LFS
MCID: LFR001
MIFTS: 93

Li-Fraumeni Syndrome (LFS) malady

Reproductive diseases, Neuronal diseases, Endocrine diseases, Cancer diseases, Genetic diseases categories

Summaries for Li-Fraumeni Syndrome

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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MedlinePlus:33 Most women experience breast changes at some time. your age, hormone levels, and medicines you take may cause lumps, bumps, and discharges (fluids that are not breast milk). if you have a breast lump, pain, discharge or skin irritation, see your health care provider. minor and serious breast problems have similar symptoms. although many women fear cancer, most breast problems are not cancer. some common breast changes are fibrocystic breast changes - lumpiness, thickening and swelling, often just before a woman's period cysts - fluid-filled lumps fibroadenomas - solid, round, rubbery lumps that move easily when pushed, occurring most in younger women intraductal papillomas - growths similar to warts near the nipple blocked milk ducts milk production when a woman is not breastfeeding nih: national cancer institute

MalaCards: Li-Fraumeni Syndrome, also known as sbla syndrome, is related to synovial sarcoma and ductal carcinoma in situ, and has symptoms including melanoma, oropharyngeal neoplasm/tumor/carcinoma/cancer and skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma). An important gene associated with Li-Fraumeni Syndrome is TP53 (tumor protein p53), and among its related pathways are Aurora A signaling and GPCR Pathway. The drugs thiotepa and ifosfamide and the compounds estrogen and resveratrol have been mentioned in the context of this disorder. Affiliated tissues include breast, adrenal gland and brain, and related mouse phenotypes are limbs/digits/tail and pigmentation.

Genetics Home Reference:21 Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

NIH Rare Diseases:42 Li-fraumeni syndrome is a condition that greatly increases a person's likelihood of developing cancer, particularly at an unusually young age. affected individuals also have an increased likelihood to develop more than one cancer during the lifetime. cancers most often associated with li-fraumeni syndrome include sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, and cancer of the adrenal gland (adrenocortical carcinoma), though there may be an increased risk to develop other types of cancer as well. this condition is caused by mutations in the tp53 gene and is inherited in an autosomal dominant manner. last updated: 1/17/2013

Wikipedia:63 Li–Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. Named after... more...

Description from OMIM:46 151623,609265,609266

GeneReviews summary for li-fraumeni

Aliases & Classifications for Li-Fraumeni Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
li-fraumeni syndrome:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

li-fraumeni syndrome 8 9 63 19 42 20 22 21 46 10 44 48 60
sbla syndrome 63 19 42 21
sarcoma family syndrome of li and fraumeni 63 42 21
breast diseases 44 33 60
sarcoma, breast, leukemia, and adrenal gland syndrome 63 21
sarcoma 19 60
lfs 63 21
li-fraumeni familiar cancer susceptibility syndrome 8
li-fraumeni syndrome 1 60
leukemia,adrenal gland 19
breast disease 10
breast 19
lfs1 42


External Ids:

Disease Ontology8 DOID:3012
NCIt39 C3476
MeSH34 D016864
MESH via Orphanet35 D016864
SNOMED-CT56 428850001
ICD10 via Orphanet26 D48.9
SNOMED-CT via Orphanet57 428850001
UMLS via Orphanet61 C0085390

Related Diseases for Li-Fraumeni Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome, Chek2-Related Li-Fraumeni Syndrome 3

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

(show top 50)    (show all 1561)
idRelated DiseaseScoreTop Affiliating Genes
1synovial sarcoma31.6MYCN, NF1, MDM2
2ductal carcinoma in situ31.4TP53, BRCA2, BRCA1
3breast cancer31.0CHEK2, ATM
4sarcoma30.9TP53, MSH2, MYCN, NF1, CHEK2, MLH1
5peripheral primitive neuroectodermal tumor30.9MYCN, RB1, MDM2
6rhabdomyosarcoma30.7TP53, MYCN, RB1, MDM2
7osteosarcoma30.7TP53, CDKN1A, CDKN2A, MYCN, CHEK1, CHEK2
8endometriosis30.6PTEN
9hepatitis30.6MYCN
10chondrosarcoma30.5MDM2
11pancreatic cancer30.5TERC, CDKN1A, CDKN2A, ATM, BRCA2
12adenocarcinoma30.5TP53, PTEN, MSH2, TERC, CDKN1A, CDKN2A
13melanoma30.4TP53, PTEN, MSH2, TERC, CDKN1A, CDKN2A
14leukemia30.4TP53, MSH2, TERC, CDKN1A, CDKN2A, MYCN
15neuroblastoma30.4TP53, MYCN
16gastrointestinal stromal tumor30.4NF1
17retinoblastoma30.4TP53, TERC, CDKN1A, CDKN2A, MYCN, NF1
18malignant peripheral nerve sheath tumor30.3CDKN2A, NF1, MDM2
19malignant mesothelioma30.3CDKN2A
20meningioma30.3PTEN, NF1
21myeloid leukemia30.3CDKN1A, NF1
22brca1 and brca2 hereditary breast and ovarian cancer30.3BRCA2, BRCA1
23leiomyosarcoma30.3TP53, RB1, MDM2
24pilocytic astrocytoma30.3PTEN, NF1, IDH1
25lynch syndrome30.3MSH2, MLH1
26bilateral breast cancer30.3CHEK2, ATM, BRCA2, BRCA1
27fibrosarcoma30.3CDKN1A, MDM2
28lung adenocarcinoma30.3TP53, CDKN1A, CDKN2A, RB1
29acute leukemia30.3MSH2, TERC, NF1, ATM
30liposarcoma30.3TP53, MSH2, TERC, RB1, MDM2
31ataxia telangiectasia30.3TP53, CDKN1A, CHEK1, CHEK2, ATM, MDM2
32lung cancer30.3TP53, TERC, CDKN1A, MYCN, CHEK2, ATM
33ovarian cancer30.3TP53, PTEN, MSH2, TERC, CDKN1A, MLH1
34colorectal cancer30.2TP53, PTEN, MSH2, CDKN1A, CDKN2A, NF1
35astrocytoma30.2TP53, PTEN, MSH2, TERC, CDKN1A, CDKN2A
36alveolar rhabdomyosarcoma30.2MYCN, RB1, MDM2
37breast-ovarian cancer, familial, 230.2BRCA2
38hematologic cancer30.2RB1
39adenoma30.2TP53, MSH2, TERC, CDKN1A, CDKN2A, ATM
40peutz-jeghers syndrome30.2PTEN, BRCA2
41burkitt's lymphoma30.2CHEK1, CHEK2, ATM
42squamous cell carcinoma30.2TP53, PTEN, MSH2, TERC, CDKN1A, CDKN2A
43uterine sarcoma30.1MDM2
44cowden disease30.1PTEN, BRCA2, BRCA1
45hemangioma30.1NF1
46paraganglioma30.1NF1
47transitional cell carcinoma30.1TP53, MSH2, TERC, CDKN1A, MLH1, RB1
48hodgkin's lymphoma30.1ATM, MDM2, BRCA2, BRCA1
49neurofibromatosis30.1MSH2, NF1, MLH1, BRCA2
50hepatocellular carcinoma30.1TP53, PTEN, TERC, CDKN1A, CDKN2A, RB1

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



Diseases related to li-fraumeni syndrome

Clinical Features for Li-Fraumeni Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

151623,609265,609266

Clinical synopsis from OMIM:

151623

Symptoms:

48 (show all 16)
  • melanoma
  • oropharyngeal neoplasm/tumor/carcinoma/cancer
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • cortical adrenal neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • neoplasms/tumors
  • colon neoplasm/tumor/carcinoma/cancer
  • sarcoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • acute leukemia
  • lymphoma
  • breast neoplasm/tumor/carcinoma/cancer
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance

Drugs & Therapeutics for Li-Fraumeni Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Li-Fraumeni Syndrome

Drug clinical trials:

Search ClinicalTrials for Li-Fraumeni Syndrome

Search NIH Clinical Center for Li-Fraumeni Syndrome

Search CenterWatch for Li-Fraumeni Syndrome

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Li-Fraumeni Syndrome

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20GeneTests, 22GTR
See all sources

Genetic tests related to Li-Fraumeni Syndrome:

id Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome20 22 TP53

Anatomical Context for Li-Fraumeni Syndrome

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32MalaCards
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MalaCards organs/tissues related to Li-Fraumeni Syndrome:

32
Breast, Adrenal gland, Brain, Skin, Bone, Lung, Testes, Colon, Pancreas, Myeloid, Liver

Animal Models for Li-Fraumeni Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

36 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.5BRCA2
2MP:000118610.4NF1
3MP:000363110.2CDKN1A, NF1
4MP:00053679.6MYCN, BRCA1
5MP:00053909.0BRCA1, BRCA2, RB1, NF1, MYCN, CDKN1A
6MP:00053828.6MDM2, RB1, NF1, MYCN, CDKN1A, PTEN
7MP:00053698.6MDM2, RB1, NF1, MYCN, CDKN2A, CDKN1A
8MP:00053708.6MDM2, RB1, NF1, MYCN, CDKN2A, CDKN1A
9MP:00053768.5BRCA1, BRCA2, IDH1, XPC, CHEK2, NF1
10MP:00107718.5BRCA1, BRCA2, XPC, MDM2, RB1, CDKN2A
11MP:00028738.5BRCA2, MDM2, RB1, NF1, MYCN, PTEN
12MP:00053888.5BRCA1, RB1, NF1, MYCN, CDKN1A, TERC
13MP:00053898.1BRCA1, BRCA2, MLH1, CHEK1, MYCN, CDKN2A
14MP:00053797.8ATM, MLH1, RB1, BRCA2, CHEK1, NF1
15MP:00053817.7BRCA1, BRCA2, MDM2, RB1, MLH1, MYCN
16MP:00053857.6BRCA1, MDM2, RB1, CHEK1, NF1, MYCN
17MP:00053867.5RB1, MDM2, XPC, BRCA2, BRCA1, ATM
18MP:00053787.4RB1, MDM2, XPC, BRCA2, BRCA1, ATM
19MP:00053877.2TP53, BRCA1, BRCA2, IDH1, MDM2, RB1
20MP:00053976.8ATM, RB1, MDM2, IDH1, BRCA2, BRCA1
21MP:00020066.6TP53, BRCA1, BRCA2, XPC, MDM2, RB1
22MP:00053846.3ATM, MLH1, RB1, MDM2, XPC, BRCA2
23MP:00107686.2ATM, MLH1, RB1, MDM2, XPC, BRCA2

Publications for Li-Fraumeni Syndrome

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Sources:
50PubMed
See all sources

Articles related to Li-Fraumeni Syndrome:

(show top 50)    (show all 220)
idTitleAuthorsYear
1
Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome. (22495821)
2013
2
Li Fraumeni syndrome, cancer and senescence: a new hypothesis. (23587008)
2013
3
Multiple Metachronous Osteosarcomas in a Patient with Li-Fraumeni Syndrome. (24274641)
2013
4
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. (22939227)
2012
5
A prospective biological study in relation to a family with Li-Fraumeni syndrome. (22551548)
2012
6
Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. (22392042)
2012
7
Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion. (22691290)
2012
8
Gastric cancer in individuals with Li-Fraumeni syndrome. (21552135)
2011
9
Li-Fraumeni syndrome and the role of the pediatric nurse practitioner. (21278043)
2011
10
An introduction to Li-Fraumeni syndrome. (21473531)
2011
11
Rhodotorula mucilaginosa infection in Li-Fraumeni-like syndrome: a new pathogen in folliculitis. (21275940)
2011
12
The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube. (19834951)
2010
13
p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome. (20028212)
2010
14
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
15
Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences. (20479422)
2010
16
Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements. (19367569)
2009
17
Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. (19204208)
2009
18
Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome. (19378321)
2009
19
Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome. (20017945)
2009
20
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. (19542078)
2009
21
F18-fluorodeoxyglucose-positron emission tomography/computed tomography screening in Li-Fraumeni syndrome. (18349092)
2008
22
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. (16494995)
2007
23
Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation. (16333835)
2007
24
p53 therapy in a patient with Li-Fraumeni syndrome. (17483435)
2007
25
Balanced t(11;15)(q23;q15) in a TP53+/+ breast cancer patient from a Li-Fraumeni syndrome family. (16772121)
2006
26
Li-Fraumeni syndrome: a p53 family affair. (15917654)
2005
27
Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome. (15719270)
2005
28
Prenatal diagnosis history of a Li-Fraumeni syndrome family. (15721647)
2005
29
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. (12584563)
2003
30
Novel p53 germline mutation in a patient with Li-Fraumeni syndrome. (14656244)
2003
31
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
32
General keynote: hereditary cancer: lessons from Li-Fraumeni syndrome. (12586075)
2003
33
Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. (12471212)
2002
34
Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome. (12442270)
2002
35
Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome? (12181637)
2002
36
Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers]. (12406399)
2002
37
Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome. (14965603)
2001
38
Predominance of brain tumors in an extended Li-Fraumeni (SBLA) kindred, including a case of Sturge-Weber syndrome. (10640978)
2000
39
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. (10389970)
1999
40
Characterization of the oligomerization defects of two p53 mutants found in families with Li-Fraumeni and Li-Fraumeni-like syndrome. (9704931)
1998
41
Li-Fraumeni syndrome and osteosarcoma of the maxilla. (9734777)
1998
42
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. (9764816)
1998
43
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. (9569035)
1998
44
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
45
The first documentation of Li-Fraumeni syndrome in Korea. (8527048)
1995
46
Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome. (7799951)
1995
47
Li-Fraumeni syndrome. (7863100)
1994
48
p53 and the Li-Fraumeni syndrome. (7819275)
1994
49
p53 and the Li-Fraumeni syndrome. (8500106)
1993
50
Li-Fraumeni syndrome: a case report from Italy. (2310687)
1990

Genetic Variations for Li-Fraumeni Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Li-Fraumeni Syndrome:

62 (show all 85)
id Symbol AA change Variation ID SNP ID
1CDKN2Ap.Ala102GluVAR_015818
2CHEK2p.Arg145TrpVAR_008554
3TP53p.Met133ThrVAR_005875rs28934873
4TP53p.Ala138ProVAR_005881rs28934875
5TP53p.Cys141TyrVAR_005886
6TP53p.Pro151SerVAR_005895rs28934874
7TP53p.Pro151ThrVAR_005896
8TP53p.Pro152LeuVAR_005897
9TP53p.Arg158GlyVAR_005906
10TP53p.Arg158HisVAR_005907
11TP53p.Val173MetVAR_005926
12TP53p.Arg175GlyVAR_005929
13TP53p.Arg175LeuVAR_005930
14TP53p.Arg175HisVAR_005932rs28934578
15TP53p.His193ArgVAR_005948
16TP53p.Arg213GlnVAR_005955
17TP53p.Tyr220CysVAR_005957
18TP53p.Tyr234CysVAR_005963
19TP53p.Met237IleVAR_005965
20TP53p.Ser241PheVAR_005969rs28934573
21TP53p.Gly245CysVAR_005972
22TP53p.Gly245AspVAR_005973
23TP53p.Gly245SerVAR_005974rs28934575
24TP53p.Gly245ValVAR_005975
25TP53p.Met246ValVAR_005978
26TP53p.Arg248GlnVAR_005983rs11540652
27TP53p.Arg248TrpVAR_005984
28TP53p.Leu252ProVAR_005988
29TP53p.Glu258LysVAR_005991
30TP53p.Val272LeuVAR_005992
31TP53p.Arg273CysVAR_005993
32TP53p.Arg273GlyVAR_005994
33TP53p.Arg273HisVAR_005995rs28934576
34TP53p.Cys275TyrVAR_005998
35TP53p.Pro278LeuVAR_006003
36TP53p.Pro278SerVAR_006004
37TP53p.Pro278ThrVAR_006005
38TP53p.Arg282TrpVAR_006016rs28934574
39TP53p.Arg283CysVAR_006017
40TP53p.Glu285GlnVAR_006024
41TP53p.Glu286AlaVAR_006026
42TP53p.Pro309SerVAR_006038
43TP53p.Gly325ValVAR_006039rs28934271
44TP53p.Arg337CysVAR_006041
45TP53p.Lys292IleVAR_015819
46TP53p.Tyr163CysVAR_033035
47TP53p.Arg337HisVAR_035016
48TP53p.Arg213ProVAR_036506
49TP53p.Arg273LeuVAR_036509
50TP53p.Pro82LeuVAR_044621
51TP53p.Gly105CysVAR_044661
52TP53p.Lys132GluVAR_044740
53TP53p.Met133ArgVAR_044747
54TP53p.Ala138SerVAR_044764
55TP53p.Gln144LeuVAR_044790
56TP53p.Thr155AsnVAR_044836
57TP53p.Arg156HisVAR_044841
58TP53p.Gln167LysVAR_044885
59TP53p.Val172PheVAR_044906
60TP53p.Arg174GlyVAR_044911
61TP53p.His179TyrVAR_044939
62TP53p.Glu180LysVAR_044943
63TP53p.Arg181CysVAR_044946
64TP53p.Arg181HisVAR_044948
65TP53p.Arg196ProVAR_045007
66TP53p.Val197MetVAR_045013
67TP53p.Ser227ThrVAR_045151
68TP53p.His233AspVAR_045175
69TP53p.Asn235SerVAR_045186
70TP53p.Tyr236CysVAR_045189
71TP53p.Cys238GlyVAR_045200
72TP53p.Cys238SerVAR_045202
73TP53p.Gly244AspVAR_045232rs28934572
74TP53p.Gly244ValVAR_045236
75TP53p.Ile251MetVAR_045258
76TP53p.Leu257GlnVAR_045284rs28934577
77TP53p.Leu265ProVAR_045321
78TP53p.Arg267GlnVAR_045330
79TP53p.Arg282GlyVAR_045384
80TP53p.Arg290HisVAR_045411rs55819519
81TP53p.Arg290LeuVAR_045412
82TP53p.Arg306ProVAR_045475
83TP53p.Leu344ProVAR_045546
84TP53p.Ser241ThrVAR_047183
85TP53p.Asp281AsnVAR_047202

Expression for genes affiliated with Li-Fraumeni Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Li-Fraumeni Syndrome

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

Pathways for genes affiliated with Li-Fraumeni Syndrome

About this section
Sources:
37NCBI BioSystems Database, 51QIAGEN, 53Reactome, 52R&D Systems, 12EMD Millipore, 59Tocris Bioscience, 29KEGG, 55SinoBiological, 4Cell Signaling Technology
See all sources

Pathways related to Li-Fraumeni Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TP53, MDM2, BRCA1
2
Hide members
9.8TP53, BRCA2, BRCA1
39.8BRCA1, ATM, TP53
4
Hide members
9.7BRCA1, BRCA2, ATM
59.7TP53, PTEN, CDKN1A, MDM2
6
Hide members
9.7TP53, PTEN, CDKN1A, MDM2
79.6MDM2, RB1, CDKN2A, TP53
89.6TP53, CDKN1A, ATM, BRCA1
99.6BRCA1, CHEK2, CHEK1
10
Hide members
9.5BRCA1, BRCA2, XPC, ATM
11
Hide members
9.5ATM, CHEK2, CHEK1
12
Hide members
9.5ATM, MLH1, BRCA2, BRCA1
13
Hide members
9.5CHEK1, ATM, MDM2
149.5BRCA1, RB1, ATM, CDKN1A
159.4MDM2, ATM, CDKN2A, CDKN1A, TP53
16
Cell cycle Role of 14-3-3 proteins in cell cycle regulation
Hide members
9.3ATM, CHEK2, CHEK1, TP53
17
Hide members
9.3TP53, CDKN1A, CDKN2A, ATM, RB1
189.3BRCA1, MDM2, RB1, CDKN1A, PTEN
19
Hide members
9.3MDM2, RB1, ATM, CDKN2A, CDKN1A
209.2MDM2, ATM, MYCN, CDKN1A, TP53
21
Hide members
9.2MDM2, ATM, CDKN2A, CDKN1A, PTEN, TP53
229.2MDM2, RB1, CDKN2A, CDKN1A, PTEN, TP53
239.2MDM2, ATM, CHEK2, CHEK1, TP53
24
Hide members
9.1BRCA2, MDM2, RB1, CDKN2A, CDKN1A, TP53
259.1BRCA1, ATM, CHEK2, CHEK1, TP53
26
Hide members
9.0MDM2, MLH1, CDKN1A, MSH2, PTEN, TP53
279.0BRCA1, MDM2, ATM, CDKN2A, CDKN1A, PTEN
28
Hide members
9.0MDM2, RB1, ATM, CHEK2, CDKN2A, CDKN1A
29
Transcription P53 signaling pathway
Hide members
8.9XPC, MDM2, RB1, ATM, CDKN2A, CDKN1A
308.9MDM2, RB1, NF1, CDKN2A, CDKN1A, PTEN
318.9MDM2, RB1, CHEK1, CDKN2A, CDKN1A, TP53
32
Cell cycle Cell cycle (generic schema)
Hide members
8.8BRCA1, RB1, CHEK2, CHEK1, CDKN2A, CDKN1A
33
Hide members
8.8MDM2, RB1, ATM, CHEK2, CHEK1, CDKN1A
348.7MDM2, RB1, MLH1, CDKN1A, MSH2, PTEN
358.7BRCA1, MDM2, ATM, CHEK2, CHEK1, CDKN1A
368.7BRCA1, MDM2, ATM, CHEK2, CHEK1, CDKN1A
378.6RB1, ATM, CHEK2, CHEK1, CDKN2A, CDKN1A
38
DNA damage Role of Brca1 and Brca2 in DNA repair
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8.6BRCA1, BRCA2, XPC, MLH1, ATM, CHEK2
39
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8.5BRCA1, BRCA2, MDM2, TP53, CDKN1A, NF1
40
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8.5MDM2, RB1, ATM, CHEK2, CHEK1, CDKN2A
41
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8.3BRCA1, MDM2, RB1, ATM, CHEK2, CHEK1
428.3BRCA2, MDM2, RB1, MLH1, CDKN2A, CDKN1A
438.2BRCA1, BRCA2, MDM2, ATM, CHEK2, CHEK1
448.2BRCA1, BRCA2, RB1, ATM, CHEK2, CHEK1
45
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8.0CHEK2, CHEK1, MSH2, PTEN, TP53, ATM
46
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8.0RB1, MDM2, BRCA1, ATM, CHEK2, TP53
47
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7.7BRCA1, BRCA2, XPC, MDM2, RB1, ATM
48
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7.7BRCA1, MDM2, RB1, ATM, CHEK2, CHEK1
497.5CHEK2, CHEK1, NF1, MSH2, PTEN, TP53
50
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7.3MSH2, BRCA1, BRCA2, XPC, MDM2, RB1

Compounds for genes affiliated with Li-Fraumeni Syndrome

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 2BitterDB
See all sources

Compounds related to Li-Fraumeni Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 136)
idCompoundScoreTop Affiliating Genes
1estrogen4410.6NF1
2resveratrol44 59 11 2413.4BRCA2
3vincristine44 49 1111.7BRCA2, RB1, MYCN, BRCA1
4hpvs449.7CDKN1A, CDKN2A, RB1, TP53
5indole-3-carbinol449.6BRCA2, PTEN, CDKN1A, TP53, BRCA1
6cycloheximide449.6BRCA2, MYCN, BRCA1
7o6-methylguanine449.6TP53, MSH2, CDKN2A, MLH1, BRCA2
8roscovitine449.6RB1, MDM2, CDKN2A, CDKN1A, TP53
9benzo(a)pyrene449.5BRCA1, TP53, CDKN1A, RB1, MDM2, XPC
107-hydroxystaurosporine44 1110.4CDKN1A, RB1, TP53, CHEK1
11flavopiridol44 1110.4MDM2, CDKN2A, RB1, CDKN1A, TP53
12docetaxel44 49 59 1112.4CDKN1A, CDKN2A, BRCA1, BRCA2, MDM2, TP53
13h2o2449.4CDKN2A, CDKN1A, RB1, PTEN, CHEK1
14crcs449.4PTEN, MLH1, RB1, CDKN2A, TP53, MSH2
15mitomycin c449.4BRCA1, MDM2, RB1, BRCA2, ATM, TP53
165-aza-2deoxycytidine449.4CDKN2A, CDKN1A, TP53, PTEN, BRCA1, MDM2
17bpde449.3BRCA1, CHEK1, ATM, MDM2, TP53, CHEK2
18irinotecan44 49 1111.3TP53, CDKN1A, CDKN2A, CHEK1, MLH1, MDM2
19carboplatin44 49 1111.3RB1, MLH1, MSH2, TP53, MDM2, BRCA1
20methylmethanesulfonate449.2CDKN1A, MDM2, TP53, CHEK1, BRCA2, BRCA1
21adpribose449.2MDM2, BRCA1, BRCA2, RB1, CDKN1A, TP53
22gemcitabine44 49 1111.1CHEK2, TP53, PTEN, CHEK1, BRCA1, MLH1
23cytarabine44 49 1111.1CDKN1A, RB1, CDKN2A, CHEK1, ATM, TP53
24aphidicolin449.0TP53, BRCA1, RB1, ATM, CHEK2, CHEK1
25temozolomide44 1110.0CDKN1A, MSH2, TP53, CDKN2A, CHEK1, MLH1
26thymidylate449.0CDKN2A, MLH1, BRCA1, MDM2, RB1, CDKN1A
27paclitaxel44 49 1110.9BRCA1, RB1, MDM2, BRCA2, CDKN2A, CDKN1A
28agar448.8BRCA1, MDM2, RB1, MYCN, CDKN2A, CDKN1A
29mg 13244 599.7CDKN1A, BRCA1, MDM2, CHEK1, MYCN, CDKN2A
30adriamycin448.6MDM2, RB1, CHEK2, CHEK1, MYCN, CDKN2A
31rapamycin448.5RB1, ATM, CHEK2, NF1, CDKN1A, PTEN
32hydroxyurea44 49 1110.5BRCA1, BRCA2, ATM, CHEK2, CHEK1, MYCN
33genistein44 28 59 2 11 2413.5BRCA1, BRCA2, CDKN1A, MDM2, PTEN, CDKN2A
34vegf448.4MLH1, MYCN, CDKN1A, CDKN2A, TP53, PTEN
35etoposide44 49 59 1111.4BRCA1, BRCA2, MDM2, RB1, MLH1, ATM
36phosphatidylinositol448.4BRCA2, CDS1, PTEN, NF1, CHEK1, ATM
37thymidine44 249.4MDM2, RB1, BRCA2, BRCA1, TP53, CDKN1A
38oxygen44 249.2CHEK1, CDKN1A, PTEN, CDKN2A, CHEK2, ATM
39camptothecin44 59 1110.2CDKN1A, TP53, CDKN2A, BRCA1, BRCA2, MDM2
40threonine448.1CDKN1A, CDKN2A, CHEK1, CHEK2, MDM2, ATM
415fluorouracil447.9MSH2, MLH1, RB1, MDM2, BRCA1, CHEK1
42paraffin447.9PTEN, MSH2, TERC, CDKN1A, MYCN, NF1
43atp44 288.8XPC, RB1, MLH1, ATM, CHEK2, CHEK1
44progesterone44 59 28 11 2411.8PTEN, TERC, CDKN1A, NF1, CHEK1, MLH1
45tyrosine447.5MYCN, CDKN1A, PTEN, NF1, CHEK1, CHEK2
46retinoic acid44 248.4CDKN1A, TERC, MLH1, PTEN, TP53, RB1
47serine447.3RB1, TP53, CHEK2, MDM2, CHEK1, MYCN
48oligonucleotide447.2TP53, PTEN, TERC, CDKN1A, CDKN2A, MYCN
49doxorubicin44 49 119.1BRCA1, MDM2, RB1, MLH1, ATM, CHEK2
50cisplatin44 49 59 119.7CHEK2, CHEK1, CDKN2A, CDKN1A, TERC, MSH2

GO Terms for genes affiliated with Li-Fraumeni Syndrome

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Sources:
16Gene Ontology
See all sources

Cellular components related to Li-Fraumeni Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:0166049.9TP53, CDKN2A, MDM2
2replication forkGO:0056579.8TP53, CHEK1
3PML bodyGO:0166059.7RB1, CHEK2, PTEN, TP53
4protein complexGO:0432349.6TP53, CDKN2A, MDM2, BRCA2, BRCA1
5chromatinGO:0007859.3RB1, CHEK1, MYCN, TP53
6chromosome, telomeric regionGO:0007819.2CHEK1, CHEK2, ATM
7nucleoplasmGO:0056547.9TP53, BRCA1, BRCA2, XPC, MDM2, RB1
8nucleusGO:0056347.0RB1, MDM2, XPC, BRCA2, BRCA1, MLH1

Biological processes related to Li-Fraumeni Syndrome according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1mitotic cell cycle arrestGO:07185010.3CDKN1A, TP53
2positive regulation of cell cycle arrestGO:07115810.3TP53, CDKN2A, BRCA1
3negative regulation of neuroblast proliferationGO:00740610.3TP53, NF1
4response to gamma radiationGO:01033210.2TP53, CHEK2, BRCA2
5DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.2BRCA1, BRCA2, TP53
6intra-S DNA damage checkpointGO:03157310.2MSH2, XPC
7nucleotide-excision repairGO:00628910.1BRCA2, XPC, TP53
8protein stabilizationGO:05082110.1PTEN, CDKN2A, CHEK2
9postreplication repairGO:00630110.1MSH2, BRCA1
10regulation of protein catabolic processGO:04217610.1CHEK2, MDM2
11forebrain morphogenesisGO:04885310.1NF1, PTEN
12neuron apoptotic processGO:05140210.1RB1, ATM, TP53
13positive regulation of neuron apoptotic processGO:04352510.1TP53, NF1, ATM
14negative regulation of cell-matrix adhesionGO:00195310.1NF1, CDKN2A
15double-strand break repair via homologous recombinationGO:00072410.0BRCA1, BRCA2, ATM
16response to UV-BGO:01022410.0XPC, MSH2
17positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.0ATM, CDKN2A
18response to X-rayGO:01016510.0BRCA2, MSH2, TP53
19negative regulation of protein kinase activityGO:00646910.0CDKN2A, NF1, RB1
20intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:04277110.0BRCA2, MSH2, TP53
21intrinsic apoptotic signaling pathway in response to DNA damageGO:00863010.0BRCA1, MLH1, ATM, CHEK2
22DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00697710.0TP53, CDKN1A, ATM, MDM2
23somatic hypermutation of immunoglobulin genesGO:01644610.0MLH1, MSH2
24DNA damage induced protein phosphorylationGO:0069759.9CHEK1, CHEK2, ATM
25G2 DNA damage checkpointGO:0315729.8BRCA1, ATM, CHEK1
26determination of adult lifespanGO:0083409.8MSH2, TP53
27negative regulation of B cell proliferationGO:0308899.7CDKN2A, ATM
28negative regulation of transcription, DNA-dependentGO:0458929.7BRCA1, MDM2, RB1, CDKN2A, TP53
29Ras protein signal transductionGO:0072659.7RB1, NF1, CDKN2A, CDKN1A, TP53
30negative regulation of apoptotic processGO:0430669.6MDM2, ATM, CDKN1A, PTEN, TP53
31replicative senescenceGO:0903999.6TP53, CDKN2A, CHEK1, CHEK2, ATM
32positive regulation of transcription, DNA-dependentGO:0458939.5BRCA1, BRCA2, RB1, CHEK2, CDKN2A, TP53
33double-strand break repairGO:0063029.4BRCA1, BRCA2, ATM, CHEK2, MSH2, TP53
34cell cycle arrestGO:0070509.3RB1, ATM, CDKN2A, CDKN1A, MSH2, TP53
35response to DNA damage stimulusGO:0069749.3BRCA1, ATM, CHEK2, CHEK1, CDKN1A, TP53
36DNA repairGO:0062819.0BRCA1, BRCA2, XPC, ATM, CHEK1, MSH2

Molecular functions related to Li-Fraumeni Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1loop DNA bindingGO:00040410.2MSH2
2MDM2/MDM4 family protein bindingGO:09737110.1TP53, CDKN2A
3cyclin-dependent protein serine/threonine kinase inhibitor activityGO:00486110.0CDKN1A, CDKN2A
4guanine/thymine mispair bindingGO:0321379.9MLH1, MSH2
5p53 bindingGO:0020399.8TP53, CDKN2A, MDM2
6ubiquitin protein ligase bindingGO:0316259.7TP53, CHEK2, RB1, BRCA1
7single-stranded DNA bindingGO:0036979.6MSH2, MLH1, XPC, BRCA2
8protein kinase bindingGO:0199019.5CHEK2, CDKN2A, MSH2, PTEN, TP53
9enzyme bindingGO:0198999.5BRCA1, MDM2, MSH2, PTEN, TP53
10identical protein bindingGO:0428028.8MDM2, RB1, CHEK2, CHEK1, TP53
11protein bindingGO:0055156.5TP53, BRCA1, BRCA2, XPC, MDM2, RB1

Products for genes affiliated with Li-Fraumeni Syndrome

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Sources for Li-Fraumeni Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet