LFS1
MCID: LFR009
MIFTS: 35

Li-Fraumeni Syndrome 1 (LFS1)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Li-Fraumeni Syndrome 1

MalaCards integrated aliases for Li-Fraumeni Syndrome 1:

Name: Li-Fraumeni Syndrome 1 11 28 5 14
Lfs1 11

Classifications:



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Disease Ontology 11 DOID:0111503

Summaries for Li-Fraumeni Syndrome 1

Disease Ontology: 11 A Li-Fraumeni syndrome that has material basis in heterozygous mutation in TP53 on chromosome 17p13.1.

MalaCards based summary: Li-Fraumeni Syndrome 1, also known as lfs1, is related to li-fraumeni syndrome and familial ovarian cancer. An important gene associated with Li-Fraumeni Syndrome 1 is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Direct p53 effectors and Proteolysis Putative SUMO-1 pathway. Affiliated tissues include breast, prostate and lung, and related phenotype is Increased viability.

Related Diseases for Li-Fraumeni Syndrome 1

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome 1:



Diseases related to Li-Fraumeni Syndrome 1

Symptoms & Phenotypes for Li-Fraumeni Syndrome 1

GenomeRNAi Phenotypes related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 8.32 NXPH4

Drugs & Therapeutics for Li-Fraumeni Syndrome 1

Search Clinical Trials, NIH Clinical Center for Li-Fraumeni Syndrome 1

Genetic Tests for Li-Fraumeni Syndrome 1

Genetic tests related to Li-Fraumeni Syndrome 1:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 1 28 TP53

Anatomical Context for Li-Fraumeni Syndrome 1

Organs/tissues related to Li-Fraumeni Syndrome 1:

MalaCards : Breast, Prostate, Lung, Thyroid

Publications for Li-Fraumeni Syndrome 1

Articles related to Li-Fraumeni Syndrome 1:

(show top 50) (show all 136)
# Title Authors PMID Year
1
Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy. 5
35886069 2022
2
A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor. 5
34452612 2021
3
Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome. 5
34539758 2021
4
Mutational processes shape the landscape of TP53 mutations in human cancer. 5
30224644 2018
5
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. 5
30107858 2018
6
Adrenocortical tumors associated with the TP53 p.R337H germline mutation can be identified during child-care consultations. 5
28864397 2018
7
p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers. 5
28756477 2018
8
Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma. 5
28984303 2018
9
Men seeking counselling in a Breast Cancer Risk Evaluation Clinic. 5
29456621 2018
10
Gestational choriocarcinoma associated with a germline TP53 mutation. 5
28477316 2018
11
Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients. 5
28968711 2017
12
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 5
28873162 2017
13
Contribution of the TP53 R337H mutation to the cancer burden in southern Brazil: Insights from the study of 55 families of children with adrenocortical tumors. 5
28387921 2017
14
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 5
28369373 2017
15
The Inherited p53 Mutation in the Brazilian Population. 5
27663983 2016
16
Tetramer formation of tumor suppressor protein p53: Structure, function, and applications. 5
26572807 2016
17
Improving performance of multigene panels for genomic analysis of cancer predisposition. 5
26845104 2016
18
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 5
27501770 2016
19
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. 5
27374712 2016
20
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. 5
26911350 2016
21
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 5
26786923 2016
22
Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. 5
27223487 2016
23
Gain of function of mutant p53: R282W on the peak? 5
26878390 2016
24
R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature. 5
26681051 2015
25
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 5
25503501 2015
26
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. 5
25787918 2015
27
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 5
26014290 2015
28
Germline TP53 mutational spectrum in French Canadians with breast cancer. 5
25925845 2015
29
Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients. 5
25619955 2015
30
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 5
25584008 2015
31
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 5
25186627 2015
32
Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. 5
26484312 2015
33
Occurrence of Neuroblastoma among TP53 p.R337H Carriers. 5
26452166 2015
34
EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature. 5
25433984 2015
35
Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy. 5
24677579 2014
36
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 5
24556621 2014
37
Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. 5
24573247 2014
38
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. 5
24122735 2013
39
A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion. 5
23792586 2013
40
Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis. 5
23538418 2013
41
The p53 isoform, Δ133p53α, stimulates angiogenesis and tumour progression. 5
22733133 2013
42
The genetic landscape of high-risk neuroblastoma. 5
23334666 2013
43
Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 5
23175693 2013
44
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 5
22811390 2013
45
The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis. 5
23161690 2013
46
Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations. 5
22233476 2012
47
Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature. 5
22672556 2012
48
Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 5
21761402 2012
49
Gastric cancer in individuals with Li-Fraumeni syndrome. 5
21552135 2011
50
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 5
21601526 2011

Variations for Li-Fraumeni Syndrome 1

ClinVar genetic disease variations for Li-Fraumeni Syndrome 1:

5 (show top 50) (show all 807)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP53 NM_000546.6(TP53):c.154C>T (p.Gln52Ter) SNV Pathogenic
1455400 GRCh37: 17:7579533-7579533
GRCh38: 17:7676215-7676215
2 TP53 NM_000546.6(TP53):c.331_365dup (p.Thr123fs) DUP Pathogenic
817074 rs1597373467 GRCh37: 17:7579321-7579322
GRCh38: 17:7676003-7676004
3 TP53 NM_000546.6(TP53):c.271dup (p.Trp91fs) DUP Pathogenic
801291 rs1597374152 GRCh37: 17:7579415-7579416
GRCh38: 17:7676097-7676098
4 TP53 NM_000546.6(TP53):c.383del (p.Pro128fs) DEL Pathogenic
659670 rs1597371666 GRCh37: 17:7578547-7578547
GRCh38: 17:7675229-7675229
5 TP53 NM_000546.6(TP53):c.254del (p.Pro85fs) DEL Pathogenic
418516 rs1064793279 GRCh37: 17:7579433-7579433
GRCh38: 17:7676115-7676115
6 TP53 NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) SNV Pathogenic
376663 rs28934573 GRCh37: 17:7577559-7577559
GRCh38: 17:7674241-7674241
7 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic
Pathogenic/Likely Pathogenic
12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
8 TP53 NM_000546.6(TP53):c.842A>G (p.Asp281Gly) SNV Pathogenic
141141 rs587781525 GRCh37: 17:7577096-7577096
GRCh38: 17:7673778-7673778
9 TP53 NM_000546.6(TP53):c.994-1G>A SNV Pathogenic
142161 rs587782272 GRCh37: 17:7574034-7574034
GRCh38: 17:7670716-7670716
10 TP53 NM_000546.6(TP53):c.920-1G>A SNV Pathogenic
141377 rs587781702 GRCh37: 17:7576927-7576927
GRCh38: 17:7673609-7673609
11 TP53 NM_000546.6(TP53):c.375G>A (p.Thr125=) SNV Pathogenic
177825 rs55863639 GRCh37: 17:7579312-7579312
GRCh38: 17:7675994-7675994
12 TP53 NM_000546.6(TP53):c.493C>T (p.Gln165Ter) SNV Pathogenic
182930 rs730882001 GRCh37: 17:7578437-7578437
GRCh38: 17:7675119-7675119
13 TP53 NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) SNV Pathogenic
438708 rs17882252 GRCh37: 17:7574012-7574012
GRCh38: 17:7670694-7670694
14 TP53 NM_000546.6(TP53):c.651_666del (p.Val218fs) DEL Pathogenic
185612 rs786202315 GRCh37: 17:7578183-7578198
GRCh38: 17:7674865-7674880
15 TP53 NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) SNV Pathogenic
186451 rs786202962 GRCh37: 17:7578403-7578403
GRCh38: 17:7675085-7675085
16 TP53 NM_000546.6(TP53):c.637C>T (p.Arg213Ter) SNV Pathogenic
43590 rs397516436 GRCh37: 17:7578212-7578212
GRCh38: 17:7674894-7674894
17 TP53 NM_000546.6(TP53):c.638G>A (p.Arg213Gln) SNV Pathogenic
135359 rs587778720 GRCh37: 17:7578211-7578211
GRCh38: 17:7674893-7674893
18 TP53 NM_000546.6(TP53):c.875A>T (p.Lys292Ile) SNV Pathogenic
12378 rs121912663 GRCh37: 17:7577063-7577063
GRCh38: 17:7673745-7673745
19 TP53 NM_000546.6(TP53):c.532del (p.His178fs) DEL Pathogenic
12377 rs786202525 GRCh37: 17:7578398-7578398
GRCh38: 17:7675080-7675080
20 TP53 NM_000546.6(TP53):c.412G>C (p.Ala138Pro) SNV Pathogenic
12376 rs28934875 GRCh37: 17:7578518-7578518
GRCh38: 17:7675200-7675200
21 TP53 NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) SNV Pathogenic
12375 rs121912662 GRCh37: 17:7573996-7573996
GRCh38: 17:7670678-7670678
22 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic
Pathogenic
12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
23 TP53 NM_000546.6(TP53):c.455dup (p.Pro153fs) DUP Pathogenic
182958 rs730882019 GRCh37: 17:7578474-7578475
GRCh38: 17:7675156-7675157
24 TP53 NM_000546.6(TP53):c.814G>T (p.Val272Leu) SNV Pathogenic
12358 rs121912657 GRCh37: 17:7577124-7577124
GRCh38: 17:7673806-7673806
25 TP53 NM_000546.6(TP53):c.398T>C (p.Met133Thr) SNV Pathogenic
12357 rs28934873 GRCh37: 17:7578532-7578532
GRCh38: 17:7675214-7675214
26 TP53 NM_000546.6(TP53):c.733G>A (p.Gly245Ser) SNV Pathogenic
12365 rs28934575 GRCh37: 17:7577548-7577548
GRCh38: 17:7674230-7674230
27 TP53 NM_000546.6(TP53):c.733G>T (p.Gly245Cys) SNV Pathogenic
12349 rs28934575 GRCh37: 17:7577548-7577548
GRCh38: 17:7674230-7674230
28 TP53 NM_000546.6(TP53):c.742C>T (p.Arg248Trp) SNV Pathogenic
12347 rs121912651 GRCh37: 17:7577539-7577539
GRCh38: 17:7674221-7674221
29 TP53 NM_000546.6(TP53):c.560-2A>C SNV Pathogenic
1189743 GRCh37: 17:7578291-7578291
GRCh38: 17:7674973-7674973
30 TP53 NM_000546.6(TP53):c.455C>T (p.Pro152Leu) SNV Pathogenic
142766 rs587782705 GRCh37: 17:7578475-7578475
GRCh38: 17:7675157-7675157
31 TP53 NM_000546.6(TP53):c.257_279del (p.Ala86fs) DEL Pathogenic
280704 rs886041861 GRCh37: 17:7579408-7579430
GRCh38: 17:7676090-7676112
32 TP53 NM_000546.6(TP53):c.662del (p.Glu221fs) DEL Pathogenic
237951 rs878854071 GRCh37: 17:7578187-7578187
GRCh38: 17:7674869-7674869
33 TP53 NM_000546.6(TP53):c.202G>T (p.Glu68Ter) SNV Pathogenic
224551 rs869312782 GRCh37: 17:7579485-7579485
GRCh38: 17:7676167-7676167
34 TP53 NM_000546.6(TP53):c.672+1G>A SNV Pathogenic
216078 rs863224499 GRCh37: 17:7578176-7578176
GRCh38: 17:7674858-7674858
35 TP53 NM_000546.6(TP53):c.328del (p.Arg110fs) DEL Pathogenic
127807 rs587780066 GRCh37: 17:7579359-7579359
GRCh38: 17:7676041-7676041
36 TP53 NM_000546.6(TP53):c.645del (p.Ser215fs) DEL Pathogenic
1454254 GRCh37: 17:7578204-7578204
GRCh38: 17:7674886-7674886
37 TP53 NM_000546.6(TP53):c.983dup (p.Thr329fs) DUP Pathogenic
279962 rs886041285 GRCh37: 17:7576862-7576863
GRCh38: 17:7673544-7673545
38 TP53 NM_000546.6(TP53):c.825T>A (p.Cys275Ter) SNV Pathogenic
1012210 rs1555525279 GRCh37: 17:7577113-7577113
GRCh38: 17:7673795-7673795
39 TP53 NM_000546.6(TP53):c.72dup (p.Leu25fs) DUP Pathogenic
1341341 GRCh37: 17:7579840-7579841
GRCh38: 17:7676522-7676523
40 TP53 NM_000546.6(TP53):c.919+1G>A SNV Pathogenic
633606 rs1131691039 GRCh37: 17:7577018-7577018
GRCh38: 17:7673700-7673700
41 TP53 NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) SNV Pathogenic
12383 rs121912666 GRCh37: 17:7578190-7578190
GRCh38: 17:7674872-7674872
42 TP53 TP53, 11-BP DEL/5-BP INS INDEL Pathogenic
12381 GRCh37:
GRCh38:
43 TP53 TP53, 1-BP DEL, CODON 257 DEL Pathogenic
12373 GRCh37:
GRCh38:
44 TP53 NM_000546.6(TP53):c.628_629del (p.Asn210fs) DEL Pathogenic
12361 rs587776768 GRCh37: 17:7578220-7578221
GRCh38: 17:7674902-7674903
45 TP53 NM_000546.6(TP53):c.755T>C (p.Leu252Pro) SNV Pathogenic
12350 rs121912653 GRCh37: 17:7577526-7577526
GRCh38: 17:7674208-7674208
46 TP53 NM_000546.6(TP53):c.736A>G (p.Met246Val) SNV Pathogenic
100815 rs483352695 GRCh37: 17:7577545-7577545
GRCh38: 17:7674227-7674227
47 TP53 NM_000546.6(TP53):c.365_366del (p.Val122fs) MICROSAT Pathogenic
127809 rs587780067 GRCh37: 17:7579321-7579322
GRCh38: 17:7676003-7676004
48 TP53 NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) SNV Pathogenic
140801 rs587781288 GRCh37: 17:7578508-7578508
GRCh38: 17:7675190-7675190
49 TP53 NM_000546.6(TP53):c.844C>G (p.Arg282Gly) SNV Pathogenic
140821 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776
50 TP53 NM_000546.6(TP53):c.294_297del (p.Ser99fs) DEL Pathogenic
182954 rs730882015 GRCh37: 17:7579390-7579393
GRCh38: 17:7676072-7676075

Expression for Li-Fraumeni Syndrome 1

Search GEO for disease gene expression data for Li-Fraumeni Syndrome 1.

Pathways for Li-Fraumeni Syndrome 1

Pathways related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.24 TP53 TNFRSF10D EDN2
2
Show member pathways
11.19 TP53 CHEK2
3 11.13 TP53 CHEK2
4
Show member pathways
11.06 TP53 CHEK2
5 11.01 TP53 CHEK2
6 10.9 TP53 CHEK2
7 10.76 TP53 CHEK2
8 10.66 TP53 TNFRSF10D
9 9.4 TP53 CHEK2

GO Terms for Li-Fraumeni Syndrome 1

Biological processes related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to gamma radiation GO:0071480 9.67 CHEK2 TP53
2 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.56 CHEK2 TP53
3 response to gamma radiation GO:0010332 9.5 CHEK2 TP53
4 replicative senescence GO:0090399 9.46 CHEK2 TP53
5 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.26 CHEK2 TP53
6 thymocyte apoptotic process GO:0070242 8.92 CHEK2 TP53

Sources for Li-Fraumeni Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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