LFS2
MCID: LFR007
MIFTS: 47

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 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:



Summaries for Li-Fraumeni Syndrome 2

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

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:

(showing 82, show less)
# 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
51 peritoneal mesothelioma 10.1
52 breast sarcoma 10.1
53 gliosarcoma 10.1
54 gastric adenocarcinoma 10.1
55 benign ependymoma 10.1
56 cutaneous leiomyosarcoma 10.1
57 pleomorphic carcinoma 10.1
58 atypical lipomatous tumor 10.1
59 pleomorphic liposarcoma 10.1
60 ovarian small cell carcinoma 10.1
61 eyelid carcinoma 10.1
62 cowden syndrome 10.1
63 malignant triton tumor 10.1
64 bilateral breast cancer 10.1
65 myeloid leukemia 10.1
66 skin melanoma 10.1
67 anaplastic ependymoma 10.1
68 diffuse gastric cancer 10.1
69 ependymoma 10.1
70 oral cancer 10.1
71 xp22.3 microdeletion syndrome 10.1
72 malignant peritoneal mesothelioma 10.1
73 nodular lymphocyte predominant hodgkin lymphoma 10.1
74 well-differentiated liposarcoma 10.1
75 nijmegen breakage syndrome 9.8 CHEK2 TP53
76 sporadic breast cancer 9.8 CHEK2 TP53
77 aging 9.8 CHEK2 TP53
78 adenoid cystic carcinoma 9.8 CHEK2 TP53
79 wilms tumor 1 9.7 CHEK2 TP53
80 large intestine cancer 9.7 CHEK2 TP53
81 squamous cell carcinoma 9.6 CHEK2 TP53
82 esophageal cancer 9.5 CHEK2 TP53

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

Human phenotypes related to Li-Fraumeni Syndrome 2:

33 (showing 5, show less)
# 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 (showing 12, show less)
# 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):

(showing 34, show less)
# 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:

(showing 15, show less)
# 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 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

Genetic Tests for Li-Fraumeni Syndrome 2

Genetic tests related to Li-Fraumeni Syndrome 2:

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

Anatomical Context for Li-Fraumeni Syndrome 2

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

42
Breast, Bone, Brain, Lung, Prostate, Testes, Skin

Publications for Li-Fraumeni Syndrome 2

Articles related to Li-Fraumeni Syndrome 2:

(showing 327, show less)
# 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
51
Atypical cutaneous melanocytic tumours arising in two patients with Li-Fraumeni syndrome. ( 29108654 )
2017
52
Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome. ( 29594232 )
2017
53
Li-Fraumeni Syndrome. ( 30333936 )
2017
54
Breast Cancer in a 19-Year-Old Female Adolescent Identified with Li-Fraumeni Syndrome. ( 27589880 )
2017
55
Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. ( 27726232 )
2017
56
Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome. ( 27869650 )
2017
57
Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. ( 27984644 )
2017
58
Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome. ( 28114597 )
2017
59
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO. ( 28137790 )
2017
60
The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome. ( 28154273 )
2017
61
Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome. ( 28160093 )
2017
62
Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix. ( 28177947 )
2017
63
Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy. ( 28218344 )
2017
64
Inherited TP53 Mutations and the Li-Fraumeni Syndrome. ( 28270529 )
2017
65
Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome. ( 28279309 )
2017
66
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome. ( 28301458 )
2017
67
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome. ( 28303452 )
2017
68
Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature. ( 28356770 )
2017
69
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. ( 28572266 )
2017
70
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. ( 28573494 )
2017
71
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes. ( 28592622 )
2017
72
Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. ( 28772286 )
2017
73
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis. ( 28772291 )
2017
74
Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome. ( 26621765 )
2016
75
Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome. ( 26707089 )
2016
76
Genetic and functional analysis of a Li Fraumeni syndrome family in China. ( 26818906 )
2016
77
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome. ( 26823150 )
2016
78
Li-Fraumeni Syndrome and p53 in 2015: Celebrating their Silver Anniversary. ( 26833171 )
2016
79
Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni Syndrome. ( 27297285 )
2016
80
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. ( 27374712 )
2016
81
Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2. ( 27442652 )
2016
82
Hsp90 and PKM2 Drive the Expression of Aromatase in Li-Fraumeni Syndrome Breast Adipose Stromal Cells. ( 27467582 )
2016
83
Does PTEN gene mutation play any role in Li-Fraumeni syndrome. ( 27493922 )
2016
84
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. ( 27496084 )
2016
85
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. ( 27501770 )
2016
86
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing. ( 27516001 )
2016
87
Li-Fraumeni Syndrome. ( 27617148 )
2016
88
Li-Fraumeni syndrome. ( 27622479 )
2016
89
Biochemical and imaging surveillance in Li-Fraumeni syndrome. ( 27819239 )
2016
90
Biochemical and imaging surveillance in Li-Fraumeni syndrome - Authors' reply. ( 27819240 )
2016
91
Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome. ( 29263814 )
2016
92
Breast implant-associated anaplastic large cell lymphoma in a patient with Li-Fraumeni syndrome. ( 25974645 )
2015
93
Angiosarcoma in previously irradiated breast in patient with Li-Fraumeni syndrome. A case report. ( 25271877 )
2015
94
Surgery for Li Fraumeni syndrome: pushing the limits of surgical oncology. ( 23563208 )
2015
95
Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome. ( 25226867 )
2015
96
Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome. ( 25318593 )
2015
97
EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature. ( 25433984 )
2015
98
A functional variant in miR-605 modifies the age of onset in Li-Fraumeni syndrome. ( 25683625 )
2015
99
(18)F-FDG PET-CT for Surveillance of Brazilian Patients with Li-Fraumeni Syndrome. ( 25745605 )
2015
100
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. ( 25762628 )
2015
101
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. ( 25787918 )
2015
102
PEComa in a Young Patient with Known Li-Fraumeni Syndrome. ( 25821471 )
2015
103
Caspase Activation and Aberrant Cell Growth in a p53(+/+) Cell Line from a Li-Fraumeni Syndrome Family. ( 25866679 )
2015
104
Radiation therapy for choroid plexus carcinoma patients with Li-Fraumeni syndrome: advantageous or detrimental? ( 25964589 )
2015
105
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. ( 26014290 )
2015
106
The benefit and burden of cancer screening in Li-Fraumeni syndrome: a case report. ( 26029016 )
2015
107
Primed for cancer: Li Fraumeni Syndrome and the pre-cancerous niche. ( 26082798 )
2015
108
Genotype Versus Phenotype: The Yin and Yang of Germline TP53 Mutations in Li-Fraumeni Syndrome. ( 26101242 )
2015
109
Prostate Cancer and Li-Fraumeni Syndrome: Implications for Screening and Therapy. ( 26793489 )
2015
110
Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome. ( 25549704 )
2014
111
The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome. ( 23884452 )
2014
112
Spitzoid melanoma in a child with Li-Fraumeni syndrome. ( 24251760 )
2014
113
Multiple metachronous osteosarcomas in a patient with Li-Fraumeni syndrome. ( 24274641 )
2014
114
Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome. ( 24299451 )
2014
115
Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. ( 24573247 )
2014
116
Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers. ( 24636404 )
2014
117
Li-Fraumeni syndrome: cancer risk assessment and clinical management. ( 24642672 )
2014
118
Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. ( 24706533 )
2014
119
Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. ( 24835218 )
2014
120
EGFR-mutated lung cancer in Li-Fraumeni syndrome. ( 25047674 )
2014
121
Fourth primary malignant tumor in a patient with possible li-fraumeni syndrome: synchronous diagnosis of postirradiation sarcoma, cutaneous relapse of a previous soft tissue sarcoma, and lung adenocarcinoma. ( 25506014 )
2014
122
Li-Fraumeni syndrome: a case report. ( 25639008 )
2014
123
Breast sarcoma after breast-conserving therapy for breast cancer in a patient with Li-Fraumeni syndrome presenting as focal nonmasslike enhancement on MRI. ( 24261401 )
2013
124
Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome. ( 23015295 )
2013
125
Divergent control of Cav-1 expression in non-cancerous Li-Fraumeni syndrome and human cancer cell lines. ( 23114650 )
2013
126
Ethical issues in presymptomatic genetic testing for minors: a dilemma in Li-Fraumeni syndrome. ( 23233110 )
2013
127
Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions. ( 23355100 )
2013
128
Increased oxidative metabolism in the Li-Fraumeni syndrome. ( 23484829 )
2013
129
Li Fraumeni syndrome, cancer and senescence: a new hypothesis. ( 23587008 )
2013
130
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. ( 23612572 )
2013
131
Paraneoplastic autoimmune multiorgan syndrome in a patient with Li Fraumeni syndrome. ( 23903856 )
2013
132
Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation. ( 23950206 )
2013
133
Chest wall sarcoma: 18F-FDG PET/CT in a patient with Li-Fraumeni syndrome. ( 24107814 )
2013
134
Li-Fraumeni syndrome. ( 24367873 )
2013
135
Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature. ( 22672556 )
2012
136
Chest wall leiomyosarcoma after breast-conservative therapy for early-stage breast cancer in a young woman with Li-Fraumeni syndrome. ( 22878818 )
2012
137
Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010. ( 21990040 )
2012
138
Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. ( 22392042 )
2012
139
A prospective biological study in relation to a family with Li-Fraumeni syndrome. ( 22551548 )
2012
140
Orbital sarcoma in a young patient with Li-Fraumeni syndrome. ( 22652861 )
2012
141
Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey. ( 22653678 )
2012
142
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. ( 22939227 )
2012
143
Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a CD44 variant isoform after chemotherapy. ( 23031740 )
2012
144
Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome. ( 20693561 )
2011
145
Li-Fraumeni syndrome and the role of the pediatric nurse practitioner. ( 21278043 )
2011
146
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. ( 21305319 )
2011
147
Multiple primary cutaneous melanomas in Li-Fraumeni syndrome. ( 21339461 )
2011
148
Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome. ( 21464421 )
2011
149
An introduction to Li-Fraumeni syndrome. ( 21473531 )
2011
150
Gastric cancer in individuals with Li-Fraumeni syndrome. ( 21552135 )
2011
151
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. ( 21601526 )
2011
152
Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case. ( 21626334 )
2011
153
Li-fraumeni syndrome. ( 21779515 )
2011
154
[Li-Fraumeni syndrome]. ( 21345471 )
2011
155
p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome. ( 20028212 )
2010
156
Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. ( 20494261 )
2010
157
Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits. ( 20658357 )
2010
158
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. ( 21059199 )
2010
159
A molecular signature of normal breast epithelial and stromal cells from Li-Fraumeni syndrome mutation carriers. ( 21311097 )
2010
160
A new therapeutic basis for treating Li-Fraumeni Syndrome breast tumors expressing mutated TP53. ( 21317445 )
2010
161
Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome. ( 21488255 )
2010
162
Childhood predictive genetic testing for Li-Fraumeni syndrome. ( 19404774 )
2010
163
Familial gastric cancer and Li-Fraumeni syndrome. ( 19674071 )
2010
164
The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube. ( 19834951 )
2010
165
Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome. ( 19952748 )
2010
166
Single-cell analysis of p16(INK4a) and p21(WAF1) expression suggests distinct mechanisms of senescence in normal human and Li-Fraumeni Syndrome fibroblasts. ( 20039273 )
2010
167
Genetic modeling of Li-Fraumeni syndrome in zebrafish. ( 20075382 )
2010
168
Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. ( 20198344 )
2010
169
Li-Fraumeni syndrome in a Turkish family. ( 20426520 )
2010
170
Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences. ( 20479422 )
2010
171
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. ( 20522432 )
2010
172
Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome. ( 20586629 )
2010
173
[Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. ( 20478780 )
2010
174
Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family. ( 18937320 )
2009
175
Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome. ( 19012332 )
2009
176
Li-Fraumeni syndrome: the genetics and treatment considerations for the sarcoma and associated neoplasms. ( 19056046 )
2009
177
Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome. ( 19101993 )
2009
178
Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. ( 19204208 )
2009
179
A molecular approach for identifying individuals with Li-Fraumeni syndrome who have a limited family history. ( 19250386 )
2009
180
Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing. ( 19269943 )
2009
181
Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. ( 19340432 )
2009
182
Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome. ( 19378321 )
2009
183
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. ( 19542078 )
2009
184
High frequency of de novo mutations in Li-Fraumeni syndrome. ( 19556618 )
2009
185
The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations. ( 19602465 )
2009
186
2009 version of the Chompret criteria for Li Fraumeni syndrome. ( 19652052 )
2009
187
p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma. ( 19714490 )
2009
188
Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome. ( 20017945 )
2009
189
Is CHEK2 a cause of the Li-Fraumeni syndrome? ( 18178638 )
2008
190
A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene. ( 18307025 )
2008
191
F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. ( 18349092 )
2008
192
Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome. ( 18381406 )
2008
193
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. ( 18511570 )
2008
194
Li-Fraumeni syndrome: a case with 4 separate primary sarcomas and 5 sequential free flaps in the maxillofacial region. ( 18634962 )
2008
195
Psychological functioning in persons considering genetic counseling and testing for Li-Fraumeni syndrome. ( 18688785 )
2008
196
Li-Fraumeni syndrome in a Malaysian kindred. ( 18786442 )
2008
197
Potential of Advexin: a p53 gene-replacement therapy in Li-Fraumeni syndrome. ( 19086841 )
2008
198
Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation. ( 16333835 )
2007
199
Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma. ( 16534790 )
2007
200
The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes. ( 17003841 )
2007
201
Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. ( 17308077 )
2007
202
Two TP53 germline mutations in a classical Li-Fraumeni syndrome family. ( 17318340 )
2007
203
Orbital rhabdomyosarcoma in Li-Fraumeni syndrome. ( 17420382 )
2007
204
p53 therapy in a patient with Li-Fraumeni syndrome. ( 17483435 )
2007
205
EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome. ( 17540308 )
2007
206
Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. ( 16258005 )
2006
207
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. ( 16401470 )
2006
208
Acute myelogenous leukemia in a patient with Li-Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report. ( 16437140 )
2006
209
Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype. ( 16597646 )
2006
210
Genotype phenotype correlation in Li-Fraumeni syndrome kindreds and its implications for management. ( 16736281 )
2006
211
Balanced t(11;15)(q23;q15) in a TP53+/+ breast cancer patient from a Li-Fraumeni syndrome family. ( 16772121 )
2006
212
Joint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome. ( 16912210 )
2006
213
The first case of Li-Fraumeni syndrome in Bosnia and Herzegovina: case report. ( 16929790 )
2006
214
CHEK2 I157T associates with familial and sporadic colorectal cancer. ( 16816021 )
2006
215
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. ( 17085682 )
2006
216
Successful treatment of an unresectable choroid plexus carcinoma in a patient with Li-Fraumeni syndrome. ( 15654279 )
2005
217
Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. ( 15695383 )
2005
218
Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome. ( 15719270 )
2005
219
Prenatal diagnosis history of a Li-Fraumeni syndrome family. ( 15721647 )
2005
220
A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family. ( 15784129 )
2005
221
Li-Fraumeni syndrome: a p53 family affair. ( 15917654 )
2005
222
Familial gastric cancers with Li-Fraumeni Syndrome: a case repast. ( 15996045 )
2005
223
Li-Fraumeni syndrome: a case report and discussion. ( 16164004 )
2005
224
Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome. ( 16284780 )
2005
225
Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. ( 16257342 )
2005
226
A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. ( 15368100 )
2004
227
Germ line BAX alterations are infrequent in Li-Fraumeni syndrome. ( 15298965 )
2004
228
Prenatal diagnosis in Li-Fraumeni syndrome. ( 15342977 )
2004
229
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. ( 15607980 )
2004
230
Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. ( 15607981 )
2004
231
Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. ( 15466005 )
2004
232
CHEK2 is a multiorgan cancer susceptibility gene. ( 15492928 )
2004
233
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. ( 15122511 )
2004
234
CHEK2 variant I157T may be associated with increased breast cancer risk. ( 15239132 )
2004
235
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. ( 12584563 )
2003
236
General keynote: hereditary cancer: lessons from Li-Fraumeni syndrome. ( 12586075 )
2003
237
Germline TP53 mutations and Li-Fraumeni syndrome. ( 12619118 )
2003
238
Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol. ( 12695689 )
2003
239
TP53, hChk2, and the Li-Fraumeni syndrome. ( 12710683 )
2003
240
Immortal, telomerase-negative cell lines derived from a Li-Fraumeni syndrome patient exhibit telomere length variability and chromosomal and minisatellite instabilities. ( 12771041 )
2003
241
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. ( 12885464 )
2003
242
Novel p53 germline mutation in a patient with Li-Fraumeni syndrome. ( 14656244 )
2003
243
Mutations in CHEK2 associated with prostate cancer risk. ( 12533788 )
2003
244
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. ( 12690581 )
2003
245
Individual-specific liability groups in genetic linkage, with applications to kindreds with Li-Fraumeni syndrome. ( 11822026 )
2002
246
The Li-Fraumeni syndrome. ( 11900879 )
2002
247
A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla. ( 12076704 )
2002
248
RNA polymerase III transcription can be derepressed by oncogenes or mutations that compromise p53 function in tumours and Li-Fraumeni syndrome. ( 12082526 )
2002
249
Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome? ( 12181637 )
2002
250
p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies. ( 12200603 )
2002
251
Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome. ( 12442270 )
2002
252
Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. ( 12471212 )
2002
253
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. ( 11967536 )
2002
254
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. ( 12094328 )
2002
255
[Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers]. ( 12406399 )
2002
256
Mechanism of functional inactivation of a Li-Fraumeni syndrome p53 that has a mutation outside of the DNA-binding domain. ( 11245491 )
2001
257
Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. ( 11474498 )
2001
258
p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. ( 11479205 )
2001
259
Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome. ( 11494139 )
2001
260
Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome. ( 11520573 )
2001
261
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. ( 11719428 )
2001
262
Celebrating preimplantation genetic diagnosis of p53 mutations in Li-Fraumeni syndrome. ( 12513881 )
2001
263
Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations. ( 14564044 )
2001
264
Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome. ( 14965603 )
2001
265
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. ( 10922393 )
2000
266
Genomic alterations associated with loss of heterozygosity for TP53 in Li-Fraumeni syndrome fibroblasts. ( 10945493 )
2000
267
Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. ( 10980596 )
2000
268
Chromosome instability in fibroblasts derived from Li-Fraumeni syndrome families without TP53 mutations. ( 11027425 )
2000
269
Development of spontaneous mammary tumors in BALB/c p53 heterozygous mice. A model for Li-Fraumeni syndrome. ( 11106587 )
2000
270
Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. ( 11120338 )
2000
271
p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome. ( 10435620 )
1999
272
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. ( 10484981 )
1999
273
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. ( 10617473 )
1999
274
Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer. ( 10645809 )
1999
275
Analysis of Li-Fraumeni syndrome and Li-Fraumeni-like families for germline mutations in Bcl10. ( 10660104 )
1999
276
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. ( 10389970 )
1999
277
Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2. ( 10432928 )
1999
278
Li-Fraumeni syndrome and the role of the p53 tumor suppressor gene in cancer susceptibility. ( 9504235 )
1998
279
Multiple primary cancers in families with Li-Fraumeni syndrome. ( 9554443 )
1998
280
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. ( 9569035 )
1998
281
Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family. ( 9703430 )
1998
282
Aberrant p21WAF1-dependent growth arrest as the possible mechanism of abnormal resistance to ultraviolet light cytotoxicity in Li-Fraumeni syndrome fibroblast strains heterozygous for TP53 mutations. ( 9704919 )
1998
283
Telomerase activity during spontaneous immortalization of Li-Fraumeni syndrome skin fibroblasts. ( 9715272 )
1998
284
Multiple synchronous lung cancers and atypical adenomatous hyperplasia in Li-Fraumeni syndrome. ( 9726049 )
1998
285
Li-Fraumeni syndrome and osteosarcoma of the maxilla. ( 9734777 )
1998
286
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. ( 9764816 )
1998
287
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. ( 9792154 )
1998
288
Li-Fraumeni syndrome - What does it mean for the general practitioner and general paediatrician? ( 20401224 )
1998
289
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. ( 9343108 )
1997
290
Cell cycle arrest defect in Li-Fraumeni Syndrome: a mechanism of cancer predisposition? ( 9018113 )
1997
291
Third international workshop on collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome. ( 9149899 )
1997
292
Li-Fraumeni syndrome--a molecular and clinical review. ( 9218725 )
1997
293
Li-Fraumeni syndrome in pediatric patients with soft tissue sarcoma or osteosarcoma. ( 9291635 )
1997
294
The Li-Fraumeni syndrome: an inherited susceptibility to cancer. ( 9302689 )
1997
295
[Li-Fraumeni syndrome]. ( 9339200 )
1997
296
Faulty DNA polymerase delta/epsilon-mediated excision repair in response to gamma radiation or ultraviolet light in p53-deficient fibroblast strains from affected members of a cancer-prone family with Li-Fraumeni syndrome. ( 8625479 )
1996
297
A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome. ( 8649785 )
1996
298
A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome. ( 8869100 )
1996
299
Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance. ( 7568035 )
1995
300
Expression of platelet derived growth factor and platelet derived growth factor receptor mRNA in a glioblastoma from a patient with Li-Fraumeni syndrome. ( 7608673 )
1995
301
Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts. ( 7651392 )
1995
302
Abnormal pattern of post-gamma-ray DNA replication in radioresistant fibroblast strains from affected members of a cancer-prone family with Li-Fraumeni syndrome. ( 7779715 )
1995
303
Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome. ( 7799951 )
1995
304
Aflatoxin B1-induced immortalization of cultured skin fibroblasts from a patient with Li-Fraumeni syndrome. ( 7834802 )
1995
305
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. ( 7887414 )
1995
306
The first documentation of Li-Fraumeni syndrome in Korea. ( 8527048 )
1995
307
Li-Fraumeni syndrome. ( 7734204 )
1994
308
p53 and the Li-Fraumeni syndrome. ( 7819275 )
1994
309
Li-Fraumeni syndrome. ( 7863100 )
1994
310
Collaborative interdisciplinary studies of p53 and other predisposing genes in Li-Fraumeni syndrome. ( 7881346 )
1994
311
A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family. ( 7936651 )
1994
312
Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family. ( 8084585 )
1994
313
In vitro transformation of Li-Fraumeni syndrome fibroblasts by SV40 large T antigen mutants. ( 8108114 )
1994
314
[Li-Fraumeni syndrome and germ-line mutations of the p53 gene]. ( 8087224 )
1994
315
Cytogenetic response to G2-phase X irradiation in relation to DNA repair and radiosensitivity in a cancer-prone family with Li-Fraumeni syndrome. ( 8248481 )
1993
316
Several mutant p53 proteins detected in cancer-prone families with Li-Fraumeni syndrome exhibit transdominant effects on the biochemical properties of the wild-type p53. ( 8361758 )
1993
317
Primary carcinoma of the choroid plexus in Li-Fraumeni syndrome: case report. ( 8421542 )
1993
318
A functionally inactive p53 Li-Fraumeni syndrome mutant. ( 8426739 )
1993
319
Correction: a Li-Fraumeni syndrome p53 mutation. ( 8438145 )
1993
320
p53 and the Li-Fraumeni syndrome. ( 8500106 )
1993
321
Detection of both mutant and wild-type p53 protein in normal skin fibroblasts and demonstration of a shared 'second hit' on p53 in diverse tumors from a cancer-prone family with Li-Fraumeni syndrome. ( 1373881 )
1992
322
Infantile cutaneous rhabdomyosarcoma (Li-Fraumeni syndrome): cytological presentation of fine-needle aspirate biopsy, report of a case. ( 1468341 )
1992
323
The Li-Fraumeni syndrome: from clinical epidemiology to molecular genetics. ( 1536134 )
1992
324
p53 germline mutations in Li-Fraumeni syndrome. ( 1683921 )
1991
325
Follow-up study of twenty-four families with Li-Fraumeni syndrome. ( 1933872 )
1991
326
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. ( 2259385 )
1990
327
Li-Fraumeni syndrome: a case report from Italy. ( 2310687 )
1990

Variations for Li-Fraumeni Syndrome 2

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

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 CHEK2 p.Arg145Trp VAR_008554 rs137853007

ClinVar genetic disease variations for Li-Fraumeni Syndrome 2:

6 (showing 88, show less)
# 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
51 CHEK2 NM_007194.4(CHEK2): c.556A> C (p.Asn186His) single nucleotide variant Conflicting interpretations of pathogenicity rs146198085 GRCh37 Chromosome 22, 29121001: 29121001
52 CHEK2 NM_007194.4(CHEK2): c.556A> C (p.Asn186His) single nucleotide variant Conflicting interpretations of pathogenicity rs146198085 GRCh38 Chromosome 22, 28725013: 28725013
53 CHEK2 NM_007194.4(CHEK2): c.176C> A (p.Thr59Lys) single nucleotide variant Uncertain significance rs149991239 GRCh37 Chromosome 22, 29130534: 29130534
54 CHEK2 NM_007194.4(CHEK2): c.176C> A (p.Thr59Lys) single nucleotide variant Uncertain significance rs149991239 GRCh38 Chromosome 22, 28734546: 28734546
55 CHEK2 NM_007194.4(CHEK2): c.1036C> T (p.Arg346Cys) single nucleotide variant Uncertain significance rs201206424 GRCh37 Chromosome 22, 29092948: 29092948
56 CHEK2 NM_007194.4(CHEK2): c.1036C> T (p.Arg346Cys) single nucleotide variant Uncertain significance rs201206424 GRCh38 Chromosome 22, 28696960: 28696960
57 CHEK2 NM_007194.4(CHEK2): c.319+2T> A single nucleotide variant Likely pathogenic rs587782401 GRCh37 Chromosome 22, 29130389: 29130389
58 CHEK2 NM_007194.4(CHEK2): c.319+2T> A single nucleotide variant Likely pathogenic rs587782401 GRCh38 Chromosome 22, 28734401: 28734401
59 CHEK2 NM_007194.4(CHEK2): c.1510G> C (p.Glu504Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587782489 GRCh37 Chromosome 22, 29085155: 29085155
60 CHEK2 NM_007194.4(CHEK2): c.1510G> C (p.Glu504Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587782489 GRCh38 Chromosome 22, 28689167: 28689167
61 CHEK2 NM_007194.4(CHEK2): c.1216C> T (p.Arg406Cys) single nucleotide variant Uncertain significance rs587782527 GRCh37 Chromosome 22, 29091741: 29091741
62 CHEK2 NM_007194.4(CHEK2): c.1216C> T (p.Arg406Cys) single nucleotide variant Uncertain significance rs587782527 GRCh38 Chromosome 22, 28695753: 28695753
63 CHEK2 NM_007194.4(CHEK2): c.1178C> T (p.Pro393Leu) single nucleotide variant Uncertain significance rs730881690 GRCh38 Chromosome 22, 28695791: 28695791
64 CHEK2 NM_007194.4(CHEK2): c.1178C> T (p.Pro393Leu) single nucleotide variant Uncertain significance rs730881690 GRCh37 Chromosome 22, 29091779: 29091779
65 CHEK2 NM_007194.4(CHEK2): c.1024G> A (p.Gly342Ser) single nucleotide variant Uncertain significance rs730881705 GRCh38 Chromosome 22, 28696972: 28696972
66 CHEK2 NM_007194.4(CHEK2): c.1024G> A (p.Gly342Ser) single nucleotide variant Uncertain significance rs730881705 GRCh37 Chromosome 22, 29092960: 29092960
67 CHEK2 NM_007194.4(CHEK2): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs730881701 GRCh38 Chromosome 22, 28725278: 28725278
68 CHEK2 NM_007194.4(CHEK2): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs730881701 GRCh37 Chromosome 22, 29121266: 29121266
69 CHEK2 NM_007194.4(CHEK2): c.170C> T (p.Ser57Phe) single nucleotide variant Uncertain significance rs730881695 GRCh38 Chromosome 22, 28734552: 28734552
70 CHEK2 NM_007194.4(CHEK2): c.170C> T (p.Ser57Phe) single nucleotide variant Uncertain significance rs730881695 GRCh37 Chromosome 22, 29130540: 29130540
71 CHEK2 NM_007194.4(CHEK2): c.742A> G (p.Ile248Val) single nucleotide variant Uncertain significance rs779457035 GRCh37 Chromosome 22, 29107947: 29107947
72 CHEK2 NM_007194.4(CHEK2): c.742A> G (p.Ile248Val) single nucleotide variant Uncertain significance rs779457035 GRCh38 Chromosome 22, 28711959: 28711959
73 CHEK2 NM_007194.4(CHEK2): c.1375+3A> G single nucleotide variant Uncertain significance rs876659868 GRCh37 Chromosome 22, 29091112: 29091112
74 CHEK2 NM_007194.4(CHEK2): c.1375+3A> G single nucleotide variant Uncertain significance rs876659868 GRCh38 Chromosome 22, 28695124: 28695124
75 CHEK2 NM_007194.4(CHEK2): c.1078G> A (p.Glu360Lys) single nucleotide variant Uncertain significance rs876658337 GRCh37 Chromosome 22, 29092906: 29092906
76 CHEK2 NM_007194.4(CHEK2): c.1078G> A (p.Glu360Lys) single nucleotide variant Uncertain significance rs876658337 GRCh38 Chromosome 22, 28696918: 28696918
77 CHEK2 NM_007194.4(CHEK2): c.937G> A (p.Val313Met) single nucleotide variant Uncertain significance rs752302543 GRCh38 Chromosome 22, 28699909: 28699909
78 CHEK2 NM_007194.4(CHEK2): c.937G> A (p.Val313Met) single nucleotide variant Uncertain significance rs752302543 GRCh37 Chromosome 22, 29095897: 29095897
79 CHEK2 NM_007194.4(CHEK2): c.1376-13A> G single nucleotide variant Uncertain significance rs1064793330 GRCh38 Chromosome 22, 28694130: 28694130
80 CHEK2 NM_007194.4(CHEK2): c.1376-13A> G single nucleotide variant Uncertain significance rs1064793330 GRCh37 Chromosome 22, 29090118: 29090118
81 CHEK2 NM_007194.4(CHEK2): c.967A> C (p.Thr323Pro) single nucleotide variant Uncertain significance rs750984976 GRCh37 Chromosome 22, 29095867: 29095867
82 CHEK2 NM_007194.4(CHEK2): c.967A> C (p.Thr323Pro) single nucleotide variant Uncertain significance rs750984976 GRCh38 Chromosome 22, 28699879: 28699879
83 CHEK2 NM_007194.4(CHEK2): c.444+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs560596101 GRCh37 Chromosome 22, 29121229: 29121229
84 CHEK2 NM_007194.4(CHEK2): c.444+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs560596101 GRCh38 Chromosome 22, 28725241: 28725241
85 CHEK2 NM_007194.4(CHEK2): c.417C> A (p.Tyr139Ter) single nucleotide variant Pathogenic rs200917541 GRCh38 Chromosome 22, 28725270: 28725270
86 CHEK2 NM_007194.4(CHEK2): c.417C> A (p.Tyr139Ter) single nucleotide variant Pathogenic rs200917541 GRCh37 Chromosome 22, 29121258: 29121258
87 CHEK2 NM_007194.4(CHEK2): c.436A> C (p.Ile146Leu) single nucleotide variant Uncertain significance rs781678896 GRCh38 Chromosome 22, 28725251: 28725251
88 CHEK2 NM_007194.4(CHEK2): c.436A> C (p.Ile146Leu) single nucleotide variant Uncertain significance rs781678896 GRCh37 Chromosome 22, 29121239: 29121239

Cosmic variations for Li-Fraumeni Syndrome 2:

9 (showing 4, show less)
# 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

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:

(showing 22, show less)
# 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
Show member pathways
11.94 CHEK2 TP53
6 11.92 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:

(showing 1, show less)
# 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:

(showing 9, show less)
# 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:

(showing 2, show less)
# 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 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
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45 MeSH
46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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