LFS
MCID: LFR001
MIFTS: 75

Li-Fraumeni Syndrome (LFS) malady

Reproductive, Neuronal, Endocrine, Cancer, Genetic categories

Summaries for Li-Fraumeni Syndrome

Sources:
43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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MedlinePlus:34 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 uterine sarcoma, and has symptoms including autosomal dominant inheritance, lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer and neoplasms/tumors. 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 skin, liver and brain, and related mouse phenotypes are limbs/digits/tail and pigmentation.

NIH Rare Diseases:43 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

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.

Wikipedia:64 Li–Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. Named after... more...

Description from OMIM:47 151623,609265,609266

GeneReviews summary for li-fraumeni

Aliases & Classifications for Li-Fraumeni Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Reproductive, Neuronal, Endocrine


Characteristics (Orphanet epidemiological data):

49
li-fraumeni syndrome:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

li-fraumeni syndrome 8 9 64 19 43 20 22 21 47 10 45 49 61
sbla syndrome 64 19 43 21
sarcoma family syndrome of li and fraumeni 64 43 21
breast diseases 45 34 61
sarcoma, breast, leukemia, and adrenal gland syndrome 64 21
sarcoma 19 61
lfs 64 21
li-fraumeni familiar cancer susceptibility syndrome 8
li-fraumeni syndrome 1 61
leukemia,adrenal gland 19
breast disease 10
breast 19
lfs1 43


External Ids:

Disease Ontology8 DOID:3012
NCIt40 C3476
MeSH35 D016864
MESH via Orphanet36 D016864
SNOMED-CT57 428850001
ICD10 via Orphanet26 D48.9
SNOMED-CT via Orphanet58 428850001
UMLS via Orphanet62 C0085390

Related Diseases for Li-Fraumeni Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Li-Fraumeni Syndrome family:

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 1546)
idRelated DiseaseScoreTop Affiliating Genes
1synovial sarcoma31.7MYCN, NF1, MDM2
2uterine sarcoma31.4MDM2
3ductal carcinoma in situ31.1TP53, BRCA2, BRCA1
4adenocarcinoma30.5TP53, PTEN, MSH2, TERC, CDKN1A, CDKN2A
5fanconi's anemia30.4TERC, CHEK1, ATM, MLH1, BRCA2, BRCA1
6gastrointestinal stromal tumor30.4NF1
7wilms tumor30.4TERC, MYCN, BRCA2
8atypical mole syndrome30.3CDKN2A, BRCA2
9myelodysplastic syndromes30.3TERC, NF1, CHEK2
10pilocytic astrocytoma30.3PTEN, NF1, IDH1
11bilateral breast cancer30.3CHEK2, ATM, BRCA2, BRCA1
12acute leukemia30.3MSH2, TERC, NF1, ATM
13ataxia telangiectasia30.3TP53, CDKN1A, CHEK1, CHEK2, ATM, MDM2
14adenoma30.3TP53, MSH2, TERC, CDKN1A, CDKN2A, ATM
15colorectal cancer30.3TP53, PTEN, MSH2, CDKN1A, CDKN2A, NF1
16astrocytoma30.3TP53, PTEN, MSH2, TERC, CDKN1A, CDKN2A
17alveolar rhabdomyosarcoma30.3MYCN, RB1, MDM2
18peutz-jeghers syndrome30.2PTEN, BRCA2
19cowden disease30.2PTEN, BRCA2, BRCA1
20squamous cell carcinoma30.2TP53, PTEN, MSH2, TERC, CDKN1A, CDKN2A
21paraganglioma30.1NF1
22neurofibromatosis30.1MSH2, NF1, MLH1, BRCA2
23teratoma30.1TERC
24breast-ovarian cancer, familial, 230.1BRCA2
25ulcerative colitis30.0TP53
26gliosarcoma30.0PTEN
27thyroid cancer30.0TP53, PTEN, CDKN1A
28dedifferentiated liposarcoma30.0RB1, MDM2
29brca1 and brca2 hereditary breast and ovarian cancer29.9BRCA2, BRCA1
30peritoneal carcinoma29.9BRCA2, BRCA1
31nijmegen breakage syndrome29.9CHEK2, ATM, BRCA1
32cystadenoma29.9BRCA1
33werner syndrome29.9ATM, MLH1, BRCA1
34familial adenomatous polyposis29.9TP53, MSH2, MLH1, BRCA1
35bloom syndrome29.8ATM, BRCA2, BRCA1
36stomach cancer29.7TP53
37tongue cancer29.7CDKN1A
38giant cell glioblastoma29.7PTEN, MDM2
39turcot syndrome29.7MSH2, MLH1
40brain cancer29.7MYCN, MDM2
41oral cancer29.7TP53, TERC, CDKN1A, CDKN2A, RB1, MDM2
42infertility29.7TERC
43deficiency anemia29.7TERC, BRCA1
44transitional cell carcinoma29.6TP53, MSH2, TERC, CDKN1A, MLH1, RB1
45leukoplakia29.5TERC
46juvenile myelomonocytic leukemia29.5NF1
47dysgerminoma29.5BRCA2, BRCA1
48xeroderma pigmentosum29.5TP53, XPC, BRCA1
49mantle cell lymphoma29.5ATM, MDM2
50acute lymphoblastic leukemia, childhood29.5CDKN2A, ATM, MDM2

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



Diseases related to li-fraumeni syndrome

Clinical Features for Li-Fraumeni Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

151623,609265,609266

Clinical synopsis from OMIM:

151623

Symptoms:

49 (show all 16)
  • autosomal dominant inheritance
  • 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
  • cortical adrenal neoplasm/tumor/carcinoma/cancer
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • oropharyngeal neoplasm/tumor/carcinoma/cancer
  • melanoma

Drugs & Therapeutics for Li-Fraumeni Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Li-Fraumeni Syndrome

Sources:
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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Li-Fraumeni Syndrome:

33
Skin, Liver, Brain, Adrenal gland, Breast

Animal Models for Li-Fraumeni Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

37 (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

Sources:
51PubMed
See all sources

Articles related to Li-Fraumeni Syndrome:

(show all 21)
idTitleAuthorsYear
1
Divergent control of Cav-1 expression in non-cancerous Li-Fraumeni syndrome and human cancer cell lines. (23114650)
2013
2
Surgery for Li Fraumeni Syndrome: Pushing the Limits of Surgical Oncology. (23563208)
2013
3
Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature. (22672556)
2012
4
Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a CD44 variant isoform after chemotherapy. (23031740)
2012
5
Giant liposarcoma of the esophagus with Li-Fraumeni-like syndrome. (21454085)
2011
6
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. (21305319)
2011
7
p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome. (20028212)
2010
8
A molecular approach for identifying individuals with Li-Fraumeni syndrome who have a limited family history. (19250386)
2009
9
Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome. (20017945)
2009
10
Joint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome. (16912210)
2006
11
Germ line BAX alterations are infrequent in Li-Fraumeni syndrome. (15298965)
2004
12
Immortal, telomerase-negative cell lines derived from a Li-Fraumeni syndrome patient exhibit telomere length variability and chromosomal and minisatellite instabilities. (12771041)
2003
13
Individual-specific liability groups in genetic linkage, with applications to kindreds with Li-Fraumeni syndrome. (11822026)
2002
14
Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2. (10432928)
1999
15
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. (10617473)
1999
16
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
17
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
18
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. (7887414)
1995
19
Li-Fraumeni syndrome and germ-line mutations of the p53 gene]. (8087224)
1994
20
Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family. (8084585)
1994
21
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. (2259385)
1990

Genetic Variations for Li-Fraumeni Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Li-Fraumeni Syndrome:

63 (show all 85)
id Symbol AA change Variation 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

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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 54Reactome, 53R&D Systems, 12EMD Millipore, 60Tocris Bioscience, 30KEGG, 56SinoBiological, 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
Hide members
8.6BRCA1, BRCA2, XPC, MLH1, ATM, CHEK2
39
Hide members
8.5BRCA1, BRCA2, MDM2, TP53, CDKN1A, NF1
40
Hide members
8.5MDM2, RB1, ATM, CHEK2, CHEK1, CDKN2A
41
Hide members
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
Hide members
8.0CHEK2, CHEK1, MSH2, PTEN, TP53, ATM
46
Hide members
8.0RB1, MDM2, BRCA1, ATM, CHEK2, TP53
47
Hide members
7.7BRCA1, BRCA2, XPC, MDM2, RB1, ATM
48
Hide members
7.7BRCA1, MDM2, RB1, ATM, CHEK2, CHEK1
497.5CHEK2, CHEK1, NF1, MSH2, PTEN, TP53
50
Hide members
7.3MSH2, BRCA1, BRCA2, XPC, MDM2, RB1

Compounds for genes affiliated with Li-Fraumeni Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 2BitterDB
See all sources

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

(show top 50)    (show all 136)
idCompoundScoreTop Affiliating Genes
1estrogen4510.6NF1
2resveratrol45 60 11 2413.4BRCA2
3vincristine45 50 1111.7BRCA2, RB1, MYCN, BRCA1
4hpvs459.7CDKN1A, CDKN2A, RB1, TP53
5indole-3-carbinol459.6BRCA2, PTEN, CDKN1A, TP53, BRCA1
6cycloheximide459.6BRCA2, MYCN, BRCA1
7o6-methylguanine459.6TP53, MSH2, CDKN2A, MLH1, BRCA2
8roscovitine459.6RB1, MDM2, CDKN2A, CDKN1A, TP53
9benzo(a)pyrene459.5BRCA1, TP53, CDKN1A, RB1, MDM2, XPC
107-hydroxystaurosporine45 1110.4CDKN1A, RB1, TP53, CHEK1
11flavopiridol45 1110.4MDM2, CDKN2A, RB1, CDKN1A, TP53
12docetaxel45 50 60 1112.4CDKN1A, CDKN2A, BRCA1, BRCA2, MDM2, TP53
13h2o2459.4CDKN2A, CDKN1A, RB1, PTEN, CHEK1
14crcs459.4PTEN, MLH1, RB1, CDKN2A, TP53, MSH2
15mitomycin c459.4BRCA1, MDM2, RB1, BRCA2, ATM, TP53
165-aza-2deoxycytidine459.4CDKN2A, CDKN1A, TP53, PTEN, BRCA1, MDM2
17bpde459.3BRCA1, CHEK1, ATM, MDM2, TP53, CHEK2
18irinotecan45 50 1111.3TP53, CDKN1A, CDKN2A, CHEK1, MLH1, MDM2
19carboplatin45 50 1111.3RB1, MLH1, MSH2, TP53, MDM2, BRCA1
20methylmethanesulfonate459.2CDKN1A, MDM2, TP53, CHEK1, BRCA2, BRCA1
21adpribose459.2MDM2, BRCA1, BRCA2, RB1, CDKN1A, TP53
22gemcitabine45 50 1111.1CHEK2, TP53, PTEN, CHEK1, BRCA1, MLH1
23cytarabine45 50 1111.1CDKN1A, RB1, CDKN2A, CHEK1, ATM, TP53
24aphidicolin459.0TP53, BRCA1, RB1, ATM, CHEK2, CHEK1
25temozolomide45 1110.0CDKN1A, MSH2, TP53, CDKN2A, CHEK1, MLH1
26thymidylate459.0CDKN2A, MLH1, BRCA1, MDM2, RB1, CDKN1A
27paclitaxel45 50 1110.9BRCA1, RB1, MDM2, BRCA2, CDKN2A, CDKN1A
28agar458.8BRCA1, MDM2, RB1, MYCN, CDKN2A, CDKN1A
29mg 13245 609.7CDKN1A, BRCA1, MDM2, CHEK1, MYCN, CDKN2A
30adriamycin458.6MDM2, RB1, CHEK2, CHEK1, MYCN, CDKN2A
31rapamycin458.5RB1, ATM, CHEK2, NF1, CDKN1A, PTEN
32hydroxyurea45 50 1110.5BRCA1, BRCA2, ATM, CHEK2, CHEK1, MYCN
33genistein45 29 60 2 11 2413.5BRCA1, BRCA2, CDKN1A, MDM2, PTEN, CDKN2A
34vegf458.4MLH1, MYCN, CDKN1A, CDKN2A, TP53, PTEN
35etoposide45 50 60 1111.4BRCA1, BRCA2, MDM2, RB1, MLH1, ATM
36phosphatidylinositol458.4BRCA2, CDS1, PTEN, NF1, CHEK1, ATM
37thymidine45 249.4MDM2, RB1, BRCA2, BRCA1, TP53, CDKN1A
38oxygen45 249.2CHEK1, CDKN1A, PTEN, CDKN2A, CHEK2, ATM
39camptothecin45 60 1110.2CDKN1A, TP53, CDKN2A, BRCA1, BRCA2, MDM2
40threonine458.1CDKN1A, CDKN2A, CHEK1, CHEK2, MDM2, ATM
415fluorouracil457.9MSH2, MLH1, RB1, MDM2, BRCA1, CHEK1
42paraffin457.9PTEN, MSH2, TERC, CDKN1A, MYCN, NF1
43atp45 298.8XPC, RB1, MLH1, ATM, CHEK2, CHEK1
44progesterone45 60 29 11 2411.8PTEN, TERC, CDKN1A, NF1, CHEK1, MLH1
45tyrosine457.5MYCN, CDKN1A, PTEN, NF1, CHEK1, CHEK2
46retinoic acid45 248.4CDKN1A, TERC, MLH1, PTEN, TP53, RB1
47serine457.3RB1, TP53, CHEK2, MDM2, CHEK1, MYCN
48oligonucleotide457.2TP53, PTEN, TERC, CDKN1A, CDKN2A, MYCN
49doxorubicin45 50 119.1BRCA1, MDM2, RB1, MLH1, ATM, CHEK2
50cisplatin45 50 60 119.7CHEK2, CHEK1, CDKN2A, CDKN1A, TERC, MSH2

GO Terms for genes affiliated with Li-Fraumeni Syndrome

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Li-Fraumeni Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet