179 GRCh38 Chromosome 22, 28689152: 28689152
31 CHEK2 NM_007194.4(CHEK2): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs587780180 GRCh37 Chromosome 22, 29083961: 29083961
32 CHEK2 NM_007194.4(CHEK2): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs587780180 GRCh38 Chromosome 22, 28687973: 28687973
33 CHEK2 NM_007194.4(CHEK2): c.400G> C (p.Asp134His) single nucleotide variant Uncertain significance rs372874441 GRCh37 Chromosome 22, 29121275: 29121275
34 CHEK2 NM_007194.4(CHEK2): c.400G> C (p.Asp134His) single nucleotide variant Uncertain significance rs372874441 GRCh38 Chromosome 22, 28725287: 28725287
35 CHEK2 NM_007194.4(CHEK2): c.444+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs121908698 GRCh37 Chromosome 22, 29121230: 29121230
36 CHEK2 NM_007194.4(CHEK2): c.444+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs121908698 GRCh38 Chromosome 22, 28725242: 28725242
37 CHEK2 NM_007194.4(CHEK2): c.980A> G (p.Tyr327Cys) single nucleotide variant Uncertain significance rs587780194 GRCh37 Chromosome 22, 29095854: 29095854
38 CHEK2 NM_007194.4(CHEK2): c.980A> G (p.Tyr327Cys) single nucleotide variant Uncertain significance rs587780194 GRCh38 Chromosome 22, 28699866: 28699866
39 CHEK2 NM_007194.4(CHEK2): c.157T> A (p.Ser53Thr) single nucleotide variant Uncertain significance rs371657037 GRCh37 Chromosome 22, 29130553: 29130553
40 CHEK2 NM_007194.4(CHEK2): c.157T> A (p.Ser53Thr) single nucleotide variant Uncertain significance rs371657037 GRCh38 Chromosome 22, 28734565: 28734565
41 CHEK2 NM_007194.4(CHEK2): c.755G> A (p.Ser252Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs587781379 GRCh37 Chromosome 22, 29107934: 29107934
42 CHEK2 NM_007194.4(CHEK2): c.755G> A (p.Ser252Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs587781379 GRCh38 Chromosome 22, 28711946: 28711946
43 CHEK2 NM_007194.4(CHEK2): c.1451C> T (p.Pro484Leu) single nucleotide variant Uncertain significance rs564605612 GRCh37 Chromosome 22, 29090030: 29090030
44 CHEK2 NM_007194.4(CHEK2): c.1451C> T (p.Pro484Leu) single nucleotide variant Uncertain significance rs564605612 GRCh38 Chromosome 22, 28694042: 28694042
45 CHEK2 NM_007194.4(CHEK2): c.1141A> G (p.Met381Val) single nucleotide variant Uncertain significance rs375130261 GRCh37 Chromosome 22, 29091816: 29091816
46 CHEK2 NM_007194.4(CHEK2): c.1141A> G (p.Met381Val) single nucleotide variant Uncertain significance rs375130261 GRCh38 Chromosome 22, 28695828: 28695828
47 CHEK2 NM_007194.4(CHEK2): c.216T> G (p.Tyr72Ter) single nucleotide variant Pathogenic rs587781705 GRCh37 Chromosome 22, 29130494: 29130494
48 CHEK2 NM_007194.4(CHEK2): c.216T> G (p.Tyr72Ter) single nucleotide variant Pathogenic rs587781705 GRCh38 Chromosome 22, 28734506: 28734506
49 CHEK2 NM_007194.4(CHEK2): c.1534C> G (p.Leu512Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17882942 GRCh37 Chromosome 22, 29085131: 29085131
50 CHEK2 NM_007194.4(CHEK2): c.1534C> G (p.Leu512Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17882942 GRCh38 Chromosome 22, 28689143: 28689143

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
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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
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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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