LFS
MCID: LFR001
MIFTS: 73

Li-Fraumeni Syndrome (LFS)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Li-Fraumeni Syndrome

MalaCards integrated aliases for Li-Fraumeni Syndrome:

Name: Li-Fraumeni Syndrome 57 11 24 19 42 58 75 73 28 12 53 5 43 14 38 71
Sarcoma Family Syndrome of Li and Fraumeni 57 19 42 73
Sbla Syndrome 57 11 19 42
Lfs 57 42 73
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 42
Sarcoma, Breast, Leukaemia and Adrenal Gland Syndrome 11
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 11
Sbla Syndrome Li-Fraumeni-Like Syndrome 73
Li-Fraumeni Syndrome 1 71
Li Fraumeni Syndrome 19
Lfs1 19
Lfl 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (United Kingdom, United States) 58

Age Of Onset:

All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
increased risk of developing multiple primary cancers
early age of onset
penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers
female mutation carriers have earlier age at onset compared to male mutation carriers
gestational choriocarcinoma is seen in female partners of lfs patients after parental-fetal transmission of germline tp53 mutation from male carriers


GeneReviews:

24
Penetrance Lfs is typically considered to be a highly penetrant cancer syndrome with a 70% or higher lifetime risk of cancer in men and a 90% or higher lifetime risk of cancer in women [mai et al 2016, guha & malkin 2017]. another study reported an 80% risk of cancer by age 70, with 22% of the cancers occurring between ages 0 and15 years, 51% between ages 16 and 50 years, and 27% between ages 51 and 80 years [amadou et al 2018]....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Summaries for Li-Fraumeni Syndrome

OMIM®: 57 Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterized by autosomal dominant inheritance and early onset of tumors, multiple tumors within an individual, and multiple affected family members. In contrast to other inherited cancer syndromes, which are predominantly characterized by site-specific cancers, LFS presents with a variety of tumor types. The most common types are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. Classic LFS is defined as a proband with a sarcoma before the age of 45 years and a first-degree relative with any cancer before the age of 45 years and 1 additional first- or second-degree relative in the same lineage with any cancer before the age of 45 years or a sarcoma at any age (Li et al., 1988). Li-Fraumeni-like syndrome (LFL) is defined as a proband with any childhood cancer, or a sarcoma, brain tumor, or adrenocortical tumor before the age of 45 years, plus a first- or second-degree relative in the same lineage with a typical LFS tumor at any age, and an additional first- or second-degree relative in the same lineage with any cancer before the age of 60 years (Birch et al., 1994). A less restrictive definition of LFL is 2 different LFS-related tumors in first- or second-degree relatives at any age (Eeles, 1995). Approximately 70% of LFS cases and 40% of LFL cases contain germline mutations in the p53 gene on chromosome 17p13.1 (Bachinski et al., 2005). (151623) (Updated 08-Dec-2022)

MalaCards based summary: Li-Fraumeni Syndrome, also known as sarcoma family syndrome of li and fraumeni, is related to gastric cancer and pilocytic astrocytoma. An important gene associated with Li-Fraumeni Syndrome is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Gene expression (Transcription) and ERK Signaling. The drugs Nicotinamide and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, breast and brain, and related phenotypes are breast carcinoma and osteosarcoma

MedlinePlus Genetics: 42 Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.

UniProtKB/Swiss-Prot: 73 An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.

GARD: 19 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 in the TP53 gene and is inherited in an autosomal dominant manner.

Orphanet: 58 A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.

Disease Ontology: 11 A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

Wikipedia: 75 Li-Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to... more...

GeneReviews: NBK1311

Related Diseases for Li-Fraumeni Syndrome

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2 Li-Fraumeni Syndrome 1

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

(show top 50) (show all 521)
# Related Disease Score Top Affiliating Genes
1 gastric cancer 32.8 TP53 PTEN MLH1 MDM2 EGFR CHEK2
2 pilocytic astrocytoma 32.6 TP53 PTEN IDH1 EGFR CDKN2A
3 glioblastoma 32.6 TP53 PTEN MLH1 MDM2 IDH1 EGFR
4 bap1 tumor predisposition syndrome 32.1 TP53 SMARCB1 SMARCA4 PTEN MLH1 EGFR
5 inherited cancer-predisposing syndrome 32.1 TP53 SMARCB1 SMARCA4 PTEN MLH1 EGFR
6 osteogenic sarcoma 32.0 TP53 MDM2 CHEK2 CDKN2A CDKN1A
7 brain cancer 32.0 TP53 SMARCB1 PTEN MDM2 IDH1 EGFR
8 adrenal cortical carcinoma 31.9 TP53 PTEN MLH1 MDM2 EGFR CHEK2
9 choroid plexus cancer 31.8 TP53 SMARCB1 SMARCA4 BRCA2
10 liposarcoma 31.7 TP53 PTEN MDM2 CDKN2A BCL2
11 bilateral breast cancer 31.6 TP53 PTEN MLH1 CHEK2 CDKN2A BRCA2
12 leiomyosarcoma 31.6 TP53 MDM2 CHEK2 CDKN2A BRCA1 BCL2
13 rhabdomyosarcoma 31.6 TP53 SMARCB1 SMARCA4 PTEN MLH1 MDM2
14 lung cancer susceptibility 3 31.5 TP53 MLH1 IDH1 EGFR CDKN2A CDKN1A
15 lymphoma 31.5 TP53 MDM2 EGFR CHEK2 CDKN2A BCL2
16 lynch syndrome 31.4 TP53 PTEN MLH1 IDH1 EGFR CHEK2
17 hereditary breast cancer 31.4 CHEK2 BRCA2 BRCA1
18 adenocarcinoma 31.4 TP53 PTEN MLH1 MDM2 EGFR CDKN2A
19 breast cancer 31.4 TP53 SMARCA4 PTEN MLH1 MDM2 IDH1
20 central nervous system cancer 31.4 TP53 SMARCB1 IDH1 EGFR
21 papilloma 31.4 TP53 PTEN EGFR CDKN2A CDKN1A BCL2
22 burkitt lymphoma 31.3 TP53 CDKN2A CDKN1A BCL2 ATM
23 leukemia, acute myeloid 31.3 TP53 PTEN MDM2 IDH1 EGFR CHEK2
24 wilms tumor 1 31.3 TP53 SMARCB1 PTEN MDM2 EGFR CHEK2
25 hereditary breast ovarian cancer syndrome 31.3 TP53 SMARCA4 PTEN MLH1 EGFR CHEK2
26 skin carcinoma 31.3 TP53 PTEN EGFR CDKN2A BCL2
27 myxoid liposarcoma 31.3 TP53 SMARCB1 MDM2
28 tumor predisposition syndrome 1 31.3 SMARCB1 BRCA2
29 melanoma 31.3 TP53 PTEN MLH1 MDM2 CDKN2A CDKN1A
30 high grade glioma 31.2 TP53 PTEN MDM2 EGFR CDKN2A CDKN1A
31 ductal carcinoma in situ 31.2 TP53 PTEN EGFR CDKN2A BRCA2 BRCA1
32 diffuse gastric and lobular breast cancer syndrome 31.2 TP53 PTEN MLH1 CHEK2 BRCA2 BRCA1
33 b-cell lymphoma 31.2 TP53 MDM2 CDKN2A CDKN1A BCL2 ATM
34 medulloblastoma 31.2 TP53 SMARCB1 SMARCA4 PTEN MDM2 IDH1
35 basal cell carcinoma 31.1 TP53 PTEN MLH1 EGFR CHEK2 CDKN2A
36 meningioma, familial 31.1 TP53 SMARCB1 SMARCA4 PTEN MDM2 IDH1
37 adenoma 31.1 TP53 MLH1 CDKN2A BCL2
38 embryonal rhabdomyosarcoma 31.1 TP53 SMARCB1 MDM2
39 breast fibroadenoma 31.1 TP53 EGFR BRCA2 BRCA1
40 fibrosarcoma 31.1 TP53 EGFR CDKN1A BCL2
41 myelodysplastic syndrome 31.1 TP53 IDH1 CHEK2 CDKN2A BCL2
42 serous cystadenocarcinoma 31.1 TP53 PTEN MLH1 CDKN2A BRCA2 BRCA1
43 bone sarcoma 31.1 TP53 MDM2 IDH1 BCL2
44 mesenchymal cell neoplasm 31.1 TP53 SMARCB1 MDM2
45 lung cancer 31.1 TP53 SMARCA4 PTEN MLH1 MDM2 IDH1
46 female breast cancer 31.0 TP53 MLH1 EGFR CDKN2A BRCA2 BRCA1
47 rectal benign neoplasm 31.0 TP53 MLH1 EGFR
48 diffuse gastric cancer 31.0 TP53 PTEN MLH1 CHEK2 BRCA2 BRCA1
49 rectum cancer 31.0 TP53 MLH1 EGFR CDKN1A
50 telangiectasis 31.0 TP53 CHEK2 ATM

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



Diseases related to Li-Fraumeni Syndrome

Symptoms & Phenotypes for Li-Fraumeni Syndrome

Human phenotypes related to Li-Fraumeni Syndrome:

58 30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 breast carcinoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0003002
2 osteosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002669
3 rhabdomyosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002859
4 astrocytoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009592
5 stomach cancer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012126
6 colorectal polyposis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200063
7 adrenocortical carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006744
8 ependymoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002888
9 glioblastoma multiforme 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012174
10 central primitive neuroectodermal tumor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030070
11 choroid plexus carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030392
12 melanoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002861
13 myelodysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002863
14 neoplasm of the lung 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100526
15 ovarian neoplasm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100615
16 neoplasm of the pancreas 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002894
17 acute lymphoblastic leukemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0006721
18 colon cancer 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003003
19 renal neoplasm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009726
20 thyroid carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002890
21 testicular neoplasm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010788
22 medulloblastoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002885
23 acute myeloid leukemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004808
24 prostate cancer 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012125
25 hodgkin lymphoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012189
26 neoplasm of head and neck 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012288
27 neoplasm of the larynx 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100605
28 non-hodgkin lymphoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012539
29 choriocarcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100768
30 neoplasm 58 Very frequent (99-80%)
31 leukemia 58 Occasional (29-5%)
32 lymphoma 58 Occasional (29-5%)
33 acute leukemia 30 HP:0002488
34 neoplasm of the gastrointestinal tract 58 Occasional (29-5%)
35 neoplasm of the rectum 58 Very rare (<4-1%)
36 neoplasm of the central nervous system 58 Occasional (29-5%)
37 nephroblastoma 30 HP:0002667
38 lung adenocarcinoma 30 HP:0030078
39 soft tissue sarcoma 30 HP:0030448

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
colon cancer
lung adenocarcinoma
prostate cancer
wilms tumor
breast cancer
more

Clinical features from OMIM®:

151623 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:

25 (show top 50) (show all 81)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.83 EGFR
2 Decreased viability GR00055-A-2 10.83 EGFR
3 Decreased viability GR00221-A-1 10.83 CDKN2A CHEK1 EGFR SMARCB1
4 Decreased viability GR00221-A-2 10.83 CHEK1 CHEK2 BRCA1 SMARCB1
5 Decreased viability GR00221-A-3 10.83 ATM CDKN2A CHEK1 CHEK2 BRCA1 SMARCB1
6 Decreased viability GR00221-A-4 10.83 ATM CDKN2A CHEK1 CHEK2 EGFR
7 Decreased viability GR00240-S-1 10.83 CHEK1
8 Decreased viability GR00249-S 10.83 CHEK1 SMARCB1
9 Decreased viability GR00301-A 10.83 CHEK1 BRCA1
10 Decreased viability GR00342-S-2 10.83 CHEK2
11 Decreased viability GR00381-A-1 10.83 CHEK1 SMARCB1
12 Decreased viability GR00386-A-1 10.83 CHEK1
13 Decreased viability GR00402-S-2 10.83 CHEK1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-1 10.72 MLH1 CHEK2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.72 SMARCA4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.72 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.72 BCL2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-108 10.72 CDKN1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.72 ATM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.72 CHEK2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.72 ATM CHEK2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.72 CHEK2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.72 CHEK1 EGFR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.72 ATM CHEK1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.72 CHEK2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.72 MLH1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.72 CHEK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-134 10.72 BCL2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.72 BRCA1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.72 ATM BRCA1 CDKN1A CHEK1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.72 CDKN1A CHEK2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.72 CHEK1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.72 CHEK1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.72 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.72 ATM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.72 ATM BCL2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-160 10.72 ATM
38 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.72 BRCA1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.72 SMARCA4
40 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.72 SMARCB1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.72 BCL2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.72 CHEK1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.72 BCL2 SMARCB1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.72 CHEK1 MLH1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.72 BCL2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.72 MLH1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.72 BRCA1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.72 EGFR
49 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.72 BCL2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.72 BRCA1

MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 10.5 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
2 nervous system MP:0003631 10.49 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
3 homeostasis/metabolism MP:0005376 10.49 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
4 growth/size/body region MP:0005378 10.43 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
5 endocrine/exocrine gland MP:0005379 10.39 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
6 cellular MP:0005384 10.36 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
7 embryo MP:0005380 10.34 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
8 muscle MP:0005369 10.32 BCL2 BRCA1 CAV1 CDKN1A CDKN2A EGFR
9 cardiovascular system MP:0005385 10.31 ATM BCL2 BRCA1 CAV1 CDKN1A CDKN2A
10 immune system MP:0005387 10.31 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
11 digestive/alimentary MP:0005381 10.29 BCL2 BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
12 pigmentation MP:0001186 10.26 BCL2 BRCA1 CDKN2A CHEK1 EGFR MDM2
13 renal/urinary system MP:0005367 10.24 BCL2 BRCA1 CAV1 CDKN1A EGFR MDM2
14 liver/biliary system MP:0005370 10.22 CAV1 CDKN1A CDKN2A EGFR MDM2 PTEN
15 limbs/digits/tail MP:0005371 10.21 BRCA1 BRCA2 CAV1 CDKN1A EGFR MDM2
16 reproductive system MP:0005389 10.2 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
17 adipose tissue MP:0005375 10.15 ATM BCL2 BRCA1 CAV1 CDKN1A EGFR
18 respiratory system MP:0005388 10.07 BRCA1 CAV1 CDKN1A CDKN2A EGFR IDH1
19 hematopoietic system MP:0005397 10.06 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
20 skeleton MP:0005390 10 BRCA1 BRCA2 CAV1 CDKN1A CDKN2A EGFR
21 mortality/aging MP:0010768 9.91 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A
22 integument MP:0010771 9.5 ATM BCL2 BRCA1 BRCA2 CAV1 CDKN1A

Drugs & Therapeutics for Li-Fraumeni Syndrome

Drugs for Li-Fraumeni Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3
Tannic acid Approved Phase 1, Phase 2 1401-55-4 16129878 16129778
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
6 Folate Phase 1, Phase 2
7 Vitamins Phase 1, Phase 2
8 Vitamin B9 Phase 1, Phase 2
9 Vitamin B3 Phase 1, Phase 2
10 Trace Elements Phase 1, Phase 2
11 Nicotinic Acids Phase 1, Phase 2
12 Antimetabolites Phase 1, Phase 2
13 Vasodilator Agents Phase 1, Phase 2
14 Vitamin B Complex Phase 1, Phase 2
15 Hypolipidemic Agents Phase 1, Phase 2
16 Lipid Regulating Agents Phase 1, Phase 2
17 Micronutrients Phase 1, Phase 2
18
Phosphocreatine Nutraceutical Phase 1, Phase 2 67-07-2 587
19
Metformin Approved Phase 1 1115-70-4, 657-24-9 4091
20 Hypoglycemic Agents Phase 1
21 Anesthetics

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome) Completed NCT01464086 Phase 3
2 Exploratory Study of Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome Completed NCT03789175 Phase 1, Phase 2
3 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
4 Metabolic Regulation by Tumor Suppressor p53 in Li-Fraumeni Syndrome Completed NCT00406445
5 Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting Completed NCT02289326
6 Phenotype and Prognosis of Patients With Breast Cancer and Pathogenic Variants of TP53 (BREAST TP53) Completed NCT04966923
7 Magnetic Resonance Imaging Screening In Li Fraumeni Syndrome: An Exploratory Whole Body MRI Study Completed NCT01737255
8 Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes Recruiting NCT02950987
9 Clinical and Molecular Studies of Li-Fraumeni Syndrome and TP53-associated Disorders Recruiting NCT04367246
10 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
11 Cardiovascular Disease Discovery Protocol Recruiting NCT01143454
12 Evaluate Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling Based on LFSPRO-ShinyApp Data Recruiting NCT05126810
13 Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome Recruiting NCT01443468
14 Li-Fraumeni & TP53: Understanding and Progress (LiFT UP) Recruiting NCT04541654
15 Registry of Li Fraumeni and Li Fraumeni Like Syndromes - Registro Della Sindrome di Li Fraumeni Classica e Li Fraumeni Like Recruiting NCT04982744
16 Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study. Enrolling by invitation NCT03176836

Search NIH Clinical Center for Li-Fraumeni Syndrome

Cochrane evidence based reviews: li-fraumeni syndrome

Genetic Tests for Li-Fraumeni Syndrome

Genetic tests related to Li-Fraumeni Syndrome:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 28 TP53

Anatomical Context for Li-Fraumeni Syndrome

Organs/tissues related to Li-Fraumeni Syndrome:

MalaCards : Adrenal Gland, Breast, Brain, Bone, Kidney, Prostate, Lung
ODiseA: Mammary Gland, Respiratory System-Lung, Respiratory System, Kidney

Publications for Li-Fraumeni Syndrome

Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 1503)
# Title Authors PMID Year
1
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 62 24 57 5
27501770 2016
2
High frequency of de novo mutations in Li-Fraumeni syndrome. 53 62 57 5
19556618 2009
3
Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. 53 62 57 5
15381368 2004
4
Increased oxidative metabolism in the Li-Fraumeni syndrome. 62 57 5
23484829 2013
5
Gastric cancer in individuals with Li-Fraumeni syndrome. 62 57 5
21552135 2011
6
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. 62 57 5
18685109 2008
7
Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation. 62 57 5
15977174 2005
8
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 62 57 5
9242456 1997
9
Li-Fraumeni syndrome--a molecular and clinical review. 62 57 5
9218725 1997
10
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 62 57 5
7887414 1995
11
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. 62 57 5
8118819 1994
12
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 62 57 5
1978757 1990
13
Genotype-phenotype associations among panel-based TP53+ subjects. 62 24 5
31105275 2019
14
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. 62 24 5
29070607 2018
15
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 62 24 5
28369373 2017
16
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. 62 24 5
27496084 2016
17
Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome. 62 24 5
25318593 2015
18
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 62 24 5
26014290 2015
19
Transmission of germline TP53 mutations from male carriers to female partners. 57 5
25612911 2015
20
Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. 62 24 5
24382691 2014
21
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. 57 5
21056402 2010
22
Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. 57 5
12610779 2003
23
Mutational processes shape the landscape of TP53 mutations in human cancer. 24 5
30224644 2018
24
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24 5
25741868 2015
25
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 53 62 5
20522432 2010
26
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 53 62 5
20407015 2010
27
Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome. 53 62 5
20017945 2009
28
Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer. 53 62 5
19405127 2009
29
p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma. 53 62 5
19714490 2009
30
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset. 53 62 5
19468865 2009
31
Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families. 53 62 5
17541742 2008
32
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. 53 62 5
15925506 2005
33
Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. 53 62 5
15607981 2004
34
Prenatal diagnosis in Li-Fraumeni syndrome. 53 62 5
15342977 2004
35
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 53 62 5
12885464 2003
36
Germline TP53 mutations and Li-Fraumeni syndrome. 53 62 57
12619118 2003
37
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 53 62 5
11719428 2001
38
p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. 53 62 5
11479205 2001
39
Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. 53 62 5
10980596 2000
40
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 53 62 57
10484981 1999
41
Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2. 53 62 5
10432928 1999
42
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. 53 62 57
10389970 1999
43
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. 53 62 5
9792154 1998
44
Three germline mutations in the TP53 gene. 53 62 5
9067756 1997
45
Incidence of germ-line p53 mutations in patients with gliomas. 53 62 5
8550239 1995
46
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. 53 62 5
7783166 1995
47
Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma. 53 62 5
7978053 1994
48
High frequency of germline p53 mutations in childhood adrenocortical cancer. 53 62 5
7966399 1994
49
A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family. 53 62 5
7936651 1994
50
Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation. 53 62 5
8134126 1994

Variations for Li-Fraumeni Syndrome

ClinVar genetic disease variations for Li-Fraumeni Syndrome:

5 (show top 50) (show all 1758)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP53 NM_000546.6(TP53):c.374C>A (p.Thr125Lys) SNV Pathogenic
216465 rs786201057 GRCh37: 17:7579313-7579313
GRCh38: 17:7675995-7675995
2 TP53 NM_000546.6(TP53):c.672+1G>A SNV Pathogenic
216078 rs863224499 GRCh37: 17:7578176-7578176
GRCh38: 17:7674858-7674858
3 TP53 NM_000546.6(TP53):c.652G>A (p.Val218Met) SNV Pathogenic
237952 rs878854072 GRCh37: 17:7578197-7578197
GRCh38: 17:7674879-7674879
4 TP53 NM_000546.6(TP53):c.673-1G>T SNV Pathogenic
237953 rs878854073 GRCh37: 17:7577609-7577609
GRCh38: 17:7674291-7674291
5 TP53 NM_000546.6(TP53):c.662del (p.Glu221fs) DEL Pathogenic
237951 rs878854071 GRCh37: 17:7578187-7578187
GRCh38: 17:7674869-7674869
6 overlap with 2 genes NM_000546.5(TP53):c.-202_*1207del DEL Pathogenic
237937 GRCh37: 17:7571720-7590868
GRCh38: 17:7668402-7687550
7 TP53 NM_000546.6(TP53):c.716del (p.Asn239fs) DEL Pathogenic
406580 rs1060501197 GRCh37: 17:7577565-7577565
GRCh38: 17:7674247-7674247
8 TP53 NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) SNV Pathogenic
376686 rs1057520008 GRCh37: 17:7578236-7578236
GRCh38: 17:7674918-7674918
9 TP53 NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) SNV Pathogenic
12383 rs121912666 GRCh37: 17:7578190-7578190
GRCh38: 17:7674872-7674872
10 TP53 NM_000546.6(TP53):c.448_460del (p.Thr150fs) DEL Pathogenic
406602 rs1064792930 GRCh37: 17:7578470-7578482
GRCh38: 17:7675152-7675164
11 TP53 NM_000546.6(TP53):c.313G>C (p.Gly105Arg) SNV Pathogenic
406574 rs1060501195 GRCh37: 17:7579374-7579374
GRCh38: 17:7676056-7676056
12 TP53 NM_000546.6(TP53):c.334_364dup (p.Val122fs) DUP Pathogenic
430665 rs1555526495 GRCh37: 17:7579322-7579323
GRCh38: 17:7676004-7676005
13 TP53 NM_000546.6(TP53):c.321C>A (p.Tyr107Ter) SNV Pathogenic
406599 rs770776262 GRCh37: 17:7579366-7579366
GRCh38: 17:7676048-7676048
14 TP53 NM_000546.5(TP53):c.2588dup DUP Pathogenic
437018 rs1555523630 GRCh37: 17:7571520-7571521
GRCh38: 17:7668202-7668203
15 TP53 NM_000546.6(TP53):c.156dup (p.Trp53fs) DUP Pathogenic
458525 rs1555526748 GRCh37: 17:7579530-7579531
GRCh38: 17:7676212-7676213
16 TP53 NM_000546.6(TP53):c.372C>A (p.Cys124Ter) SNV Pathogenic
458537 rs1555526478 GRCh37: 17:7579315-7579315
GRCh38: 17:7675997-7675997
17 TP53 NM_000546.6(TP53):c.990_993del (p.Gln331fs) DEL Pathogenic
458579 rs1555524949 GRCh37: 17:7576853-7576856
GRCh38: 17:7673535-7673538
18 TP53 NM_000546.6(TP53):c.112del (p.Gln38fs) DEL Pathogenic
458519 rs1555526795 GRCh37: 17:7579575-7579575
GRCh38: 17:7676257-7676257
19 TP53 NM_000546.6(TP53):c.715_724del (p.Asn239fs) DEL Pathogenic
458558 rs1555525518 GRCh37: 17:7577557-7577566
GRCh38: 17:7674239-7674248
20 TP53 NM_000546.6(TP53):c.870dup (p.Lys291fs) DUP Pathogenic
458573 rs1555525140 GRCh37: 17:7577067-7577068
GRCh38: 17:7673749-7673750
21 TP53 NM_000546.6(TP53):c.848_857del (p.Arg283fs) DEL Pathogenic
458569 rs1555525170 GRCh37: 17:7577081-7577090
GRCh38: 17:7673763-7673772
22 TP53 NC_000017.11:g.(?_7669603)_(7676600_?)del DEL Pathogenic
528283 GRCh37: 17:7572921-7579918
GRCh38: 17:7669603-7676600
23 TP53 NM_000546.6(TP53):c.310C>T (p.Gln104Ter) SNV Pathogenic
566924 rs1567555934 GRCh37: 17:7579377-7579377
GRCh38: 17:7676059-7676059
24 TP53 NM_000546.6(TP53):c.151G>T (p.Glu51Ter) SNV Pathogenic
568781 rs1567556930 GRCh37: 17:7579536-7579536
GRCh38: 17:7676218-7676218
25 TP53 NM_000546.6(TP53):c.917_919+6del DEL Pathogenic
570307 rs1567546716 GRCh37: 17:7577013-7577021
GRCh38: 17:7673695-7673703
26 TP53 NM_000546.6(TP53):c.841_842del (p.Asp281fs) MICROSAT Pathogenic
570804 rs1567547661 GRCh37: 17:7577096-7577097
GRCh38: 17:7673778-7673779
27 TP53 NM_000546.6(TP53):c.702_714del (p.His233_Tyr234insTer) DEL Pathogenic
574669 rs1567549676 GRCh37: 17:7577567-7577579
GRCh38: 17:7674249-7674261
28 TP53 NM_000546.6(TP53):c.844_847delinsAG (p.Arg283fs) INDEL Pathogenic
528267 rs1555525209 GRCh37: 17:7577091-7577094
GRCh38: 17:7673773-7673776
29 TP53 NM_000546.6(TP53):c.452C>G (p.Pro151Arg) SNV Pathogenic
376640 rs1057520000 GRCh37: 17:7578478-7578478
GRCh38: 17:7675160-7675160
30 TP53 NM_000546.6(TP53):c.155_156del (p.Gln52fs) DEL Pathogenic
528265 rs1555526750 GRCh37: 17:7579531-7579532
GRCh38: 17:7676213-7676214
31 TP53 NM_000546.6(TP53):c.820_821del (p.Val274fs) MICROSAT Pathogenic
575419 rs1567547933 GRCh37: 17:7577117-7577118
GRCh38: 17:7673799-7673800
32 TP53 NM_000546.6(TP53):c.1043_1051delinsG (p.Leu348_Lys351delinsTer) INDEL Pathogenic
576681 rs1567541951 GRCh37: 17:7573976-7573984
GRCh38: 17:7670658-7670666
33 TP53 NM_000546.6(TP53):c.522_559+5del DEL Pathogenic
528272 rs1555525957 GRCh37: 17:7578366-7578408
GRCh38: 17:7675048-7675090
34 TP53 NM_000546.6(TP53):c.86del (p.Asn29fs) DEL Pathogenic
528243 rs1555526931 GRCh37: 17:7579710-7579710
GRCh38: 17:7676392-7676392
35 TP53 NM_000546.6(TP53):c.949del (p.Gln317fs) DEL Pathogenic
577286 rs1567546196 GRCh37: 17:7576897-7576897
GRCh38: 17:7673579-7673579
36 TP53 NM_000546.6(TP53):c.492_493delinsCT (p.Lys164_Gln165delinsAsnTer) INDEL Pathogenic
579699 rs1567553215 GRCh37: 17:7578437-7578438
GRCh38: 17:7675119-7675120
37 TP53 NM_000546.6(TP53):c.517_535dup (p.His179fs) DUP Pathogenic
580994 rs1567552753 GRCh37: 17:7578394-7578395
GRCh38: 17:7675076-7675077
38 TP53 NC_000017.11:g.(?_7669599)_(7676604_?)del DEL Pathogenic
583792 GRCh37: 17:7572917-7579922
GRCh38: 17:7669599-7676604
39 TP53 NM_000546.6(TP53):c.295del (p.Ser99fs) DEL Pathogenic
528244 rs1555526593 GRCh37: 17:7579392-7579392
GRCh38: 17:7676074-7676074
40 TP53 NM_000546.6(TP53):c.257_279del (p.Ala86fs) DEL Pathogenic
280704 rs886041861 GRCh37: 17:7579408-7579430
GRCh38: 17:7676090-7676112
41 TP53 NM_000546.6(TP53):c.97-11C>G SNV Pathogenic
638852 rs769697802 GRCh37: 17:7579601-7579601
GRCh38: 17:7676283-7676283
42 TP53 NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) SNV Pathogenic
376585 rs764146326 GRCh37: 17:7577097-7577097
GRCh38: 17:7673779-7673779
43 TP53 NM_000546.6(TP53):c.551_554del (p.Asp184fs) DEL Pathogenic
639824 rs1597369519 GRCh37: 17:7578376-7578379
GRCh38: 17:7675058-7675061
44 TP53 NM_000546.6(TP53):c.511G>T (p.Glu171Ter) SNV Pathogenic
634771 rs587781845 GRCh37: 17:7578419-7578419
GRCh38: 17:7675101-7675101
45 TP53 NM_000546.6(TP53):c.329_330delinsCC (p.Arg110Pro) INDEL Pathogenic
641505 rs1597373700 GRCh37: 17:7579357-7579358
GRCh38: 17:7676039-7676040
46 TP53 NM_000546.6(TP53):c.661G>T (p.Glu221Ter) SNV Pathogenic
634754 rs786201592 GRCh37: 17:7578188-7578188
GRCh38: 17:7674870-7674870
47 TP53 NM_000546.6(TP53):c.250del (p.Ala84fs) DEL Pathogenic
646068 rs1597374343 GRCh37: 17:7579437-7579437
GRCh38: 17:7676119-7676119
48 TP53 NM_000546.6(TP53):c.788del (p.Asn263fs) DEL Pathogenic
643332 rs1597362423 GRCh37: 17:7577150-7577150
GRCh38: 17:7673832-7673832
49 TP53 NM_000546.6(TP53):c.509_510dup (p.Glu171fs) DUP Pathogenic
640351 rs1597370110 GRCh37: 17:7578419-7578420
GRCh38: 17:7675101-7675102
50 overlap with 62 genes NC_000017.11:g.(?_7669599)_(8382320_?)del DEL Pathogenic
649065 GRCh37: 17:7572917-8285638
GRCh38: 17:7669599-8382320

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

73 (show top 50) (show all 83)
# Symbol AA change Variation ID SNP ID
1 TP53 p.Met133Thr VAR_005875 rs28934873
2 TP53 p.Ala138Pro VAR_005881 rs28934875
3 TP53 p.Cys141Tyr VAR_005886 rs587781288
4 TP53 p.Pro151Ser VAR_005895 rs28934874
5 TP53 p.Pro151Thr VAR_005896 rs28934874
6 TP53 p.Pro152Leu VAR_005897 rs587782705
7 TP53 p.Arg158Gly VAR_005906
8 TP53 p.Arg158His VAR_005907 rs587782144
9 TP53 p.Val173Met VAR_005926 rs876660754
10 TP53 p.Arg175Gly VAR_005929 rs138729528
11 TP53 p.Arg175Leu VAR_005930 rs28934578
12 TP53 p.Arg175His VAR_005932 rs28934578
13 TP53 p.His193Arg VAR_005948 rs786201838
14 TP53 p.Arg213Gln VAR_005955 rs587778720
15 TP53 p.Tyr220Cys VAR_005957 rs121912666
16 TP53 p.Tyr234Cys VAR_005963 rs587780073
17 TP53 p.Met237Ile VAR_005965 rs587782664
18 TP53 p.Ser241Phe VAR_005969 rs28934573
19 TP53 p.Gly245Cys VAR_005972 rs28934575
20 TP53 p.Gly245Asp VAR_005973 rs121912656
21 TP53 p.Gly245Ser VAR_005974 rs28934575
22 TP53 p.Gly245Val VAR_005975 rs121912656
23 TP53 p.Met246Val VAR_005978 rs483352695
24 TP53 p.Arg248Gln VAR_005983 rs11540652
25 TP53 p.Arg248Trp VAR_005984 rs121912651
26 TP53 p.Leu252Pro VAR_005988 rs121912653
27 TP53 p.Glu258Lys VAR_005991 rs121912652
28 TP53 p.Val272Leu VAR_005992 rs121912657
29 TP53 p.Arg273Cys VAR_005993 rs121913343
30 TP53 p.Arg273Gly VAR_005994
31 TP53 p.Arg273His VAR_005995 rs28934576
32 TP53 p.Cys275Tyr VAR_005998 rs863224451
33 TP53 p.Pro278Leu VAR_006003 rs876659802
34 TP53 p.Pro278Ser VAR_006004 rs17849781
35 TP53 p.Pro278Thr VAR_006005 rs17849781
36 TP53 p.Arg282Trp VAR_006016 rs28934574
37 TP53 p.Arg283Cys VAR_006017 rs149633775
38 TP53 p.Glu285Gln VAR_006024
39 TP53 p.Glu286Ala VAR_006026 rs1057519985
40 TP53 p.Pro309Ser VAR_006038 rs1555525012
41 TP53 p.Gly325Val VAR_006039 rs121912659
42 TP53 p.Arg337Cys VAR_006041 rs587782529
43 TP53 p.Lys292Ile VAR_015819 rs121912663
44 TP53 p.Tyr163Cys VAR_033035 rs148924904
45 TP53 p.Arg337His VAR_035016 rs121912664
46 TP53 p.Arg213Pro VAR_036506 rs587778720
47 TP53 p.Arg273Leu VAR_036509 rs28934576
48 TP53 p.Pro82Leu VAR_044621 rs534447939
49 TP53 p.Gly105Cys VAR_044661
50 TP53 p.Lys132Glu VAR_044740 rs747342068

Cosmic variations for Li-Fraumeni Syndrome:

8 (show top 50) (show all 2190)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM138972819 NOTCH2 soft tissue,breast,sarcoma,NS c.1028A>G p.N343S 1:119968196-119968196 20
2 COSM88406309 NOTCH2 soft tissue,breast,sarcoma,NS c.1145A>G p.N382S 1:119968196-119968196 20
3 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 15
4 COSM95520543 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 15
5 COSM95523461 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 15
6 COSM95526780 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 15
7 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 15
8 COSM128908220 DICER1 soft tissue,kidney,sarcoma,NS c.5438A>G p.E1813G 14:95091292-95091292 12
9 COSM92462437 DICER1 soft tissue,kidney,sarcoma,NS c.5438A>G p.E1813G 14:95091292-95091292 12
10 COSM134823886 DICER1 soft tissue,kidney,sarcoma,NS c.2132A>G p.E711G 14:95091292-95091292 12
11 COSM131473358 DICER1 soft tissue,kidney,sarcoma,NS c.5365-196G>A p.? 14:95091305-95091305 12
12 COSM131473389 DICER1 soft tissue,kidney,sarcoma,NS c.5365-183A>G p.? 14:95091292-95091292 12
13 COSM127764521 DICER1 soft tissue,kidney,sarcoma,NS c.5438A>G p.E1813G 14:95091292-95091292 12
14 COSM88263437 ZRSR2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.347G>T p.R116M 23:15804145-15804145 7
15 COSM145027950 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1135A>C p.I379L 11:102229710-102229710 7
16 COSM133274141 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1249A>C p.I417L 11:102229710-102229710 7
17 COSM127997659 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1237A>C p.I413L 11:102229710-102229710 7
18 COSM128451947 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1123A>C p.I375L 11:102229710-102229710 7
19 COSM90948185 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1183A>C p.I395L 11:102229710-102229710 7
20 COSM143041436 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1297A>C p.I433L 11:102229710-102229710 7
21 COSM126972975 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.751A>C p.I251L 11:102229710-102229710 7
22 COSM85237368 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1285A>C p.I429L 11:102229710-102229710 7
23 COSM104886424 XPO1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.775A>G p.M259V 2:61496992-61496992 7
24 COSM101979959 XPO1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.775A>G p.M259V 2:61496992-61496992 7
25 COSM104239738 XPO1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.775A>G p.M259V 2:61496992-61496992 7
26 COSM150325143 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4431G>T p.K1477N 16:2085292-2085292 7
27 COSM151376969 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4626G>T p.K1542N 16:2085292-2085292 7
28 COSM147707709 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4503G>T p.K1501N 16:2085292-2085292 7
29 COSM87041630 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4632G>T p.K1544N 16:2085292-2085292 7
30 COSM149815549 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4500G>T p.K1500N 16:2085292-2085292 7
31 COSM110115210 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4323G>T p.K1441N 16:2085292-2085292 7
32 COSM148992474 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4434G>T p.K1478N 16:2085292-2085292 7
33 COSM101192446 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4287G>T p.K1429N 16:2085292-2085292 7
34 COSM150366200 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4428G>T p.K1476N 16:2085292-2085292 7
35 COSM90416270 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4563G>T p.K1521N 16:2085292-2085292 7
36 COSM151518516 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4557G>T p.K1519N 16:2085292-2085292 7
37 COSM151753572 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4503G>T p.K1501N 16:2085292-2085292 7
38 COSM102630716 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4431G>T p.K1477N 16:2085292-2085292 7
39 COSM136629420 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4464G>T p.K1488N 16:2085292-2085292 7
40 COSM150584387 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4425G>T p.K1475N 16:2085292-2085292 7
41 COSM93201361 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.644G>C p.S215T 17:7674887-7674887 7
42 COSM93183630 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 7
43 COSM106065628 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 7
44 COSM143944164 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.340C>T p.R114C 17:7673803-7673803 7
45 COSM112255322 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 7
46 COSM122271658 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.337G>T p.G113C 17:7674230-7674230 7
47 COSM121875983 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.347G>A p.R116Q 17:7674220-7674220 7
48 COSM143370668 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.584A>G p.Y195C 17:7674262-7674262 7
49 COSM87907551 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.581T>G p.L194R 17:7674950-7674950 7
50 COSM143943565 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.47G>A p.R16H 17:7675088-7675088 7

Copy number variations for Li-Fraumeni Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 116393 17 6500000 10700000 Copy number TP53 Li-fraumeni syndrome
2 117991 17 7505821 7531588 Deletion TP53 Li-fraumeni syndrome
3 118109 17 7571720 7590863 Copy number TP53 Li-fraumeni syndrome
4 162983 22 23500000 25900000 Copy number Li-fraumeni syndrome

Expression for Li-Fraumeni Syndrome

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

Pathways for Li-Fraumeni Syndrome

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

(show top 50) (show all 91)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.13 ATM BRCA1 CAV1 CDKN1A CDKN2A CHEK1
2
Show member pathways
13.9 TP53 PTEN MDM2 EGFR CHEK2 CHEK1
3
Show member pathways
13.89 TP53 PTEN MDM2 EGFR CHEK2 CHEK1
4
Show member pathways
13.88 TP53 PTEN MLH1 MDM2 IDH1 EGFR
5 13.83 BCL2 CAV1 CDKN1A CHEK1 EGFR MDM2
6
Show member pathways
13.74 TP53 MDM2 EGFR CDKN2A CDKN1A BRCA2
7
Show member pathways
13.62 WRAP53 TP53 MLH1 MDM2 CHEK2 CHEK1
8
Show member pathways
13.56 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
9
Show member pathways
13.46 TP53 PTEN MDM2 EGFR CHEK1 CDKN1A
10
Show member pathways
13.27 ATM BRCA1 BRCA2 CHEK1 CHEK2 MLH1
11
Show member pathways
13.07 TP53 PTEN MLH1 MDM2 CHEK2 CHEK1
12
Show member pathways
13.05 TP53 PTEN MDM2 EGFR CDKN1A BRCA1
13
Show member pathways
13.01 BCL2 CDKN1A CDKN2A EGFR MDM2 PTEN
14
Show member pathways
12.98 TP53 MLH1 CHEK2 BRCA2 BRCA1 ATM
15
Show member pathways
12.89 TP53 MDM2 CHEK2 CHEK1 CDKN2A CDKN1A
16
Show member pathways
12.82 BCL2 BRCA2 CDKN1A CDKN2A EGFR MDM2
17
Show member pathways
12.8 ATM BRCA1 BRCA2 CHEK1 MLH1
18 12.8 TP53 PTEN MDM2 EGFR CDKN2A CDKN1A
19
Show member pathways
12.79 TP53 MDM2 CDKN2A CDKN1A ATM
20
Show member pathways
12.71 TP53 MDM2 CHEK2 CHEK1 CDKN1A BRCA2
21
Show member pathways
12.69 MLH1 CHEK1 BRCA2 BRCA1 ATM
22
Show member pathways
12.61 TP53 PTEN MDM2 EGFR CDKN1A BRCA2
23
Show member pathways
12.57 ATM BCL2 CHEK1 CHEK2 EGFR MDM2
24
Show member pathways
12.55 TP53 MDM2 EGFR CAV1
25
Show member pathways
12.47 CHEK2 CHEK1 CDKN2A CDKN1A BRCA1
26
Show member pathways
12.42 TP53 CHEK2 BRCA1 ATM
27
Show member pathways
12.4 TP53 MDM2 CHEK2 CHEK1 CDKN2A CDKN1A
28 12.37 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
29 12.35 PTEN EGFR CAV1 BCL2
30
Show member pathways
12.34 TP53 PTEN MDM2 EGFR CDKN1A BCL2
31
Show member pathways
12.32 TP53 PTEN MDM2 CDKN1A
32
Show member pathways
12.29 ATM BCL2 BRCA1 CDKN1A CHEK1 CHEK2
33 12.26 TP53 MLH1 EGFR CDKN1A
34
Show member pathways
12.26 TP53 MDM2 CHEK2 CHEK1 CDKN1A BRCA1
35
Show member pathways
12.25 PTEN MDM2 EGFR CDKN1A CAV1
36
Show member pathways
12.21 TP53 PTEN CDKN2A CDKN1A
37
Show member pathways
12.18 TP53 CDKN2A CDKN1A ATM
38 12.11 TP53 PTEN MDM2 CDKN2A CDKN1A BCL2
39 12.08 TP53 PTEN MDM2 CDKN1A BCL2 ATM
40
Show member pathways
12.05 TP53 MDM2 CHEK2 CHEK1 CDKN2A BRCA2
41 12.02 BCL2 CAV1 CDKN1A EGFR MDM2 MLH1
42 12 TP53 PTEN CDKN1A BCL2
43
Show member pathways
11.96 ATM BRCA1 CDKN1A CHEK1 CHEK2 MDM2
44 11.94 TP53 MDM2 CHEK1 CDKN1A
45 11.92 PTEN MLH1 CDKN1A
46
Show member pathways
11.92 ATM CDKN2A CHEK2 MDM2 TP53
47 11.9 TP53 PTEN EGFR CDKN2A CDKN1A
48 11.89 TP53 SMARCA4 MDM2 CDKN1A
49
Show member pathways
11.89 TP53 SMARCB1 SMARCA4 CHEK2 CHEK1 BRCA2
50 11.88 MDM2 CHEK1 CDKN1A BRCA2

GO Terms for Li-Fraumeni Syndrome

Cellular components related to Li-Fraumeni Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.48 ATM BCL2 BRCA1 BRCA2 CDKN1A CDKN2A
2 chromosome, telomeric region GO:0000781 9.85 WRAP53 CHEK2 CHEK1 BRCA2 ATM
3 nuclear ubiquitin ligase complex GO:0000152 9.73 BRCA2 BRCA1
4 condensed nuclear chromosome GO:0000794 9.71 MLH1 CHEK1 BRCA1
5 protein-containing complex GO:0032991 9.66 TP53 SMARCB1 SMARCA4 MDM2 EGFR CHEK1
6 germ cell nucleus GO:0043073 9.56 SMARCB1 TP53
7 DNA repair complex GO:1990391 9.43 BRCA2 BRCA1 ATM
8 SWI/SNF superfamily-type complex GO:0070603 9.37 SMARCB1 SMARCA4

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.5 TP53 SMARCA4 EGFR CHEK2 CDKN2A BRCA2
2 signal transduction in response to DNA damage GO:0006975 10.42 CHEK2 CHEK1 ATM
3 signal transduction in response to DNA damage GO:0042770 10.42 CHEK2 CHEK1 ATM
4 apoptotic process GO:0006915 10.38 TP53 PTEN MDM2 CHEK2 CHEK1 CDKN2A
5 negative regulation of cell population proliferation GO:0008285 10.37 BCL2 CAV1 CDKN1A CDKN2A PTEN SMARCB1
6 cellular response to hypoxia GO:0071456 10.26 TP53 PTEN MDM2 BCL2
7 negative regulation of cell growth GO:0030308 10.26 TP53 SMARCA4 CDKN2A CDKN1A BRCA1 BCL2
8 DNA repair GO:0006281 10.25 ATM BRCA1 BRCA2 CHEK1 CHEK2 MLH1
9 regulation of cell cycle GO:0051726 10.25 ATM BCL2 BRCA1 CDKN1A CDKN2A MDM2
10 heart development GO:0007507 10.24 TP53 PTEN MDM2 CDKN1A ATM
11 regulation of G1/S transition of mitotic cell cycle GO:2000045 10.19 SMARCB1 SMARCA4 CDKN2A CDKN1A
12 double-strand break repair GO:0006302 10.19 TP53 CHEK2 BRCA2 BRCA1 ATM
13 cellular response to ionizing radiation GO:0071479 10.17 TP53 CDKN1A BRCA2 BRCA1
14 positive regulation of DNA repair GO:0045739 10.16 BRCA1 EGFR WRAP53
15 cellular senescence GO:0090398 10.16 ATM BRCA2 CDKN1A CDKN2A TP53
16 positive regulation of double-strand break repair GO:2000781 10.15 WRAP53 SMARCB1 SMARCA4
17 regulation of signal transduction by p53 class mediator GO:1901796 10.14 CHEK2 CHEK1 ATM
18 mitotic G2 DNA damage checkpoint signaling GO:0007095 10.14 CHEK1 CDKN1A BRCA1 ATM
19 DNA damage checkpoint signaling GO:0000077 10.13 CHEK2 CHEK1 ATM
20 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 10.13 BRCA2 CDKN1A CHEK2 TP53
21 phosphorylation GO:0016310 10.12 EGFR CHEK2 CHEK1 CDKN2A CDKN1A ATM
22 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 10.11 CDKN1A CDKN2A PTEN
23 cell cycle GO:0007049 10.1 TP53 SMARCB1 MLH1 CHEK2 CHEK1 CDKN2A
24 negative regulation of reactive oxygen species metabolic process GO:2000378 10.09 TP53 BRCA1 BCL2
25 cellular response to gamma radiation GO:0071480 10.07 TP53 MDM2 CHEK2 CDKN1A ATM
26 response to gamma radiation GO:0010332 10.05 TP53 CHEK2 BRCA2 BCL2
27 cell population proliferation GO:0008283 10.03 TP53 PTEN EGFR CAV1 BRCA2 BCL2
28 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 10.03 TP53 CHEK2 CDKN1A BRCA2
29 female gonad development GO:0008585 10.02 IDH1 BRCA2 ATM
30 negative regulation of B cell proliferation GO:0030889 10 ATM CDKN2A PTEN
31 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 10 ATM BCL2 BRCA1 BRCA2 CHEK2 MLH1
32 B cell lineage commitment GO:0002326 9.96 BCL2 TP53
33 cellular response to actinomycin D GO:0072717 9.95 TP53 MDM2
34 chromosome organization GO:0051276 9.93 TP53 SMARCA4 BRCA2
35 positive regulation of glucose mediated signaling pathway GO:1902661 9.92 SMARCB1 SMARCA4
36 cellular response to DNA damage stimulus GO:0006974 9.89 ATM BCL2 BRCA1 BRCA2 CDKN1A CHEK1
37 chordate embryonic development GO:0043009 9.85 BRCA2 BRCA1
38 T cell lineage commitment GO:0002360 9.85 TP53 BCL2
39 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.85 TP53 MDM2 CHEK2 CDKN1A ATM
40 signal transduction by p53 class mediator GO:0072331 9.83 TP53 CDKN1A
41 positive regulation of miRNA maturation GO:1903800 9.68 TP53 EGFR
42 replicative senescence GO:0090399 9.4 TP53 CHEK2 CHEK1 CDKN2A CDKN1A ATM

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 10.21 TP53 PTEN CHEK2 CDKN2A CDKN1A CAV1
2 enzyme binding GO:0019899 10.1 TP53 PTEN MLH1 MDM2 EGFR CAV1
3 identical protein binding GO:0042802 10.07 ATM BCL2 BRCA1 BRCA2 CAV1 CHEK2
4 protein N-terminus binding GO:0047485 9.97 TP53 SMARCA4 MDM2 ATM
5 p53 binding GO:0002039 9.85 BRCA1 MDM2 SMARCA4 SMARCB1 TP53
6 disordered domain specific binding GO:0097718 9.8 TP53 MDM2 CDKN2A
7 kinase activity GO:0016301 9.8 ATM CDKN1A CDKN2A CHEK1 CHEK2 EGFR
8 ubiquitin protein ligase binding GO:0031625 9.53 WRAP53 TP53 MDM2 EGFR CHEK2 CDKN1A

Sources for Li-Fraumeni Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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