LFS
MCID: LFR001
MIFTS: 87

Li-Fraumeni Syndrome (LFS) malady

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

Summaries for Li-Fraumeni Syndrome

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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MedlinePlus:35 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 breast cancer and sarcoma, 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 PLK3 signaling events and Transcriptional activation of cell cycle inhibitor p21. The drugs thiotepa and ifosfamide and the compounds acnu and 10-hydroxycamptothecin have been mentioned in the context of this disorder. Affiliated tissues include breast, adrenal gland and brain, and related mouse phenotypes are liver/biliary system and pigmentation.

Genetics Home Reference:22 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:44 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:66 Li?Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. Named after Frederick... more...

Description from OMIM:48 609265,151623,609266

GeneReviews summary for li-fraumeni

Aliases & Classifications for Li-Fraumeni Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
li-fraumeni syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

li-fraumeni syndrome 9 10 66 20 44 21 23 22 48 11 46 50 63
sbla syndrome 66 20 44 22
sarcoma family syndrome of li and fraumeni 66 44 22
breast diseases 46 35 63
sarcoma, breast, leukemia, and adrenal gland syndrome 66 22
sarcoma 20 63
lfs 66 22
li-fraumeni familiar cancer susceptibility syndrome 9
li-fraumeni syndrome 1 63
leukemia,adrenal gland 20
breast disease 11
breast 20
lfs1 44


External Ids:

Disease Ontology9 DOID:3012
NCIt41 C3476
MeSH36 D016864
MESH via Orphanet37 D016864
SNOMED-CT59 428850001
ICD10 via Orphanet27 D48.9
SNOMED-CT via Orphanet60 428850001
UMLS via Orphanet64 C0085390

Related Diseases for Li-Fraumeni Syndrome

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Sources:
18GeneCards, 19GeneDecks
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 879)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.1BRCA1, BRCA2
2sarcoma31.0MLH1, TP53, BRCA2, CHEK2, MDM2
3osteosarcoma30.7TP53, CHEK2, MDM2, CDKN1A, CDKN2A
4meningioma30.5PTEN
5malignant peripheral nerve sheath tumor30.5MDM2, CDKN2A
6liposarcoma30.5TP53, MDM2
7leiomyosarcoma30.4MDM2, TP53
8lynch syndrome30.4BRCA2, BRCA1
9bilateral breast cancer30.4CHEK2, BRCA1, BRCA2
10lung adenocarcinoma30.4CDKN2A, CDKN1A, TP53
11lung cancer30.3TP53, CHEK2, MDM2, CDKN1A
12leukemia30.3MLH1, TP53, BRCA2, BRCA1, CHEK2, MDM2
13melanoma30.2MLH1, PTEN, TP53, BRCA2, CHEK2, XPC
14retinoblastoma30.2TP53, BRCA2, BRCA1, CHEK2, MDM2, CDKN1A
15neurofibromatosis30.2MLH1, BRCA2
16colorectal cancer30.2MLH1, PTEN, TP53, MDM2, CDKN1A, CDKN2A
17ataxia telangiectasia30.2TP53, BRCA2, BRCA1, CHEK2, MDM2, CDKN1A
18adenoma30.2MLH1, TP53, BRCA1, CDKN1A, CDKN2A
19adenocarcinoma30.2CDKN2A, MLH1, PTEN, TP53, BRCA2, BRCA1
20gliosarcoma30.2PTEN
21b-cell lymphomas30.1CDKN2A, CDKN1A, MDM2, TP53
22ovarian cancer30.1MLH1, PTEN, TP53, BRCA2, BRCA1, MDM2
23hodgkin's lymphoma30.1MDM2, BRCA1, BRCA2
24astrocytoma30.1MLH1, PTEN, TP53, BRCA1, XPC, MDM2
25ductal carcinoma in situ30.0BRCA1, BRCA2, TP53
26werner syndrome29.9BRCA1, MLH1
27thyroid cancer29.9PTEN, TP53, CDKN1A
28giant cell glioblastoma29.9MDM2, PTEN
29turcot syndrome29.9PTEN, MLH1
30oligodendroglioma29.9CDKN2A, PTEN
31cervical cancer29.9TP53, MDM2, CDKN1A, CDKN2A
32familial adenomatous polyposis29.8MLH1, TP53, BRCA1
33colon cancer29.7MLH1, TP53, CHEK2, CDKN1A
34ependymoma29.7MDM2
35glioblastoma multiforme29.7PTEN, TP53, MDM2, CDKN1A, CDKN2A
36lipoma29.6MDM2, PTEN
37stomach cancer29.6MLH1, PTEN, TP53, CHEK2, CDKN1A, CDKN2A
38dysgerminoma29.6BRCA2, BRCA1
39cervical adenocarcinoma29.6CDKN1A, CDKN2A
40gynecomastia29.6BRCA2, BRCA1
41xeroderma pigmentosum29.6XPC, BRCA1, TP53
42keratoacanthoma29.6MLH1, CDKN1A
43follicular thyroid carcinoma29.6CDKN1A, PTEN
44papillary thyroid carcinoma29.6PTEN, CDKN1A
45endometrial carcinoma29.6MLH1, PTEN, TP53, CDKN2A
46papilloma29.6CDKN2A, CDKN1A, TP53
47bladder carcinoma29.5CDKN2A, CDKN1A, MDM2, TP53
48prostate cancer29.5CDKN1A, CHEK2, PTEN
49breast cancer, invasive ductal29.5TP53, BRCA1, MDM2, CDKN1A
50kaposi's sarcoma11.2

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



Diseases related to li-fraumeni syndrome

Symptoms for Li-Fraumeni Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

151623

Clinical features from OMIM:

609265,151623,609266

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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 UMLS63/NDF-RT42:

Genetic Tests for Li-Fraumeni Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Li-Fraumeni Syndrome:

id Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome21 23 TP53

Anatomical Context for Li-Fraumeni Syndrome

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34MalaCards
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MalaCards organs/tissues related to Li-Fraumeni Syndrome:

34
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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38MGI
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MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

38 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5PTEN, TP53, MDM2, CDKN1A, CDKN2A
2MP:00011868.4PTEN, TP53, BRCA1, MDM2, CDKN2A
3MP:00053918.3PTEN, TP53, XPC, CDKN1A, CDKN2A
4MP:00053758.0PTEN, TP53, BRCA1, CDKN1A
5MP:00053678.0PTEN, TP53, BRCA1, MDM2, CDKN1A
6MP:00053888.0CDKN2A, CDKN1A, BRCA1, TP53, PTEN
7MP:00028737.9MDM2, BRCA1, BRCA2, TP53, PTEN
8MP:00053697.8PTEN, TP53, BRCA1, MDM2, CDKN1A, CDKN2A
9MP:00053717.6PTEN, TP53, BRCA2, BRCA1, MDM2, CDKN1A
10MP:00053907.3PTEN, TP53, BRCA2, BRCA1, MDM2, CDKN1A
11MP:00053807.2PTEN, TP53, BRCA2, BRCA1, MDM2, CDKN1A
12MP:00053797.2MLH1, PTEN, TP53, BRCA2, BRCA1, CDKN1A
13MP:00053977.0PTEN, TP53, BRCA2, BRCA1, CHEK2, MDM2
14MP:00053876.9PTEN, TP53, BRCA2, BRCA1, CHEK2, MDM2
15MP:00053816.9MLH1, PTEN, TP53, BRCA2, BRCA1, MDM2
16MP:00053896.9MLH1, PTEN, TP53, BRCA2, BRCA1, MDM2
17MP:00053866.8PTEN, TP53, BRCA2, BRCA1, XPC, MDM2
18MP:00036316.8PTEN, TP53, BRCA2, BRCA1, XPC, MDM2
19MP:00053786.8PTEN, TP53, BRCA2, BRCA1, XPC, MDM2
20MP:00053766.5MLH1, PTEN, TP53, BRCA2, BRCA1, CHEK2
21MP:00107716.5MLH1, PTEN, TP53, BRCA2, BRCA1, XPC
22MP:00020066.2CDKN2A, MLH1, PTEN, TP53, BRCA2, BRCA1
23MP:00053846.2MLH1, PTEN, TP53, BRCA2, BRCA1, CHEK2
24MP:00107686.2MLH1, PTEN, TP53, BRCA2, BRCA1, CHEK2

Publications for Li-Fraumeni Syndrome

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53PubMed
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Articles related to Li-Fraumeni Syndrome:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome. (24299451)
2013
2
Li-Fraumeni syndrome. (24367873)
2013
3
Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions. (23355100)
2013
4
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. (22939227)
2012
5
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. (21601526)
2011
6
Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome. (21464421)
2011
7
Gastric cancer in individuals with Li-Fraumeni syndrome. (21552135)
2011
8
Familial gastric cancer and Li-Fraumeni syndrome. (19674071)
2010
9
The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube. (19834951)
2010
10
Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. (20478780)
2010
11
p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome. (20028212)
2010
12
High frequency of de novo mutations in Li-Fraumeni syndrome. (19556618)
2009
13
Li-Fraumeni syndrome: the genetics and treatment considerations for the sarcoma and associated neoplasms. (19056046)
2009
14
A molecular approach for identifying individuals with Li-Fraumeni syndrome who have a limited family history. (19250386)
2009
15
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. (18511570)
2008
16
Psychological functioning in persons considering genetic counseling and testing for Li-Fraumeni syndrome. (18688785)
2008
17
Orbital rhabdomyosarcoma in Li-Fraumeni syndrome. (17420382)
2007
18
Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma. (16534790)
2007
19
Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype. (16597646)
2006
20
Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. (15695383)
2005
21
Li-Fraumeni syndrome: a p53 family affair. (15917654)
2005
22
Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome. (16284780)
2005
23
Familial gastric cancers with Li-Fraumeni Syndrome: a case repast. (15996045)
2005
24
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. (15607980)
2004
25
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. (12584563)
2003
26
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. (12885464)
2003
27
TP53, hChk2, and the Li-Fraumeni syndrome. (12710683)
2003
28
A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla. (12076704)
2002
29
The Li-Fraumeni syndrome. (11900879)
2002
30
Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations. (14564044)
2001
31
Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome. (14965603)
2001
32
Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. (11120338)
2000
33
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. (10922393)
2000
34
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. (10389970)
1999
35
Multiple synchronous lung cancers and atypical adenomatous hyperplasia in Li-Fraumeni syndrome. (9726049)
1998
36
Multiple primary cancers in families with Li-Fraumeni syndrome. (9554443)
1998
37
Telomerase activity during spontaneous immortalization of Li-Fraumeni syndrome skin fibroblasts. (9715272)
1998
38
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. (9343108)
1997
39
The Li-Fraumeni syndrome: an inherited susceptibility to cancer. (9302689)
1997
40
Li-Fraumeni syndrome in pediatric patients with soft tissue sarcoma or osteosarcoma. (9291635)
1997
41
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
42
The first documentation of Li-Fraumeni syndrome in Korea. (8527048)
1995
43
Li-Fraumeni syndrome. (7863100)
1994
44
Li-Fraumeni syndrome. (7734204)
1994
45
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
46
p53 and the Li-Fraumeni syndrome. (8500106)
1993
47
Infantile cutaneous rhabdomyosarcoma (Li-Fraumeni syndrome): cytological presentation of fine-needle aspirate biopsy, report of a case. (1468341)
1992
48
The Li-Fraumeni syndrome: from clinical epidemiology to molecular genetics. (1536134)
1992
49
Follow-up study of twenty-four families with Li-Fraumeni syndrome. (1933872)
1991
50
p53 germline mutations in Li-Fraumeni syndrome. (1683921)
1991

Variations for Li-Fraumeni Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Li-Fraumeni Syndrome:

65 (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

Clinvar genetic disease variations for Li-Fraumeni Syndrome:

1 (show all 23)
id Gene Name Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.742C> T (p.Arg248Trp)single nucleotide variantPathogenicrs121912651GRCh37Chr 17, 7577539: 7577539
2TP53NM_000546.5(TP53): c.772G> A (p.Glu258Lys)single nucleotide variantPathogenicrs121912652GRCh37Chr 17, 7577509: 7577509
3TP53NM_000546.5(TP53): c.733G> T (p.Gly245Cys)single nucleotide variantPathogenicrs28934575GRCh37Chr 17, 7577548: 7577548
4TP53NM_000546.5(TP53): c.755T> C (p.Leu252Pro)single nucleotide variantPathogenicrs121912653GRCh37Chr 17, 7577526: 7577526
5TP53NM_000546.5(TP53): c.734G> A (p.Gly245Asp)single nucleotide variantPathogenicrs121912656GRCh37Chr 17, 7577547: 7577547
6TP53NM_000546.5(TP53): c.743G> A (p.Arg248Gln)single nucleotide variantPathogenicrs11540652GRCh37Chr 17, 7577538: 7577538
7TP53NM_000546.5(TP53): c.398T> C (p.Met133Thr)single nucleotide variantPathogenicrs28934873GRCh37Chr 17, 7578532: 7578532
8TP53NM_000546.5(TP53): c.814G> T (p.Val272Leu)single nucleotide variantPathogenicrs121912657GRCh37Chr 17, 7577124: 7577124
9TP53TP53, 1-BP INS, 151CinsertionPathogenic
10TP53NM_000546.5(TP53): c.627_628delAA (p.Asn210Hisfs)deletionPathogenicGRCh37Chr 17, 7578221: 7578222
11TP53NM_000546.5(TP53): c.818G> A (p.Arg273His)single nucleotide variantPathogenicrs28934576GRCh37Chr 17, 7577120: 7577120
12TP53TP53, 1-BP DEL, CODON 257deletionPathogenic
13TP53NM_000546.5(TP53): c.524G> A (p.Arg175His)single nucleotide variantPathogenicrs28934578GRCh37Chr 17, 7578406: 7578406
14TP53NM_000546.5(TP53): c.1031T> C (p.Leu344Pro)single nucleotide variantPathogenicrs121912662GRCh37Chr 17, 7573996: 7573996
15TP53NM_000546.5(TP53): c.412G> C (p.Ala138Pro)single nucleotide variantPathogenicrs28934875GRCh37Chr 17, 7578518: 7578518
16TP53TP53, 1-BP DEL, CODON 178deletionPathogenic
17TP53NM_000546.5(TP53): c.875A> T (p.Lys292Ile)single nucleotide variantPathogenicrs121912663GRCh37Chr 17, 7577063: 7577063
18TP53TP53, 11-BP DEL/5-BP INSindelPathogenic
19TP53NM_000546.5(TP53): c.659A> C (p.Tyr220Ser)single nucleotide variantPathogenicrs121912666GRCh37Chr 17, 7578190: 7578190
20CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic, risk factor
21CHEK2NM_007194.3(CHEK2): c.470T> C (p.Ile157Thr)single nucleotide variantLikely pathogenic, Pathogenic, risk factorrs17879961GRCh37Chr 22, 29121087: 29121087
22CHEK2NM_007194.3(CHEK2): c.433C> T (p.Arg145Trp)single nucleotide variantLikely pathogenic, Pathogenicrs137853007GRCh37Chr 22, 29121242: 29121242
23CHEK2CHEK2, 1-BP DEL, 1422TdeletionPathogenic

Expression for genes affiliated with Li-Fraumeni Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 58SinoBiological, 54QIAGEN, 31KEGG, 55R&D Systems, 13EMD Millipore, 5Cell Signaling Technology
See all sources

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

(show top 50)    (show all 77)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9CHEK2, TP53
2
Show member pathways
9.7TP53, CDKN1A
3
Show member pathways
DNA damage Role of SUMO in p53 regulation61
9.5TP53, CHEK2, MDM2
4
Show member pathways
p53 pathway39
9.5MDM2, CHEK2, TP53
59.5CDKN2A, MDM2, TP53
69.5TP53, MDM2, CDKN2A
79.5MDM2, TP53, CDKN2A
8
Show member pathways
9.3CDKN2A, CDKN1A, TP53
99.3CDKN1A, MDM2, TP53
109.3TP53, MDM2, CDKN1A
11
Show member pathways
9.2MDM2, CDKN2A, CDKN1A
129.1CHEK2, BRCA1, TP53
139.0TP53, CHEK2, CDKN1A, CDKN2A
149.0MDM2, BRCA1, TP53
159.0CDKN1A, MDM2, TP53, CDKN2A
16
Show member pathways
9.0CDKN2A, CDKN1A, MDM2, TP53
17
Show member pathways
9.0MDM2, CDKN1A, CDKN2A, TP53
188.8TP53, BRCA1, CDKN1A
198.8PTEN, CDKN1A, MDM2, TP53
20
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
8.8CDKN1A, PTEN, MDM2, TP53
21
Show member pathways
8.7TP53, PTEN, MDM2, CDKN2A, CHEK2
22
Show member pathways
Cell cycle39
8.7CDKN2A, CHEK2, MDM2, TP53, CDKN1A
238.6MLH1, BRCA1, BRCA2
248.5CDKN2A, XPC, TP53, MDM2, CDKN1A
25
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation61
8.5CDKN2A, BRCA1, CHEK2, CDKN1A
26
Show member pathways
8.4TP53, CHEK2, BRCA1, BRCA2
278.4CDKN2A, CDKN1A, MDM2, TP53, PTEN
28
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
8.4PTEN, MDM2, CDKN1A, CDKN2A, TP53
298.4PTEN, CDKN1A, MDM2, CDKN2A, TP53
30
Show member pathways
8.3MDM2, TP53, BRCA2, CDKN2A, CDKN1A
31
Show member pathways
Signal transduction PTEN pathway61
8.3MDM2, CDKN1A, TP53, PTEN, MLH1
328.3MLH1, PTEN, TP53, MDM2, CDKN1A
338.2MDM2, PTEN, BRCA1, CDKN1A
34
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
8.2BRCA1, MDM2, CHEK2, TP53, PTEN
35
Show member pathways
ATM Signaling Pathway39
8.2TP53, MDM2, CHEK2, CDKN1A, BRCA1
368.2TP53, CHEK2, MDM2, CDKN1A, BRCA1
378.0MDM2, CDKN1A, PTEN, TP53, BRCA1
38
Show member pathways
7.8CDKN2A, CDKN1A, TP53, MDM2, CHEK2, BRCA1
39
Show member pathways
7.7TP53, CDKN1A, MDM2, CHEK2, BRCA1, PTEN
407.6TP53, BRCA1, MDM2, CDKN1A, CDKN2A, PTEN
417.6MLH1, TP53, BRCA2, BRCA1, CHEK2, XPC
427.6CHEK2, TP53, PTEN, BRCA1, BRCA2, MDM2
43
Show member pathways
7.6CDKN1A, MDM2, CHEK2, BRCA1, BRCA2, TP53
44
Show member pathways
7.5CDKN1A, MDM2, BRCA1, BRCA2, CDKN2A, TP53
457.4MLH1, TP53, MDM2, BRCA2, CDKN2A, PTEN
46
Show member pathways
7.3CHEK2, BRCA1, TP53, PTEN, MDM2, CDKN1A
47
Show member pathways
DNA damage response39
7.3CHEK2, BRCA1, CDKN2A, PTEN, TP53, MDM2
487.0PTEN, TP53, BRCA2, BRCA1, CHEK2, MDM2
49
Show member pathways
Signaling Pathways in Glioblastoma39
7.0PTEN, CDKN1A, TP53, BRCA2, BRCA1, MDM2
50
Show member pathways
6.3CDKN1A, MDM2, MLH1, TP53, BRCA2, BRCA1

Compounds for genes affiliated with Li-Fraumeni Syndrome

About this section
Sources:
46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 3BitterDB
See all sources

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

(show top 50)    (show all 127)
idCompoundScoreTop Affiliating Genes
1acnu469.5CDKN1A, CDKN2A, TP53
210-hydroxycamptothecin469.4CDKN1A, MDM2, TP53
3roscovitine469.2CDKN1A, CDKN2A, MDM2, TP53
4crcs469.2CDKN2A, MLH1, TP53, PTEN
5o6-methylguanine469.1CDKN2A, TP53, MLH1, BRCA2
6noxa469.1PTEN, TP53, CDKN1A, MDM2
7flavopiridol46 1210.1MDM2, CDKN2A, CDKN1A, TP53
8bpde469.1MDM2, BRCA1, TP53, CHEK2
9temozolomide46 1210.0TP53, MLH1, CDKN1A, CDKN2A, CHEK2
105-methylcytosine46 259.9BRCA1, TP53, MLH1, CDKN2A
11aphidicolin468.9BRCA1, CHEK2, CDKN1A, TP53
12irinotecan46 52 1210.9MLH1, TP53, MDM2, CDKN1A, CDKN2A
13arsenite46 259.7CDKN1A, TP53, CDKN2A, MDM2, PTEN
14leptomycin b46 629.7MDM2, BRCA1, TP53, CDKN1A
15oxaliplatin46 52 1210.6TP53, BRCA1, CDKN1A, MLH1
16carboplatin46 52 1210.5MDM2, BRCA1, TP53, MLH1
17benzo(a)pyrene468.4TP53, MDM2, CDKN1A, BRCA1, XPC
18bortezomib46 52 1210.3CDKN1A, BRCA1, TP53, PTEN
19methylmethanesulfonate468.2CDKN1A, BRCA2, BRCA1, MDM2, TP53
20adpribose468.2MDM2, CDKN1A, TP53, BRCA2, BRCA1
21resveratrol46 62 25 1211.2CDKN1A, BRCA1, TP53, BRCA2, MDM2
22indole-3-carbinol468.1BRCA1, BRCA2, TP53, PTEN, CDKN1A
23thymidylate468.1MDM2, CDKN2A, CDKN1A, BRCA1, TP53, MLH1
24agar468.0BRCA1, MDM2, CDKN1A, PTEN, CDKN2A
25hydroxyurea46 52 1210.0CDKN2A, CDKN1A, CHEK2, BRCA1, TP53, BRCA2
26mg 13246 629.0CDKN1A, BRCA1, PTEN, TP53, MDM2, CDKN2A
27gemcitabine46 52 1210.0TP53, MLH1, BRCA1, CDKN1A, CHEK2, PTEN
28vincristine46 52 129.9PTEN, BRCA2, BRCA1, MDM2, CDKN2A, TP53
29docetaxel46 52 62 1210.9CDKN2A, CDKN1A, MDM2, BRCA1, BRCA2, TP53
30thymidine46 258.7MLH1, CDKN1A, MDM2, BRCA2, TP53, BRCA1
31adriamycin467.7TP53, BRCA2, CHEK2, MDM2, CDKN1A, CDKN2A
32tamoxifen46 52 30 1210.6CDKN1A, BRCA1, PTEN, TP53, BRCA2
335-aza-2deoxycytidine467.6TP53, PTEN, MDM2, CDKN1A, CDKN2A, MLH1
345fluorouracil467.6CDKN2A, TP53, PTEN, MLH1, BRCA1, MDM2
35vegf467.5BRCA1, MDM2, MLH1, CDKN2A, TP53, PTEN
36oxygen46 258.4MDM2, CDKN1A, CDKN2A, MLH1, PTEN, BRCA1
37genistein46 30 62 3 25 1212.4MDM2, CDKN2A, CHEK2, BRCA1, CDKN1A, BRCA2
38cycloheximide467.4BRCA1, BRCA2, MDM2, TP53, CDKN2A, PTEN
39doxorubicin46 52 129.3TP53, MDM2, CDKN1A, CHEK2, BRCA1, PTEN
40camptothecin46 62 129.2CDKN2A, MLH1, CDKN1A, MDM2, TP53, BRCA2
41steroid467.0MDM2, MLH1, PTEN, CDKN2A, BRCA1, BRCA2
42etoposide46 52 62 1210.0CHEK2, MDM2, TP53, PTEN, MLH1, CDKN1A
43retinoic acid46 258.0PTEN, MLH1, BRCA2, CHEK2, BRCA1, CDKN2A
44paclitaxel46 52 129.0MDM2, CDKN1A, BRCA1, BRCA2, TP53, MLH1
45paraffin467.0CDKN2A, CDKN1A, MDM2, BRCA1, TP53, PTEN
46progesterone46 30 62 25 1210.9MDM2, TP53, BRCA2, BRCA1, CDKN1A, CDKN2A
47h2o2466.9BRCA2, MLH1, PTEN, MDM2, CDKN1A, CDKN2A
48estrogen466.9PTEN, MLH1, BRCA1, CDKN2A, CDKN1A, MDM2
49oligonucleotide466.7CDKN1A, PTEN, TP53, BRCA2, BRCA1, CHEK2
50cisplatin46 52 62 129.3MLH1, PTEN, CDKN1A, BRCA2, BRCA1, CHEK2

GO Terms for genes affiliated with Li-Fraumeni Syndrome

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:0166049.5TP53, MDM2, CDKN2A
2PML bodyGO:0166059.1PTEN, TP53, CHEK2
3protein complexGO:0432348.1TP53, BRCA2, BRCA1, MDM2, CDKN2A
4cytoplasmGO:0057377.1CDKN2A, MDM2, XPC, BRCA1, BRCA2, TP53
5nucleolusGO:0057307.1MLH1, PTEN, TP53, BRCA2, XPC, MDM2
6nucleoplasmGO:0056546.9CDKN2A, TP53, BRCA2, BRCA1, CHEK2, XPC
7nucleusGO:0056346.0MLH1, PTEN, TP53, BRCA2, BRCA1, XPC

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein catabolic processGO:04217610.1MDM2, CHEK2
2protein destabilizationGO:03164810.0MDM2, CDKN2A
3mitotic cell cycle arrestGO:07185010.0CDKN1A, TP53
4replicative senescenceGO:09039910.0TP53, CHEK2, CDKN2A
5cellular senescenceGO:0903989.9CDKN1A, CDKN2A
6negative regulation of cyclin-dependent protein serine/threonine kinase activityGO:0457369.9CDKN1A, CDKN2A
7response to X-rayGO:0101659.9TP53, BRCA2
8cellular response to ionizing radiationGO:0714799.8TP53, CDKN1A
9negative regulation of phosphorylationGO:0423269.8CDKN1A, CDKN2A
10response to arsenic-containing substanceGO:0466859.8CDKN1A, PTEN
11positive regulation of reactive oxygen species metabolic processGO:20003799.7CDKN1A, TP53
12response to antibioticGO:0466779.7TP53, MDM2
13Ras protein signal transductionGO:0072659.7CDKN2A, CDKN1A, TP53
14DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:0069779.7TP53, MDM2, CDKN1A
15cell agingGO:0075699.7TP53, BRCA2
16protein stabilizationGO:0508219.7PTEN, CHEK2, CDKN2A
17response to gamma radiationGO:0103329.7CHEK2, BRCA2, TP53
18negative regulation of cell growthGO:0303089.7CDKN2A, CDKN1A, TP53
19cell cycle arrestGO:0070509.7CDKN2A, CDKN1A, TP53
20positive regulation of mitotic cell cycleGO:0459319.6BRCA2, MDM2
21regulation of protein stabilityGO:0316479.6CDKN2A, PTEN
22nucleotide-excision repairGO:0062899.5XPC, BRCA2, TP53
23intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:0427719.5TP53, BRCA2, CDKN1A
24positive regulation of cell cycle arrestGO:0711589.4TP53, BRCA1, CDKN2A
25phosphatidylinositol-mediated signalingGO:0480159.4PTEN, MDM2, CDKN1A
26fibroblast growth factor receptor signaling pathwayGO:0085439.4CDKN1A, MDM2, PTEN
27Fc-epsilon receptor signaling pathwayGO:0380959.3CDKN1A, MDM2, PTEN
28intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.3CHEK2, BRCA1, MLH1
29epidermal growth factor receptor signaling pathwayGO:0071739.3CDKN1A, MDM2, PTEN
30negative regulation of cell proliferationGO:0082859.2PTEN, TP53, CDKN1A, CDKN2A
31DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.2BRCA1, BRCA2, TP53
32negative regulation of apoptotic processGO:0430669.1PTEN, TP53, MDM2, CDKN1A
33response to drugGO:0424939.0PTEN, XPC, MDM2, CDKN1A
34negative regulation of transcription, DNA-templatedGO:0458929.0TP53, BRCA1, MDM2, CDKN2A
35cellular response to DNA damage stimulusGO:0069749.0CDKN1A, CHEK2, BRCA1, TP53
36double-strand break repairGO:0063028.9CHEK2, BRCA1, BRCA2, TP53
37neurotrophin TRK receptor signaling pathwayGO:0480118.8CDKN1A, MDM2, PTEN
38DNA repairGO:0062818.6XPC, BRCA1, BRCA2
39positive regulation of transcription, DNA-templatedGO:0458938.5TP53, BRCA2, BRCA1, CHEK2, CDKN2A

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:0036849.8XPC, TP53
2MDM2/MDM4 family protein bindingGO:0973719.7CDKN2A, TP53
3p53 bindingGO:0020399.6CDKN2A, MDM2, TP53
4cyclin-dependent protein serine/threonine kinase inhibitor activityGO:0048619.3CDKN2A, CDKN1A
5protein kinase bindingGO:0199019.1PTEN, TP53, CHEK2, CDKN2A
6single-stranded DNA bindingGO:0036979.0MLH1, BRCA2, XPC
7ubiquitin protein ligase bindingGO:0316258.9TP53, BRCA1, CHEK2, MDM2
8enzyme bindingGO:0198998.6PTEN, TP53, BRCA1, MDM2
9protein bindingGO:0055156.0CDKN2A, MLH1, PTEN, TP53, BRCA2, BRCA1

Products for genes affiliated with Li-Fraumeni Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Li-Fraumeni Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet