MCID: LFR001
MIFTS: 81

Li-Fraumeni Syndrome malady

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

Aliases & Classifications for Li-Fraumeni Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 38NCIt, 55SNOMED-CT, 27ICD9CM, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Li-Fraumeni Syndrome, Aliases & Descriptions:

Name: Li-Fraumeni Syndrome 45 9 10 63 19 41 20 21 11 43 47 22 60
Sbla Syndrome 9 63 19 41 21
Sarcoma Family Syndrome of Li and Fraumeni 63 41 21
Breast Diseases 43 32 60
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 63 21
Li-Fraumeni Syndrome 1 22 60
Li-Fraumeni Syndrome 2 22 60
Sarcoma 19 60
 
Lfs 63 21
Sarcoma, Breast, Leukaemia and Adrenal Gland Syndrome 9
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 9
Leukemia,adrenal Gland 19
Sarcoma - Category 60
Breast 19
Lfs1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
li-fraumeni syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (United States); Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology9 DOID:3012
NCIt38 C3476
ICD9CM27 758.3
MeSH33 D016864
SNOMED-CT55 428850001
Orphanet47 524
MESH via Orphanet34 D016864
ICD10 via Orphanet26 D48.9
UMLS via Orphanet61 C0085390

Summaries for Li-Fraumeni Syndrome

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OMIM:45 Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is... (151623) more...

MalaCards based summary: Li-Fraumeni Syndrome, also known as sbla syndrome, is related to breast cancer and malignant peripheral nerve sheath tumor, and has symptoms including acute leukemia, lymphoma and neoplasm of the pancreas. 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 mitoxantrone and mitoxantrone hydrochloride 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.

Disease Ontology:9 An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

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:41 Li-fraumeni syndrome (lfs) is an inherited condition that is characterized by an increased risk for certain types of cancer. affected people often develop cancer at an earlier age than expected and may be diagnosed with more than one cancer during their lifetime. lfs is primarily associated with sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, leukemia and adrenocortical carcinoma; however, many other types of cancer have been reported in people with this condition. it is caused by changes (mutations) in the tp53 gene and is inherited in an autosomal dominant manner. management may include high risk cancer screening and/or prophylactic surgeries. last updated: 3/10/2015

MedlinePlus:32 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

Wikipedia:63 Li?Fraumeni syndrome is a rare cancer predisposition hereditary disorder characterized as autosomal... more...

Description from OMIM:45 609265

GeneReviews summary for li-fraumeni

Related Diseases for Li-Fraumeni Syndrome

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Diseases in the Li-Fraumeni Syndrome family:

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

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

(show top 50)    (show all 871)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.2BRCA2, BRCA1
2malignant peripheral nerve sheath tumor30.9CDKN2A, MDM2
3sarcoma30.9CHEK2, MLH1, MDM2, BRCA2, TP53
4lynch syndrome30.9BRCA2, BRCA1
5liposarcoma30.8MDM2, TP53
6leiomyosarcoma30.7TP53, MDM2
7gliosarcoma30.6PTEN
8bilateral breast cancer30.5BRCA1, CHEK2, BRCA2
9lung cancer30.5CDKN1A, CHEK2, TP53, MDM2
10ependymoma30.4MDM2
11neurofibromatosis30.4BRCA2, MLH1
12hodgkin lymphoma30.3BRCA1, BRCA2, MDM2
13giant cell glioblastoma30.3MDM2, PTEN
14oligodendroglioma30.3CDKN2A, PTEN
15colorectal cancer30.2CDKN1A, MLH1, TP53, CHEK2
16ductal carcinoma in situ30.1TP53, BRCA2, BRCA1
17adenomatous polyposis coli30.0BRCA1, TP53, MLH1
18b-cell lymphomas30.0TP53, MDM2, CDKN1A, CDKN2A
19werner syndrome30.0BRCA1, MLH1
20lipoma30.0MDM2, PTEN
21nasopharyngeal carcinoma29.9TP53, MDM2, CDKN2A
22thyroid cancer29.9CDKN1A, PTEN, TP53
23osteosarcoma, somatic29.9TP53, CDKN1A, CDKN2A, MDM2, CHEK2
24glioblastoma29.9CDKN2A, PTEN, MLH1, CDKN1A, MDM2, CHEK2
25peutz-jeghers syndrome29.8BRCA2, PTEN
26cervical squamous cell carcinoma29.8CDKN1A, CDKN2A, MLH1
27dysgerminoma29.8BRCA2, BRCA1
28cervical adenocarcinoma29.8CDKN2A, CDKN1A
29gynecomastia29.8BRCA2, BRCA1
30keratoacanthoma29.7CDKN1A, MLH1
31adenoma29.7CDKN2A, CDKN1A, BRCA1, TP53, MLH1
32papilloma29.6CDKN1A, TP53, CDKN2A
33ataxia-telangiectasia29.5CHEK2, CDKN1A, BRCA2, BRCA1, TP53, MDM2
34retinoblastoma29.5CDKN1A, CDKN2A, MDM2, BRCA1, BRCA2, TP53
35glioblastoma multiforme29.4CDKN2A, CDKN1A, MDM2, PTEN, TP53
36prostate cancer29.4CDKN1A, PTEN, CHEK2
37leukemia29.3MLH1, TP53, BRCA2, MDM2, CDKN1A, CDKN2A
38melanoma29.2CDKN2A, CDKN1A, MDM2, TP53, XPC, BRCA2
39stomach cancer29.1TP53, CDKN1A, CHEK2, CDKN2A, MLH1, PTEN
40astrocytoma29.1MDM2, XPC, BRCA1, TP53, PTEN, MLH1
41adenocarcinoma29.0CDKN1A, CHEK2, MDM2, TP53, BRCA2, BRCA1
42gastric cancer, somatic29.0PTEN, TP53, BRCA2, MLH1, CDKN1A, CHEK2
43breast disease11.2
44endometrial stromal sarcoma11.0
45epithelioid sarcoma11.0
46alveolar soft-part sarcoma11.0
47clear cell sarcoma11.0
48kaposi sarcoma11.0
49ewing sarcoma11.0
50myeloid sarcoma10.9

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

Symptoms:

 47 (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 27)
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 meningioma HP:0002858
25 glioma HP:0009733
26 stomach cancer HP:0012126
27 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 UMLS60/NDF-RT39:

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
2 Li-Fraumeni Syndrome 122
3 Li-Fraumeni Syndrome 222

Anatomical Context for Li-Fraumeni Syndrome

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MalaCards organs/tissues related to Li-Fraumeni Syndrome:

31
Breast, Adrenal gland, Brain, Skin, Bone, Lung, Colon, Pancreas, Prostate, Testes, Cortex, Adrenal cortex, Liver, Myeloid

Animal Models for Li-Fraumeni Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

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

Publications for Li-Fraumeni Syndrome

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Articles related to Li-Fraumeni Syndrome:

(show top 50)    (show all 213)
idTitleAuthorsYear
1
(18)F-FDG PET-CT for Surveillance of Brazilian Patients with Li-Fraumeni Syndrome. (25745605)
2015
2
A functional variant in miR-605 modifies the age of onset in Li-Fraumeni syndrome. (25683625)
2015
3
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. (25787918)
2015
4
Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome. (25318593)
2014
5
Li-Fraumeni syndrome: a case report. (25639008)
2014
6
Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers. (24636404)
2014
7
Li-Fraumeni syndrome: cancer risk assessment and clinical management. (24642672)
2014
8
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
9
Atypical fibroxanthoma arising in a young patient with Li-Fraumeni syndrome. (24299451)
2013
10
Li-Fraumeni syndrome. (24367873)
2013
11
Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions. (23355100)
2013
12
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. (22939227)
2012
13
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. (21601526)
2011
14
Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome. (21464421)
2011
15
Gastric cancer in individuals with Li-Fraumeni syndrome. (21552135)
2011
16
Familial gastric cancer and Li-Fraumeni syndrome. (19674071)
2010
17
The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube. (19834951)
2010
18
High frequency of de novo mutations in Li-Fraumeni syndrome. (19556618)
2009
19
Li-Fraumeni syndrome: the genetics and treatment considerations for the sarcoma and associated neoplasms. (19056046)
2009
20
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. (18511570)
2008
21
Orbital rhabdomyosarcoma in Li-Fraumeni syndrome. (17420382)
2007
22
Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma. (16534790)
2007
23
Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype. (16597646)
2006
24
Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. (15695383)
2005
25
Li-Fraumeni syndrome: a p53 family affair. (15917654)
2005
26
Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome. (16284780)
2005
27
Familial gastric cancers with Li-Fraumeni Syndrome: a case repast. (15996045)
2005
28
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome. (15607980)
2004
29
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. (12584563)
2003
30
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. (12885464)
2003
31
A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla. (12076704)
2002
32
The Li-Fraumeni syndrome. (11900879)
2002
33
Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations. (14564044)
2001
34
Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome. (14965603)
2001
35
Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. (11120338)
2000
36
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. (10922393)
2000
37
Multiple synchronous lung cancers and atypical adenomatous hyperplasia in Li-Fraumeni syndrome. (9726049)
1998
38
Multiple primary cancers in families with Li-Fraumeni syndrome. (9554443)
1998
39
Telomerase activity during spontaneous immortalization of Li-Fraumeni syndrome skin fibroblasts. (9715272)
1998
40
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. (9343108)
1997
41
The Li-Fraumeni syndrome: an inherited susceptibility to cancer. (9302689)
1997
42
Li-Fraumeni syndrome in pediatric patients with soft tissue sarcoma or osteosarcoma. (9291635)
1997
43
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
44
Li-Fraumeni syndrome. (7863100)
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:

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

Clinvar genetic disease variations for Li-Fraumeni Syndrome:

6 (show all 26)
id Gene Variation 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 pathogenic, Pathogenicrs121913343GRCh37Chr 17, 7577121: 7577121
23CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic, risk factor
24CHEK2NM_007194.3(CHEK2): c.470T> C (p.Ile157Thr)single nucleotide variantLikely pathogenic, Pathogenic, risk factorrs17879961GRCh37Chr 22, 29121087: 29121087
25CHEK2NM_007194.3(CHEK2): c.433C> T (p.Arg145Trp)single nucleotide variantLikely pathogenic, Pathogenicrs137853007GRCh37Chr 22, 29121242: 29121242
26CHEK2CHEK2, 1-BP DEL, 1422TdeletionPathogenic

Cosmic variations for Li-Fraumeni Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
110813TP53soft tissue,striated muscle,rhabdomyosarcoma,NS3
210670TP53soft tissue,striated muscle,rhabdomyosarcoma,NS3
310660TP53soft tissue,striated muscle,rhabdomyosarcoma,NS3
4521KRASsoft tissue,striated muscle,rhabdomyosarcoma,NS3
5528KRASsoft tissue,striated muscle,rhabdomyosarcoma,NS3
6585NRASsoft tissue,striated muscle,rhabdomyosarcoma,NS3
7586NRASsoft tissue,striated muscle,rhabdomyosarcoma,NS3
8476BRAFsoft tissue,striated muscle,rhabdomyosarcoma,NS3
9496HRASsoft tissue,striated muscle,rhabdomyosarcoma,NS3
101235326PIK3CAsoft tissue,striated muscle,rhabdomyosarcoma,NS3

Expression for genes affiliated with Li-Fraumeni Syndrome

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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 Suite gene sharing:

(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 regulation58
9.5TP53, CHEK2, MDM2
4
Show member pathways
p53 pathway36
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
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
8.8CDKN1A, PTEN, MDM2, TP53
21
Show member pathways
8.7TP53, PTEN, MDM2, CDKN2A, CHEK2
22
Show member pathways
Cell cycle36
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 regulation58
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)36
Wnt Signaling Pathway and Pluripotency36
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 pathway58
8.3MDM2, CDKN1A, TP53, PTEN, MLH1
328.3MLH1, PTEN, TP53, MDM2, CDKN1A
338.2MDM2, PTEN, BRCA1, CDKN1A
34
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
8.2BRCA1, MDM2, CHEK2, TP53, PTEN
35
Show member pathways
ATM Signaling Pathway36
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 response36
7.3CHEK2, BRCA1, CDKN2A, PTEN, TP53, MDM2
487.0PTEN, TP53, BRCA2, BRCA1, CHEK2, MDM2
49
Show member pathways
Signaling Pathways in Glioblastoma36
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 Suite gene sharing:

(show top 50)    (show all 127)
idCompoundScoreTop Affiliating Genes
1acnu439.5CDKN1A, CDKN2A, TP53
210-hydroxycamptothecin439.4CDKN1A, MDM2, TP53
3roscovitine439.2CDKN1A, CDKN2A, MDM2, TP53
4crcs439.2CDKN2A, MLH1, TP53, PTEN
5o6-methylguanine439.1CDKN2A, TP53, MLH1, BRCA2
6noxa439.1PTEN, TP53, CDKN1A, MDM2
7flavopiridol43 1210.1MDM2, CDKN2A, CDKN1A, TP53
8bpde439.1MDM2, BRCA1, TP53, CHEK2
9temozolomide43 1210.0TP53, MLH1, CDKN1A, CDKN2A, CHEK2
105-methylcytosine43 249.9BRCA1, TP53, MLH1, CDKN2A
11aphidicolin438.9BRCA1, CHEK2, CDKN1A, TP53
12irinotecan43 49 1210.9MLH1, TP53, MDM2, CDKN1A, CDKN2A
13arsenite43 249.7CDKN1A, TP53, CDKN2A, MDM2, PTEN
14leptomycin b43 599.7MDM2, BRCA1, TP53, CDKN1A
15oxaliplatin43 49 1210.6TP53, BRCA1, CDKN1A, MLH1
16carboplatin43 49 1210.5MDM2, BRCA1, TP53, MLH1
17benzo(a)pyrene438.4TP53, MDM2, CDKN1A, BRCA1, XPC
18bortezomib43 49 1210.3CDKN1A, BRCA1, TP53, PTEN
19methylmethanesulfonate438.2CDKN1A, BRCA2, BRCA1, MDM2, TP53
20adpribose438.2MDM2, CDKN1A, TP53, BRCA2, BRCA1
21resveratrol43 59 24 1211.2CDKN1A, BRCA1, TP53, BRCA2, MDM2
22indole-3-carbinol438.1BRCA1, BRCA2, TP53, PTEN, CDKN1A
23thymidylate438.1MDM2, CDKN2A, CDKN1A, BRCA1, TP53, MLH1
24agar438.0BRCA1, MDM2, CDKN1A, PTEN, CDKN2A
25hydroxyurea43 49 1210.0CDKN2A, CDKN1A, CHEK2, BRCA1, TP53, BRCA2
26mg 13243 599.0CDKN1A, BRCA1, PTEN, TP53, MDM2, CDKN2A
27gemcitabine43 49 1210.0TP53, MLH1, BRCA1, CDKN1A, CHEK2, PTEN
28vincristine43 49 129.9PTEN, BRCA2, BRCA1, MDM2, CDKN2A, TP53
29docetaxel43 49 59 1210.9CDKN2A, CDKN1A, MDM2, BRCA1, BRCA2, TP53
30thymidine43 248.7MLH1, CDKN1A, MDM2, BRCA2, TP53, BRCA1
31adriamycin437.7TP53, BRCA2, CHEK2, MDM2, CDKN1A, CDKN2A
32tamoxifen43 49 28 1210.6CDKN1A, BRCA1, PTEN, TP53, BRCA2
335-aza-2deoxycytidine437.6TP53, PTEN, MDM2, CDKN1A, CDKN2A, MLH1
345fluorouracil437.6CDKN2A, TP53, PTEN, MLH1, BRCA1, MDM2
35vegf437.5BRCA1, MDM2, MLH1, CDKN2A, TP53, PTEN
36oxygen43 248.4MDM2, CDKN1A, CDKN2A, MLH1, PTEN, BRCA1
37genistein43 28 59 2 24 1212.4MDM2, CDKN2A, CHEK2, BRCA1, CDKN1A, BRCA2
38cycloheximide437.4BRCA1, BRCA2, MDM2, TP53, CDKN2A, PTEN
39doxorubicin43 49 129.3TP53, MDM2, CDKN1A, CHEK2, BRCA1, PTEN
40camptothecin43 59 129.2CDKN2A, MLH1, CDKN1A, MDM2, TP53, BRCA2
41steroid437.0MDM2, MLH1, PTEN, CDKN2A, BRCA1, BRCA2
42etoposide43 49 59 1210.0CHEK2, MDM2, TP53, PTEN, MLH1, CDKN1A
43retinoic acid43 248.0PTEN, MLH1, BRCA2, CHEK2, BRCA1, CDKN2A
44paclitaxel43 49 129.0MDM2, CDKN1A, BRCA1, BRCA2, TP53, MLH1
45paraffin437.0CDKN2A, CDKN1A, MDM2, BRCA1, TP53, PTEN
46progesterone43 28 59 24 1210.9MDM2, TP53, BRCA2, BRCA1, CDKN1A, CDKN2A
47h2o2436.9BRCA2, MLH1, PTEN, MDM2, CDKN1A, CDKN2A
48estrogen436.9PTEN, MLH1, BRCA1, CDKN2A, CDKN1A, MDM2
49oligonucleotide436.7CDKN1A, PTEN, TP53, BRCA2, BRCA1, CHEK2
50cisplatin43 49 59 129.3MLH1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:00166049.5TP53, MDM2, CDKN2A
2PML bodyGO:00166059.1PTEN, CHEK2, TP53
3protein complexGO:00432348.1BRCA2, BRCA1, MDM2, CDKN2A, TP53
4cytoplasmGO:00057377.1CDKN2A, MDM2, XPC, BRCA1, BRCA2, TP53
5nucleolusGO:00057307.1TP53, PTEN, MLH1, XPC, BRCA2, MDM2
6nucleoplasmGO:00056546.9CDKN1A, TP53, BRCA2, BRCA1, CHEK2, XPC
7nucleusGO:00056346.0CDKN1A, MDM2, XPC, BRCA1, BRCA2, TP53

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein catabolic processGO:004217610.1MDM2, CHEK2
2protein destabilizationGO:003164810.0CDKN2A, MDM2
3mitotic cell cycle arrestGO:007185010.0TP53, CDKN1A
4replicative senescenceGO:009039910.0CHEK2, TP53, CDKN2A
5negative regulation of cyclin-dependent protein serine/threonine kinase activityGO:00457369.9CDKN1A, CDKN2A
6cellular senescenceGO:00903989.9CDKN2A, CDKN1A
7response to X-rayGO:00101659.9BRCA2, TP53
8negative regulation of phosphorylationGO:00423269.8CDKN1A, CDKN2A
9cellular response to ionizing radiationGO:00714799.8TP53, CDKN1A
10response to arsenic-containing substanceGO:00466859.8PTEN, CDKN1A
11cell agingGO:00075699.7BRCA2, TP53
12positive regulation of reactive oxygen species metabolic processGO:020003799.7TP53, CDKN1A
13response to antibioticGO:00466779.7MDM2, TP53
14Ras protein signal transductionGO:00072659.7TP53, CDKN2A, CDKN1A
15DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.7TP53, MDM2, CDKN1A
16protein stabilizationGO:00508219.7CDKN2A, CHEK2, PTEN
17response to gamma radiationGO:00103329.7TP53, CHEK2, BRCA2
18negative regulation of cell growthGO:00303089.7CDKN2A, CDKN1A, TP53
19cell cycle arrestGO:00070509.7TP53, CDKN2A, CDKN1A
20regulation of protein stabilityGO:00316479.6CDKN2A, PTEN
21positive regulation of mitotic cell cycleGO:00459319.6BRCA2, MDM2
22nucleotide-excision repairGO:00062899.5XPC, BRCA2, TP53
23intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:00427719.5CDKN1A, BRCA2, TP53
24positive regulation of cell cycle arrestGO:00711589.4CDKN2A, TP53, BRCA1
25phosphatidylinositol-mediated signalingGO:00480159.4PTEN, MDM2, CDKN1A
26fibroblast growth factor receptor signaling pathwayGO:00085439.4CDKN1A, PTEN, MDM2
27Fc-epsilon receptor signaling pathwayGO:00380959.3PTEN, CDKN1A, MDM2
28intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.3MLH1, BRCA1, CHEK2
29epidermal growth factor receptor signaling pathwayGO:00071739.3CDKN1A, MDM2, PTEN
30negative regulation of cell proliferationGO:00082859.2TP53, CDKN1A, CDKN2A, PTEN
31DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.2BRCA1, TP53, BRCA2
32negative regulation of apoptotic processGO:00430669.1MDM2, TP53, PTEN, CDKN1A
33response to drugGO:00424939.0CDKN1A, MDM2, XPC, PTEN
34negative regulation of transcription, DNA-templatedGO:00458929.0TP53, MDM2, BRCA1, CDKN2A
35cellular response to DNA damage stimulusGO:00069749.0CHEK2, TP53, BRCA1, CDKN1A
36double-strand break repairGO:00063028.9TP53, BRCA2, BRCA1, CHEK2
37neurotrophin TRK receptor signaling pathwayGO:00480118.8CDKN1A, MDM2, PTEN
38DNA repairGO:00062818.6BRCA2, BRCA1, XPC
39positive regulation of transcription, DNA-templatedGO:00458938.5CDKN2A, CHEK2, BRCA1, BRCA2, TP53

Molecular functions related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:00036849.8TP53, XPC
2MDM2/MDM4 family protein bindingGO:00973719.7CDKN2A, TP53
3p53 bindingGO:00020399.6CDKN2A, MDM2, TP53
4cyclin-dependent protein serine/threonine kinase inhibitor activityGO:00048619.3CDKN2A, CDKN1A
5protein kinase bindingGO:00199019.1PTEN, TP53, CHEK2, CDKN2A
6single-stranded DNA bindingGO:00036979.0XPC, BRCA2, MLH1
7ubiquitin protein ligase bindingGO:00316258.9MDM2, CHEK2, BRCA1, TP53
8enzyme bindingGO:00198998.6MDM2, BRCA1, TP53, PTEN
9protein bindingGO:00055156.0TP53, BRCA2, BRCA1, CHEK2, XPC, MDM2

Products for genes affiliated with Li-Fraumeni Syndrome

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Sources for Li-Fraumeni Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet