LFS
MCID: LFR001
MIFTS: 88

Li-Fraumeni Syndrome (LFS) malady

Genetic diseases, Rare diseases, Reproductive diseases, Neuronal diseases, Endocrine diseases, Cancer diseases categories
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Summaries for Li-Fraumeni Syndrome

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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 based summary: Li-Fraumeni Syndrome, also known as sbla syndrome, is related to breast cancer and meningioma, and has symptoms including neoplasms/tumors, colon neoplasm/tumor/carcinoma/cancer and pancreatic/pancreas neoplasm/tumor/carcinoma/cancer. 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 ifosfamide and mitoxantrone 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: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:65 Li?Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. Named after Frederick... more...

Descriptions 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, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 33MedlinePlus, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Li-Fraumeni Syndrome, Aliases & Descriptions:

Name: Li-Fraumeni Syndrome 8 9 65 19 42 20 22 21 46 10 44 48 62
Sbla Syndrome 65 19 42 21
Sarcoma Family Syndrome of Li and Fraumeni 65 42 21
Breast Diseases 44 33 62
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 65 21
Breast Disease 10 62
Sarcoma 19 62
 
Lfs 65 21
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 8
Leukemia,adrenal Gland 19
Li-Fraumeni Syndrome 1 62
Breast 19
Lfs1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
li-fraumeni syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:3012
MeSH34 D016864
NCIt39 C3476
SNOMED-CT57 428850001
MESH via Orphanet35 D016864
ICD10 via Orphanet26 D48.9
UMLS via Orphanet63 C0085390

Related Diseases for Li-Fraumeni Syndrome

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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 891)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.3BRCA2, BRCA1
2meningioma31.0PTEN
3malignant peripheral nerve sheath tumor30.9CDKN2A, MDM2
4sarcoma30.8CHEK2, MLH1, MDM2, BRCA2, TP53
5liposarcoma30.8MDM2, TP53
6leiomyosarcoma30.7TP53, MDM2
7lynch syndrome30.7BRCA2, BRCA1
8gliosarcoma30.6PTEN
9lung adenocarcinoma30.6CDKN2A, TP53, CDKN1A
10osteosarcoma30.5TP53, CDKN1A, CDKN2A, MDM2, CHEK2
11bilateral breast cancer30.5BRCA1, CHEK2, BRCA2
12lung cancer30.5CDKN1A, CHEK2, TP53, MDM2
13neurofibromatosis30.4BRCA2, MLH1
14ependymoma30.4MDM2
15giant cell glioblastoma30.3MDM2, PTEN
16turcot syndrome30.3MLH1, PTEN
17oligodendroglioma30.3CDKN2A, PTEN
18hodgkin's lymphoma30.2BRCA1, BRCA2, MDM2
19ductal carcinoma in situ30.1TP53, BRCA2, BRCA1
20familial adenomatous polyposis30.0BRCA1, TP53, MLH1
21b-cell lymphomas30.0TP53, MDM2, CDKN1A, CDKN2A
22lipoma30.0MDM2, PTEN
23werner syndrome29.9BRCA1, MLH1
24cervical cancer29.8MDM2, CDKN1A, CDKN2A, TP53
25dysgerminoma29.8BRCA2, BRCA1
26cervical adenocarcinoma29.8CDKN2A, CDKN1A
27gynecomastia29.8BRCA2, BRCA1
28glioblastoma29.7CDKN2A, PTEN, MLH1, CDKN1A, MDM2, CHEK2
29xeroderma pigmentosum29.7BRCA1, TP53, XPC
30adenoma29.7CDKN2A, CDKN1A, BRCA1, TP53, MLH1
31keratoacanthoma29.7CDKN1A, MLH1
32colorectal cancer29.7CDKN2A, CDKN1A, MDM2, TP53, PTEN, MLH1
33follicular thyroid carcinoma29.7PTEN, CDKN1A
34endometrial carcinoma29.7PTEN, MLH1, CDKN2A, TP53
35papillary thyroid carcinoma29.6PTEN, CDKN1A
36papilloma29.6CDKN1A, TP53, CDKN2A
37ataxia telangiectasia29.5CHEK2, CDKN1A, BRCA2, BRCA1, TP53, MDM2
38retinoblastoma29.5CDKN1A, CDKN2A, MDM2, BRCA1, BRCA2, TP53
39bladder carcinoma29.4CDKN2A, CDKN1A, MDM2, TP53
40liver cancer29.4XPC, CDKN2A, BRCA2, TP53, PTEN, CDKN1A
41glioblastoma multiforme29.4CDKN2A, CDKN1A, MDM2, PTEN, TP53
42prostate cancer29.4CDKN1A, PTEN, CHEK2
43leukemia29.3MLH1, TP53, BRCA2, MDM2, CDKN1A, CDKN2A
44breast cancer, invasive ductal29.3CDKN1A, BRCA1, TP53, MDM2
45ovarian cancer29.2MDM2, TP53, BRCA2, PTEN, BRCA1, CDKN1A
46melanoma29.2CDKN2A, CDKN1A, MDM2, TP53, XPC, BRCA2
47stomach cancer29.2TP53, CDKN1A, CHEK2, CDKN2A, MLH1, PTEN
48astrocytoma29.1MDM2, XPC, BRCA1, TP53, PTEN, MLH1
49adenocarcinoma28.9CDKN1A, CHEK2, MDM2, TP53, BRCA2, BRCA1
50kaposi's sarcoma11.3

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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Symptoms by clinical synopsis from OMIM:

151623

Clinical features from OMIM:

151623,609265,609266

Symptoms:

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

HPO human phenotypes related to Li-Fraumeni Syndrome:

(show all 29)
id Description Frequency HPO Source Accession
1 acute leukemia hallmark (90%) HP:0002488
2 lymphoma hallmark (90%) HP:0002665
3 neoplasm of the pancreas hallmark (90%) HP:0002894
4 neoplasm of the nervous system hallmark (90%) HP:0004375
5 neoplasm of the skin hallmark (90%) HP:0008069
6 neoplasm of the skeletal system hallmark (90%) HP:0010622
7 neoplasm of the breast hallmark (90%) HP:0100013
8 sarcoma hallmark (90%) HP:0100242
9 neoplasm of the colon hallmark (90%) HP:0100273
10 neoplasm of the adrenal cortex hallmark (90%) HP:0100641
11 melanoma occasional (7.5%) HP:0002861
12 neoplasm of the lung occasional (7.5%) HP:0100526
13 autosomal dominant inheritance HP:0000006
14 acute leukemia HP:0002488
15 nephroblastoma (wilms tumor) HP:0002667
16 osteosarcoma HP:0002669
17 neoplasm of the pancreas HP:0002894
18 breast carcinoma HP:0003002
19 colon cancer HP:0003003
20 adrenocortical carcinoma HP:0006744
21 prostate cancer HP:0012125
22 lung adenocarcinoma HP:0030078
23 prostate neoplasm HP:0100787
24 autosomal dominant inheritance HP:0000006
25 meningioma HP:0002858
26 breast carcinoma HP:0003002
27 glioma HP:0009733
28 stomach cancer HP:0012126
29 sarcoma HP:0100242

Drugs & Therapeutics for Li-Fraumeni Syndrome

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Drug clinical trials:

Search ClinicalTrials for Li-Fraumeni Syndrome

Search NIH Clinical Center for Li-Fraumeni Syndrome

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Li-Fraumeni Syndrome

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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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MalaCards organs/tissues related to Li-Fraumeni Syndrome:

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

Animal Models for Li-Fraumeni Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

36 (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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Articles related to Li-Fraumeni Syndrome:

(show top 50)    (show all 206)
idTitleAuthorsYear
1
Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome. (25318593)
2014
2
Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers. (24636404)
2014
3
Li-Fraumeni syndrome: cancer risk assessment and clinical management. (24642672)
2014
4
Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. (24835218)
2014
5
Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome. (24299451)
2013
6
Li-Fraumeni syndrome. (24367873)
2013
7
Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions. (23355100)
2013
8
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. (22939227)
2012
9
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. (21601526)
2011
10
Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome. (21464421)
2011
11
Gastric cancer in individuals with Li-Fraumeni syndrome. (21552135)
2011
12
Familial gastric cancer and Li-Fraumeni syndrome. (19674071)
2010
13
The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube. (19834951)
2010
14
Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. (20478780)
2010
15
High frequency of de novo mutations in Li-Fraumeni syndrome. (19556618)
2009
16
Li-Fraumeni syndrome: the genetics and treatment considerations for the sarcoma and associated neoplasms. (19056046)
2009
17
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. (18511570)
2008
18
Orbital rhabdomyosarcoma in Li-Fraumeni syndrome. (17420382)
2007
19
Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma. (16534790)
2007
20
Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype. (16597646)
2006
21
Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. (15695383)
2005
22
Li-Fraumeni syndrome: a p53 family affair. (15917654)
2005
23
Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome. (16284780)
2005
24
Familial gastric cancers with Li-Fraumeni Syndrome: a case repast. (15996045)
2005
25
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. (15607980)
2004
26
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. (12584563)
2003
27
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. (12885464)
2003
28
TP53, hChk2, and the Li-Fraumeni syndrome. (12710683)
2003
29
A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla. (12076704)
2002
30
The Li-Fraumeni syndrome. (11900879)
2002
31
Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations. (14564044)
2001
32
Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome. (14965603)
2001
33
Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. (11120338)
2000
34
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. (10922393)
2000
35
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. (10389970)
1999
36
Multiple synchronous lung cancers and atypical adenomatous hyperplasia in Li-Fraumeni syndrome. (9726049)
1998
37
Multiple primary cancers in families with Li-Fraumeni syndrome. (9554443)
1998
38
Telomerase activity during spontaneous immortalization of Li-Fraumeni syndrome skin fibroblasts. (9715272)
1998
39
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. (9343108)
1997
40
The Li-Fraumeni syndrome: an inherited susceptibility to cancer. (9302689)
1997
41
Li-Fraumeni syndrome in pediatric patients with soft tissue sarcoma or osteosarcoma. (9291635)
1997
42
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
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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UniProtKB/Swiss-Prot genetic disease variations for Li-Fraumeni Syndrome:

64 (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:

6 (show all 26)
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
20TP53NM_000546.5(TP53): c.586C> T (p.Arg196Ter)single nucleotide variantPathogenicrs397516435GRCh37Chr 17, 7578263: 7578263
21TP53NM_000546.5(TP53): c.637C> T (p.Arg213Ter)single nucleotide variantPathogenicrs397516436GRCh37Chr 17, 7578212: 7578212
22TP53NM_000546.5(TP53): c.817C> T (p.Arg273Cys)single nucleotide variantLikely pathogenicrs121913343GRCh37Chr 17, 7577121: 7577121
23CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic
24CHEK2NM_007194.3(CHEK2): c.470T> C (p.Ile157Thr)single nucleotide variantLikely pathogenic, Pathogenicrs17879961GRCh37Chr 22, 29121087: 29121087
25CHEK2NM_007194.3(CHEK2): c.433C> T (p.Arg145Trp)single nucleotide variantLikely pathogenicrs137853007GRCh37Chr 22, 29121242: 29121242
26CHEK2CHEK2, 1-BP DEL, 1422TdeletionPathogenic

Expression for genes affiliated with Li-Fraumeni Syndrome

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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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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 regulation60
9.5TP53, CHEK2, MDM2
4
Show member pathways
p53 pathway37
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 pathway60
Signal transduction AKT signaling60
8.8CDKN1A, PTEN, MDM2, TP53
21
Show member pathways
8.7TP53, PTEN, MDM2, CDKN2A, CHEK2
22
Show member pathways
Cell cycle37
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 regulation60
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)37
Wnt Signaling Pathway and Pluripotency37
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 pathway60
8.3MDM2, CDKN1A, TP53, PTEN, MLH1
328.3MLH1, PTEN, TP53, MDM2, CDKN1A
338.2MDM2, PTEN, BRCA1, CDKN1A
34
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
8.2BRCA1, MDM2, CHEK2, TP53, PTEN
35
Show member pathways
ATM Signaling Pathway37
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 response37
7.3CHEK2, BRCA1, CDKN2A, PTEN, TP53, MDM2
487.0PTEN, TP53, BRCA2, BRCA1, CHEK2, MDM2
49
Show member pathways
Signaling Pathways in Glioblastoma37
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

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

(show top 50)    (show all 127)
idCompoundScoreTop Affiliating Genes
1acnu449.5CDKN1A, CDKN2A, TP53
210-hydroxycamptothecin449.4CDKN1A, MDM2, TP53
3roscovitine449.2CDKN1A, CDKN2A, MDM2, TP53
4crcs449.2CDKN2A, MLH1, TP53, PTEN
5o6-methylguanine449.1CDKN2A, TP53, MLH1, BRCA2
6noxa449.1PTEN, TP53, CDKN1A, MDM2
7flavopiridol44 1110.1MDM2, CDKN2A, CDKN1A, TP53
8bpde449.1MDM2, BRCA1, TP53, CHEK2
9temozolomide44 1110.0TP53, MLH1, CDKN1A, CDKN2A, CHEK2
105-methylcytosine44 249.9BRCA1, TP53, MLH1, CDKN2A
11aphidicolin448.9BRCA1, CHEK2, CDKN1A, TP53
12irinotecan44 50 1110.9MLH1, TP53, MDM2, CDKN1A, CDKN2A
13arsenite44 249.7CDKN1A, TP53, CDKN2A, MDM2, PTEN
14leptomycin b44 619.7MDM2, BRCA1, TP53, CDKN1A
15oxaliplatin44 50 1110.6TP53, BRCA1, CDKN1A, MLH1
16carboplatin44 50 1110.5MDM2, BRCA1, TP53, MLH1
17benzo(a)pyrene448.4TP53, MDM2, CDKN1A, BRCA1, XPC
18bortezomib44 50 1110.3CDKN1A, BRCA1, TP53, PTEN
19methylmethanesulfonate448.2CDKN1A, BRCA2, BRCA1, MDM2, TP53
20adpribose448.2MDM2, CDKN1A, TP53, BRCA2, BRCA1
21resveratrol44 61 24 1111.2CDKN1A, BRCA1, TP53, BRCA2, MDM2
22indole-3-carbinol448.1BRCA1, BRCA2, TP53, PTEN, CDKN1A
23thymidylate448.1MDM2, CDKN2A, CDKN1A, BRCA1, TP53, MLH1
24agar448.0BRCA1, MDM2, CDKN1A, PTEN, CDKN2A
25hydroxyurea44 50 1110.0CDKN2A, CDKN1A, CHEK2, BRCA1, TP53, BRCA2
26mg 13244 619.0CDKN1A, BRCA1, PTEN, TP53, MDM2, CDKN2A
27gemcitabine44 50 1110.0TP53, MLH1, BRCA1, CDKN1A, CHEK2, PTEN
28vincristine44 50 119.9PTEN, BRCA2, BRCA1, MDM2, CDKN2A, TP53
29docetaxel44 50 61 1110.9CDKN2A, CDKN1A, MDM2, BRCA1, BRCA2, TP53
30thymidine44 248.7MLH1, CDKN1A, MDM2, BRCA2, TP53, BRCA1
31adriamycin447.7TP53, BRCA2, CHEK2, MDM2, CDKN1A, CDKN2A
32tamoxifen44 50 28 1110.6CDKN1A, BRCA1, PTEN, TP53, BRCA2
335-aza-2deoxycytidine447.6TP53, PTEN, MDM2, CDKN1A, CDKN2A, MLH1
345fluorouracil447.6CDKN2A, TP53, PTEN, MLH1, BRCA1, MDM2
35vegf447.5BRCA1, MDM2, MLH1, CDKN2A, TP53, PTEN
36oxygen44 248.4MDM2, CDKN1A, CDKN2A, MLH1, PTEN, BRCA1
37genistein44 28 61 2 24 1112.4MDM2, CDKN2A, CHEK2, BRCA1, CDKN1A, BRCA2
38cycloheximide447.4BRCA1, BRCA2, MDM2, TP53, CDKN2A, PTEN
39doxorubicin44 50 119.3TP53, MDM2, CDKN1A, CHEK2, BRCA1, PTEN
40camptothecin44 61 119.2CDKN2A, MLH1, CDKN1A, MDM2, TP53, BRCA2
41steroid447.0MDM2, MLH1, PTEN, CDKN2A, BRCA1, BRCA2
42etoposide44 50 61 1110.0CHEK2, MDM2, TP53, PTEN, MLH1, CDKN1A
43retinoic acid44 248.0PTEN, MLH1, BRCA2, CHEK2, BRCA1, CDKN2A
44paclitaxel44 50 119.0MDM2, CDKN1A, BRCA1, BRCA2, TP53, MLH1
45paraffin447.0CDKN2A, CDKN1A, MDM2, BRCA1, TP53, PTEN
46progesterone44 28 61 24 1110.9MDM2, TP53, BRCA2, BRCA1, CDKN1A, CDKN2A
47h2o2446.9BRCA2, MLH1, PTEN, MDM2, CDKN1A, CDKN2A
48estrogen446.9PTEN, MLH1, BRCA1, CDKN2A, CDKN1A, MDM2
49oligonucleotide446.7CDKN1A, PTEN, TP53, BRCA2, BRCA1, CHEK2
50cisplatin44 50 61 119.3MLH1, PTEN, CDKN1A, BRCA2, BRCA1, CHEK2

GO Terms for genes affiliated with Li-Fraumeni Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet