LFS
MCID: LFR001
MIFTS: 73

Li-Fraumeni Syndrome (LFS)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Li-Fraumeni Syndrome

MalaCards integrated aliases for Li-Fraumeni Syndrome:

Name: Li-Fraumeni Syndrome 57 12 73 25 20 43 58 72 36 29 13 54 6 44 15 70
Sarcoma Family Syndrome of Li and Fraumeni 57 20 43 72
Sbla Syndrome 57 12 20 43
Lfs 57 43 72
Sarcoma, Breast, Leukemia, and Adrenal Gland Syndrome 43
Sarcoma, Breast, Leukaemia and Adrenal Gland Syndrome 12
Li-Fraumeni Familiar Cancer Susceptibility Syndrome 12
Sbla Syndrome Li-Fraumeni-Like Syndrome 72
Li-Fraumeni Syndrome 1 70
Li Fraumeni Syndrome 20
Lfs1 20
Lfl 72

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
li-fraumeni syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 20-May-2021)

MalaCards based summary : Li-Fraumeni Syndrome, also known as sarcoma family syndrome of li and fraumeni, is related to li-fraumeni syndrome 1 and soft tissue sarcoma. An important gene associated with Li-Fraumeni Syndrome is TP53 (Tumor Protein P53), and among its related pathways/superpathways are MAPK signaling pathway and Cell cycle. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include breast, lung and adrenal gland, and related phenotypes are breast carcinoma and osteosarcoma

Disease Ontology : 12 A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

MedlinePlus Genetics : 43 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.

GARD : 20 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.

KEGG : 36 Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, LFS and its variants are increasingly recognized as one of the most frequent and diverse forms of predisposition to cancer. Most cases identified and characterized to date are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP53 (p53). In a subset of non-p53 patients with LFS, CHEK2 has been identified as another predisposing locus. LFS is diagnosed on the basis of the confirmed clinical diagnostic criteria.

UniProtKB/Swiss-Prot : 72 Li-Fraumeni syndrome: 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.

Wikipedia : 73 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 451)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 1 33.6 WRAP53 TP53 CHEK2
2 soft tissue sarcoma 32.9 TP53 MDM2 EGFR
3 gastric cancer 32.7 TP53 RB1 PTEN MSH6 MLH1 EGFR
4 pilocytic astrocytoma 32.6 TP53 PTEN IDH1 CDKN2A
5 glioblastoma 32.5 TP53 RB1 PTEN MDM2 IDH1 EGFR
6 medulloblastoma 32.4 TP53 RB1 PTEN MSH6 MDM2 IDH1
7 osteogenic sarcoma 31.9 TP53 RB1 MDM2 CHEK2 CDKN2A CDKN1A
8 leiomyosarcoma 31.6 TP53 RB1 MDM2 CHEK2 CDKN2A
9 liposarcoma 31.6 TP53 RB1 PTEN MDM2 CDKN2A
10 sarcoma 31.6 TP53 RB1 MDM2 CHEK2 CDKN1A
11 bilateral breast cancer 31.5 TP53 PTEN MSH6 MLH1 CHEK2 CDKN2A
12 rhabdomyosarcoma 31.5 TP53 RB1 PTEN MSH6 MLH1 MDM2
13 lung cancer susceptibility 3 31.4 TP53 RB1 MLH1 IDH1 EGFR CDKN2A
14 papilloma 31.4 TP53 RB1 PTEN EGFR CDKN2A CDKN1A
15 brain cancer 31.3 TP53 RB1 PTEN MSH6 MDM2 IDH1
16 melanoma 31.3 TP53 RB1 PTEN MDM2 IDH1 EGFR
17 adenocarcinoma 31.3 TP53 RB1 PTEN MSH6 MLH1 MDM2
18 malignant astrocytoma 31.3 TP53 PTEN MDM2 IDH1 EGFR CDKN2A
19 lymphoma 31.3 TP53 RB1 MSH6 MDM2 EGFR CHEK2
20 myelodysplastic syndrome 31.3 TP53 PTEN MDM2 IDH1 CHEK2 CDKN2A
21 breast cancer 31.2 TP53 RB1 PTEN MSH6 MLH1 MDM2
22 squamous cell papilloma 31.2 TP53 CDKN2A
23 in situ carcinoma 31.2 TP53 PTEN EGFR CDKN2A BRCA2 BRCA1
24 hereditary breast ovarian cancer syndrome 31.2 TP53 PTEN MSH6 MLH1 CHEK2 CDKN2A
25 b-cell lymphoma 31.2 TP53 MDM2 CDKN2A CDKN1A ATM
26 adenoma 31.1 TP53 MSH6 MLH1 CDKN2A
27 gastric cancer, hereditary diffuse 31.1 TP53 PTEN MSH6 MLH1 CHEK2 BRCA2
28 ductal carcinoma in situ 31.1 TP53 PTEN EGFR CDKN2A BRCA2 BRCA1
29 lynch syndrome 31.0 TP53 RB1 PTEN MSH6 MLH1 MDM2
30 ataxia-telangiectasia 31.0 TP53 MDM2 CHEK2 CHEK1 CDKN1A BRCA2
31 leukemia, acute myeloid 31.0 TP53 PTEN MDM2 IDH1 EGFR CHEK2
32 colorectal cancer 31.0 TP53 RB1 PTEN MSH6 MLH1 MDM2
33 lung cancer 30.9 TP53 RB1 PTEN MLH1 MDM2 IDH1
34 suppressor of tumorigenicity 3 30.9 TP53 RB1 CDKN2A CDKN1A
35 xeroderma pigmentosum, variant type 30.9 XPC TP53 MSH6 MLH1 CHEK2 CHEK1
36 fallopian tube carcinoma 30.9 TP53 PTEN BRCA2 BRCA1
37 oral cancer 30.9 TP53 MDM2 EGFR CDKN2A CDKN1A
38 female breast cancer 30.9 TP53 BRCA2 BRCA1 ATM
39 rectum adenocarcinoma 30.9 TP53 MSH6 MLH1 EGFR
40 small cell carcinoma 30.9 TP53 PTEN EGFR CDKN2A BRCA2
41 inflammatory myofibroblastic tumor 30.9 TP53 RB1 MDM2 CDKN1A
42 lung benign neoplasm 30.9 TP53 RB1 EGFR CDKN2A
43 malignant peritoneal mesothelioma 30.9 EGFR CDKN2A
44 well-differentiated liposarcoma 30.9 TP53 MDM2 CDKN2A
45 prostate cancer 30.9 TP53 RB1 PTEN MSH6 MDM2 EGFR
46 intracranial meningioma 30.9 MLH1 CDKN2A
47 breast ductal carcinoma 30.9 TP53 EGFR CDKN1A BRCA2 BRCA1
48 laryngeal squamous cell carcinoma 30.9 TP53 PTEN EGFR CDKN2A
49 small cell cancer of the lung 30.9 TP53 RB1 PTEN EGFR CDKN2A
50 myxofibrosarcoma 30.9 TP53 MDM2 CDKN1A

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
colon cancer
lung adenocarcinoma
prostate cancer
wilms tumor
breast cancer
more

Clinical features from OMIM®:

151623 (Updated 20-May-2021)

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

26 (show top 50) (show all 63)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.72 EGFR
2 Decreased viability GR00055-A-2 10.72 EGFR
3 Decreased viability GR00221-A-1 10.72 CDKN2A CHEK1 EGFR
4 Decreased viability GR00221-A-2 10.72 CHEK1 CHEK2 BRCA1
5 Decreased viability GR00221-A-3 10.72 ATM CDKN2A CHEK1 CHEK2 BRCA1
6 Decreased viability GR00221-A-4 10.72 ATM CDKN2A CHEK1 CHEK2 EGFR
7 Decreased viability GR00240-S-1 10.72 CHEK1
8 Decreased viability GR00249-S 10.72 CHEK1
9 Decreased viability GR00301-A 10.72 CHEK1 BRCA1
10 Decreased viability GR00342-S-2 10.72 CHEK2
11 Decreased viability GR00381-A-1 10.72 CHEK1
12 Decreased viability GR00386-A-1 10.72 CHEK1
13 Decreased viability GR00402-S-2 10.72 CHEK1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-1 10.64 MLH1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.64 ATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-108 10.64 CDKN1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.64 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.64 ATM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.64 CHEK1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.64 ATM CHEK1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.64 MLH1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.64 CHEK1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.64 BRCA1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.64 ATM BRCA1 CDKN1A CHEK1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.64 CDKN1A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.64 CHEK1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.64 CHEK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.64 ATM
29 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.64 ATM
30 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.64 ATM
31 Increased shRNA abundance (Z-score > 2) GR00366-A-160 10.64 ATM
32 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.64 BRCA1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.64 RB1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.64 RB1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.64 CHEK1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.64 RB1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.64 CHEK1 MLH1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.64 MLH1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.64 BRCA1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.64 RB1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.64 BRCA1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.64 CHEK1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-38 10.64 CDKN1A
44 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.64 CDKN1A
45 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.64 ATM
46 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.64 RB1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.64 RB1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.64 CHEK1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.64 CHEK1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.64 ATM

MGI Mouse Phenotypes related to Li-Fraumeni Syndrome:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
2 homeostasis/metabolism MP:0005376 10.49 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
3 hematopoietic system MP:0005397 10.42 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
4 endocrine/exocrine gland MP:0005379 10.41 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
5 mortality/aging MP:0010768 10.41 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
6 immune system MP:0005387 10.4 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
7 integument MP:0010771 10.39 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
8 behavior/neurological MP:0005386 10.38 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
9 cardiovascular system MP:0005385 10.38 ATM BRCA1 CAV1 CDKN1A CDKN2A CHEK1
10 growth/size/body region MP:0005378 10.37 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
11 embryo MP:0005380 10.35 ATM BRCA1 BRCA2 CDKN1A CDKN2A CHEK1
12 digestive/alimentary MP:0005381 10.32 BRCA1 BRCA2 CAV1 CDKN1A CDKN2A EGFR
13 neoplasm MP:0002006 10.31 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
14 adipose tissue MP:0005375 10.26 ATM BRCA1 CAV1 CDKN1A EGFR PTEN
15 nervous system MP:0003631 10.21 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
16 limbs/digits/tail MP:0005371 10.1 BRCA1 BRCA2 CDKN1A EGFR MDM2 PTEN
17 muscle MP:0005369 10.09 BRCA1 CAV1 CDKN1A CDKN2A EGFR MDM2
18 liver/biliary system MP:0005370 10.08 CAV1 CDKN1A CDKN2A EGFR MDM2 PTEN
19 reproductive system MP:0005389 10 ATM BRCA1 BRCA2 CAV1 CDKN1A CDKN2A
20 pigmentation MP:0001186 9.92 BRCA1 CDKN2A CHEK1 EGFR MDM2 PTEN
21 renal/urinary system MP:0005367 9.86 BRCA1 CAV1 CDKN1A EGFR MDM2 PTEN
22 respiratory system MP:0005388 9.65 BRCA1 CAV1 CDKN1A CDKN2A EGFR IDH1
23 skeleton MP:0005390 9.36 BRCA1 BRCA2 CAV1 CDKN1A CDKN2A EGFR

Drugs & Therapeutics for Li-Fraumeni Syndrome

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
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 Micronutrients Phase 1, Phase 2
7 Antimetabolites Phase 1, Phase 2
8 Vasodilator Agents Phase 1, Phase 2
9 Trace Elements Phase 1, Phase 2
10 Nutrients Phase 1, Phase 2
11 Vitamin B9 Phase 1, Phase 2
12 Vitamin B Complex Phase 1, Phase 2
13 Hypolipidemic Agents Phase 1, Phase 2
14 Vitamin B3 Phase 1, Phase 2
15 Folate Phase 1, Phase 2
16 Vitamins Phase 1, Phase 2
17 Lipid Regulating Agents Phase 1, Phase 2
18 Nicotinic Acids Phase 1, Phase 2
19
Phosphocreatine Nutraceutical Phase 1, Phase 2 67-07-2 587
20
Metformin Approved Phase 1 657-24-9 14219 4091
21 Hypoglycemic Agents Phase 1
22 Anesthetics

Interventional clinical trials:

(show all 13)
# 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 Magnetic Resonance Imaging Screening In Li Fraumeni Syndrome: An Exploratory Whole Body MRI Study Completed NCT01737255
5 Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting Completed NCT02289326
6 Metabolic Regulation by Tumor Suppressor p53 in Li-Fraumeni Syndrome Completed NCT00406445
7 Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome Recruiting NCT01443468
8 Clinical and Molecular Studies of Li-Fraumeni Syndrome and TP53-associated Disorders Recruiting NCT04367246
9 Li-Fraumeni & TP53: Understanding and Progress (LiFT UP) Recruiting NCT04541654
10 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
11 Cardiovascular Disease Discovery Protocol Recruiting NCT01143454
12 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
13 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 29 TP53

Anatomical Context for Li-Fraumeni Syndrome

MalaCards organs/tissues related to Li-Fraumeni Syndrome:

40
Breast, Lung, Adrenal Gland, Bone, Colon, Myeloid, Kidney

Publications for Li-Fraumeni Syndrome

Articles related to Li-Fraumeni Syndrome:

(show top 50) (show all 1457)
# 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. 61 6 25 57
27501770 2016
2
High frequency of de novo mutations in Li-Fraumeni syndrome. 6 57 54 61
19556618 2009
3
Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. 61 54 6 57
15381368 2004
4
Germline TP53 mutations and Li-Fraumeni syndrome. 57 6 54 61
12619118 2003
5
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 61 54 6 57
10484981 1999
6
Increased oxidative metabolism in the Li-Fraumeni syndrome. 61 57 6
23484829 2013
7
Gastric cancer in individuals with Li-Fraumeni syndrome. 57 6 61
21552135 2011
8
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. 6 57 61
18685109 2008
9
Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation. 61 6 57
15977174 2005
10
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 57 6 61
9242456 1997
11
Li-Fraumeni syndrome--a molecular and clinical review. 57 6 61
9218725 1997
12
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 61 6 57
7887414 1995
13
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. 61 6 57
8118819 1994
14
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 57 6 61
1978757 1990
15
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. 61 25 6
29070607 2018
16
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 25 6 61
28369373 2017
17
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. 61 25 6
27496084 2016
18
Germline TP53 variants and susceptibility to osteosarcoma. 6 61 25
25896519 2015
19
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 25 6 61
26014290 2015
20
Transmission of germline TP53 mutations from male carriers to female partners. 57 6
25612911 2015
21
Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. 6 25 61
24382691 2014
22
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. 6 57
21056402 2010
23
Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. 6 57
12610779 2003
24
Germline mutations in the TP53 gene. 57 6
8718514 1995
25
Mutational processes shape the landscape of TP53 mutations in human cancer. 6 25
30224644 2018
26
The Inherited p53 Mutation in the Brazilian Population. 6 25
27663983 2016
27
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. 25 6
26641009 2016
28
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 61 54 6
20522432 2010
29
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 61 6 54
20407015 2010
30
Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome. 61 54 6
20017945 2009
31
Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer. 6 54 61
19405127 2009
32
Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome. 61 6 54
19012332 2009
33
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset. 54 61 6
19468865 2009
34
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. 61 54 6
19714490 2009
35
Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families. 6 54 61
17541742 2008
36
Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population. 61 54 6
17690113 2007
37
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. 61 6 54
15925506 2005
38
Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. 61 6 54
15607981 2004
39
Prenatal diagnosis in Li-Fraumeni syndrome. 6 54 61
15342977 2004
40
Familial sarcoma: challenging pedigrees. 6 54 61
14584079 2003
41
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors. 6 54 61
12885464 2003
42
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 6 61 54
11719428 2001
43
p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. 6 54 61
11479205 2001
44
Mechanism of functional inactivation of a Li-Fraumeni syndrome p53 that has a mutation outside of the DNA-binding domain. 6 61 54
11245491 2001
45
Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. 54 61 6
10980596 2000
46
Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2. 54 6 61
10432928 1999
47
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. 57 54 61
10389970 1999
48
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. 61 54 6
9792154 1998
49
Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation. 54 61 6
9839505 1998
50
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. 61 6 54
9569035 1998

Variations for Li-Fraumeni Syndrome

ClinVar genetic disease variations for Li-Fraumeni Syndrome:

6 (show top 50) (show all 1460)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP53 NM_000546.5(TP53):c.358A>T (p.Lys120Ter) SNV Pathogenic 12363 rs121912658 GRCh37: 17:7579329-7579329
GRCh38: 17:7676011-7676011
2 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) Deletion Pathogenic 128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
3 CHEK2 NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) SNV Pathogenic 5592 rs137853007 GRCh37: 22:29121242-29121242
GRCh38: 22:28725254-28725254
4 CHEK2 CHEK2, 1-BP DEL, 1422T Deletion Pathogenic 5593 GRCh37:
GRCh38:
5 TP53 NM_000546.5(TP53):c.772G>A (p.Glu258Lys) SNV Pathogenic 12348 rs121912652 GRCh37: 17:7577509-7577509
GRCh38: 17:7674191-7674191
6 TP53 NM_000546.5(TP53):c.733G>T (p.Gly245Cys) SNV Pathogenic 12349 rs28934575 GRCh37: 17:7577548-7577548
GRCh38: 17:7674230-7674230
7 TP53 NM_000546.5(TP53):c.755T>C (p.Leu252Pro) SNV Pathogenic 12350 rs121912653 GRCh37: 17:7577526-7577526
GRCh38: 17:7674208-7674208
8 TP53 NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) SNV Pathogenic 12354 rs121912655 GRCh37: 17:7577556-7577556
GRCh38: 17:7674238-7674238
9 TP53 NM_000546.5(TP53):c.734G>A (p.Gly245Asp) SNV Pathogenic 12355 rs121912656 GRCh37: 17:7577547-7577547
GRCh38: 17:7674229-7674229
10 TP53 NM_000546.5(TP53):c.398T>C (p.Met133Thr) SNV Pathogenic 12357 rs28934873 GRCh37: 17:7578532-7578532
GRCh38: 17:7675214-7675214
11 TP53 NM_000546.5(TP53):c.814G>T (p.Val272Leu) SNV Pathogenic 12358 rs121912657 GRCh37: 17:7577124-7577124
GRCh38: 17:7673806-7673806
12 TP53 NM_000546.5(TP53):c.455dup (p.Pro153fs) Duplication Pathogenic 182958 rs730882019 GRCh37: 17:7578474-7578475
GRCh38: 17:7675156-7675157
13 TP53 NM_000546.5(TP53):c.628_629del (p.Asn210fs) Deletion Pathogenic 12361 rs587776768 GRCh37: 17:7578220-7578221
GRCh38: 17:7674902-7674903
14 TP53 NM_001126112.2(TP53):c.216dup (p.Val73fs) Duplication Pathogenic 182957 rs730882018 GRCh37: 17:7579470-7579471
GRCh38: 17:7676152-7676153
15 TP53 NM_000546.6(TP53):c.844C>T (p.Arg282Trp) SNV Pathogenic 12364 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776
16 TP53 NM_000546.5(TP53):c.770T>A (p.Leu257Gln) SNV Pathogenic 12372 rs28934577 GRCh37: 17:7577511-7577511
GRCh38: 17:7674193-7674193
17 TP53 TP53, 1-BP DEL, CODON 257 Deletion Pathogenic 12373 GRCh37:
GRCh38:
18 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
19 TP53 NM_001126113.2(TP53):c.*50T>C SNV Pathogenic 12375 rs121912662 GRCh37: 17:7573996-7573996
GRCh38: 17:7670678-7670678
20 TP53 NM_000546.5(TP53):c.412G>C (p.Ala138Pro) SNV Pathogenic 12376 rs28934875 GRCh37: 17:7578518-7578518
GRCh38: 17:7675200-7675200
21 TP53 NM_000546.5(TP53):c.532del (p.His178fs) Deletion Pathogenic 12377 rs786202525 GRCh37: 17:7578398-7578398
GRCh38: 17:7675080-7675080
22 TP53 NM_000546.5(TP53):c.875A>T (p.Lys292Ile) SNV Pathogenic 12378 rs121912663 GRCh37: 17:7577063-7577063
GRCh38: 17:7673745-7673745
23 TP53 TP53, 11-BP DEL/5-BP INS Indel Pathogenic 12381 GRCh37:
GRCh38:
24 TP53 NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) SNV Pathogenic 12383 rs121912666 GRCh37: 17:7578190-7578190
GRCh38: 17:7674872-7674872
25 TP53 NM_000546.6(TP53):c.637C>T (p.Arg213Ter) SNV Pathogenic 43590 rs397516436 GRCh37: 17:7578212-7578212
GRCh38: 17:7674894-7674894
26 TP53 NM_000546.6(TP53):c.844C>T (p.Arg282Trp) SNV Pathogenic 12364 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776
27 TP53 NM_000546.6(TP53):c.637C>T (p.Arg213Ter) SNV Pathogenic 43590 rs397516436 GRCh37: 17:7578212-7578212
GRCh38: 17:7674894-7674894
28 TP53 NM_000546.6(TP53):c.844C>T (p.Arg282Trp) SNV Pathogenic 12364 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776
29 TP53 NM_000546.6(TP53):c.817C>T (p.Arg273Cys) SNV Pathogenic 43594 rs121913343 GRCh37: 17:7577121-7577121
GRCh38: 17:7673803-7673803
30 TP53 NM_000546.6(TP53):c.375G>A (p.Thr125=) SNV Pathogenic 177825 rs55863639 GRCh37: 17:7579312-7579312
GRCh38: 17:7675994-7675994
31 TP53 NM_000546.5(TP53):c.541C>T (p.Arg181Cys) SNV Pathogenic 142624 rs587782596 GRCh37: 17:7578389-7578389
GRCh38: 17:7675071-7675071
32 TP53 NM_000546.5(TP53):c.973G>T (p.Gly325Ter) SNV Pathogenic 216079 rs863224500 GRCh37: 17:7576873-7576873
GRCh38: 17:7673555-7673555
33 TP53 NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) SNV Pathogenic 215996 rs375338359 GRCh37: 17:7574002-7574002
GRCh38: 17:7670684-7670684
34 TP53 NM_000546.5(TP53):c.584T>C (p.Ile195Thr) SNV Pathogenic 216077 rs760043106 GRCh37: 17:7578265-7578265
GRCh38: 17:7674947-7674947
35 TP53 NM_000546.5(TP53):c.672+1G>A SNV Pathogenic 216078 rs863224499 GRCh37: 17:7578176-7578176
GRCh38: 17:7674858-7674858
36 TP53 NM_000546.5(TP53):c.714T>G (p.Cys238Trp) SNV Pathogenic 161515 rs193920789 GRCh37: 17:7577567-7577567
GRCh38: 17:7674249-7674249
37 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
38 TP53 NM_000546.6(TP53):c.586C>T (p.Arg196Ter) SNV Pathogenic 43589 rs397516435 GRCh37: 17:7578263-7578263
GRCh38: 17:7674945-7674945
39 TP53 NM_000546.5(TP53):c.1101-2A>G SNV Pathogenic 141332 rs587781664 GRCh37: 17:7573010-7573010
GRCh38: 17:7669692-7669692
40 TP53 NM_000546.6(TP53):c.473G>A (p.Arg158His) SNV Pathogenic 141963 rs587782144 GRCh37: 17:7578457-7578457
GRCh38: 17:7675139-7675139
41 TP53 NM_000546.5(TP53):c.652G>A (p.Val218Met) SNV Pathogenic 237952 rs878854072 GRCh37: 17:7578197-7578197
GRCh38: 17:7674879-7674879
42 TP53 NM_000546.5(TP53):c.734G>A (p.Gly245Asp) SNV Pathogenic 12355 rs121912656 GRCh37: 17:7577547-7577547
GRCh38: 17:7674229-7674229
43 TP53 NM_000546.5(TP53):c.673-1G>T SNV Pathogenic 237953 rs878854073 GRCh37: 17:7577609-7577609
GRCh38: 17:7674291-7674291
44 TP53 NM_000546.5(TP53):c.743G>C (p.Arg248Pro) SNV Pathogenic 237954 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
45 overlap with 2 genes NM_000546.5(TP53):c.-202_*1207del Deletion Pathogenic 237937 GRCh37: 17:7571720-7590868
GRCh38: 17:7668402-7687550
46 TP53 NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) SNV Pathogenic 12354 rs121912655 GRCh37: 17:7577556-7577556
GRCh38: 17:7674238-7674238
47 TP53 NM_000546.5(TP53):c.329G>C (p.Arg110Pro) SNV Pathogenic 233627 rs11540654 GRCh37: 17:7579358-7579358
GRCh38: 17:7676040-7676040
48 TP53 NM_000546.5(TP53):c.916C>T (p.Arg306Ter) SNV Pathogenic 142144 rs121913344 GRCh37: 17:7577022-7577022
GRCh38: 17:7673704-7673704
49 TP53 NM_000546.5(TP53):c.273G>A (p.Trp91Ter) SNV Pathogenic 233650 rs876660548 GRCh37: 17:7579414-7579414
GRCh38: 17:7676096-7676096
50 TP53 NM_001126112.2(TP53):c.662del (p.Glu221fs) Deletion Pathogenic 237951 rs878854071 GRCh37: 17:7578187-7578187
GRCh38: 17:7674869-7674869

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

72 (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 rs105751998
40 TP53 p.Pro309Ser VAR_006038 rs155552501
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:

9 (show top 50) (show all 626)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM93183630 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 12
2 COSM106065628 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 12
3 COSM112255322 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 12
4 COSM122271658 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.337G>T p.G113C 17:7674230-7674230 12
5 COSM145017865 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.616G>A p.G206S 17:7674230-7674230 12
6 COSM142605762 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.754A>C p.K252Q 17:7673749-7673749 12
7 COSM144013587 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.700G>A p.G234S 17:7674230-7674230 12
8 COSM144650760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.701G>A p.R234H 17:7673802-7673802 12
9 COSM122271355 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.305A>G p.Y102C 17:7674262-7674262 12
10 COSM143576669 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.551C>G p.P184R 17:7674863-7674863 12
11 COSM106096066 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 12
12 COSM145017326 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.407G>A p.R136H 17:7675088-7675088 12
13 COSM144544530 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.494A>G p.E165G 17:7674920-7674920 12
14 COSM144025238 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.361A>G p.K121E 17:7675218-7675218 12
15 COSM144020071 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.695T>C p.M232T 17:7674235-7674235 12
16 COSM112297123 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 12
17 COSM93183307 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.524G>A p.R175H 17:7675088-7675088 12
18 COSM144015364 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.604C>T p.R202* 17:7674894-7674894 12
19 COSM143371076 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.616G>A p.G206S 17:7674230-7674230 12
20 COSM142845635 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.961A>T p.K321* 17:7673567-7673567 12
21 COSM87906219 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 12
22 COSM105633282 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>G p.K132E 17:7675218-7675218 12
23 COSM93229090 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 12
24 COSM145024780 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.611T>C p.M204T 17:7674235-7674235 12
25 COSM121884328 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.332T>C p.M111T 17:7674235-7674235 12
26 COSM121878773 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.241C>T p.R81* 17:7674894-7674894 12
27 COSM105622516 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 12
28 COSM143386796 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.134A>G p.E45G 17:7674920-7674920 12
29 COSM93183281 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 12
30 COSM112446896 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.739A>G p.N247D 17:7674224-7674224 12
31 COSM122105750 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.272C>G p.P91R 17:7674863-7674863 12
32 COSM142838784 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.637C>T p.R213* 17:7674894-7674894 12
33 COSM143984574 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>C p.K132Q 17:7673749-7673749 12
34 COSM143946062 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.160C>T p.R54* 17:7674894-7674894 12
35 COSM143943565 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.47G>A p.R16H 17:7675088-7675088 12
36 COSM144320480 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.277A>G p.K93E 17:7675218-7675218 12
37 COSM144651337 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.616G>A p.G206S 17:7674230-7674230 12
38 COSM145221104 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.551C>G p.P184R 17:7674863-7674863 12
39 COSM144120969 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.394A>C p.K132Q 17:7673749-7673749 12
40 COSM122781709 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.475A>C p.K159Q 17:7673749-7673749 12
41 COSM112253106 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.818G>A p.R273H 17:7673802-7673802 12
42 COSM111802670 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 12
43 COSM88149182 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.668C>G p.P223R 17:7674863-7674863 12
44 COSM142570943 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.844A>T p.K282* 17:7673567-7673567 12
45 COSM105620276 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 12
46 COSM142837352 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.743G>A p.R248Q 17:7674220-7674220 12
47 COSM106059837 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.728T>C p.M243T 17:7674235-7674235 12
48 COSM87949760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.871A>C p.K291Q 17:7673749-7673749 12
49 COSM143413354 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.754A>C p.K252Q 17:7673749-7673749 12
50 COSM144182541 TP53 soft tissue,striated muscle,rhabdomyosarcoma,NS c.706A>G p.N236D 17:7674224-7674224 12

Copy number variations for Li-Fraumeni Syndrome from CNVD:

7
# 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 KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Cell cycle hsa04110
3 p53 signaling pathway hsa04115
4 Apoptosis hsa04210
5 Wnt signaling pathway hsa04310
6 Pathways in cancer hsa05200

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

(show top 50) (show all 86)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 TP53 RB1 PTEN MDM2 EGFR CHEK2
2
Show member pathways
13.9 TP53 PTEN MLH1 MDM2 EGFR CHEK2
3
Show member pathways
13.58 WRAP53 TP53 RB1 MLH1 MDM2 CHEK2
4
Show member pathways
13.34 XPC TP53 MSH6 MLH1 CHEK2 CHEK1
5
Show member pathways
13.19 TP53 RB1 MDM2 CDKN2A CDKN1A ATM
6
Show member pathways
13.13 TP53 RB1 PTEN MDM2 EGFR CDKN1A
7
Show member pathways
13.12 TP53 PTEN MLH1 MDM2 CHEK2 CHEK1
8
Show member pathways
13.08 TP53 RB1 MDM2 EGFR CHEK1 CDKN2A
9 12.98 TP53 RB1 PTEN MSH6 MLH1 MDM2
10
Show member pathways
12.94 TP53 RB1 PTEN MLH1 EGFR CDKN2A
11
Show member pathways
12.94 TP53 RB1 PTEN MSH6 MLH1 MDM2
12
Show member pathways
12.85 XPC TP53 MSH6 MLH1 CHEK2 BRCA2
13
Show member pathways
12.82 XPC TP53 RB1 MSH6 MDM2 CHEK2
14
Show member pathways
12.79 TP53 PTEN MDM2 EGFR CDKN1A
15
Show member pathways
12.78 TP53 MDM2 CHEK2 CHEK1 CDKN1A BRCA1
16
Show member pathways
12.77 TP53 MDM2 CDKN2A CDKN1A ATM
17
Show member pathways
12.75 TP53 RB1 PTEN MSH6 MDM2 EGFR
18 12.72 TP53 PTEN MDM2 EGFR CDKN2A CDKN1A
19
Show member pathways
12.7 TP53 RB1 MDM2 CDKN2A CDKN1A ATM
20
Show member pathways
12.66 XPC TP53 MDM2 CDKN2A BRCA1
21
Show member pathways
12.59 TP53 PTEN MDM2 EGFR CDKN1A
22
Show member pathways
12.59 TP53 MDM2 EGFR CHEK2 CHEK1 ATM
23 12.55 TP53 RB1 MDM2 CHEK2 CHEK1 CDKN2A
24 12.52 TP53 RB1 PTEN CHEK2 CHEK1 CDKN2A
25
Show member pathways
12.47 TP53 RB1 CDKN2A CDKN1A ATM
26
Show member pathways
12.47 TP53 PTEN MDM2 EGFR CDKN1A CAV1
27 12.46 TP53 RB1 MDM2 CHEK1 CDKN2A CDKN1A
28 12.45 TP53 MDM2 EGFR ATM
29
Show member pathways
12.44 TP53 PTEN MDM2 CDKN1A
30
Show member pathways
12.42 TP53 CHEK2 BRCA1 ATM
31 12.42 TP53 MDM2 EGFR CDKN1A CAV1
32
Show member pathways
12.42 TP53 RB1 PTEN MDM2 CHEK2 CHEK1
33
Show member pathways
12.41 TP53 RB1 CDKN1A ATM
34
Show member pathways
12.4 TP53 PTEN MDM2 EGFR
35
Show member pathways
12.39 TP53 RB1 PTEN MDM2 CHEK2 CHEK1
36
Show member pathways
12.36 TP53 RB1 PTEN MDM2 EGFR CDKN1A
37
Show member pathways
12.35 CHEK1 BRCA2 BRCA1 ATM
38 12.33 TP53 MDM2 CDKN1A ATM
39 12.32 TP53 MSH6 MLH1 EGFR CDKN1A
40 12.28 TP53 RB1 PTEN MDM2 CHEK2 CHEK1
41
Show member pathways
12.23 PTEN MDM2 EGFR CDKN1A ATM
42 12.23 TP53 RB1 PTEN MLH1 MDM2 EGFR
43 12.18 TP53 PTEN MDM2 CDKN2A CDKN1A ATM
44 12.16 TP53 RB1 PTEN MDM2 EGFR CDKN2A
45 12.14 TP53 RB1 PTEN MDM2 CDKN2A CDKN1A
46
Show member pathways
12.12 CHEK2 CHEK1 CDKN2A CDKN1A BRCA1
47 12.05 TP53 RB1 MSH6 MDM2 CHEK1 CDKN1A
48 12.04 RB1 PTEN MDM2 EGFR CDKN1A CAV1
49
Show member pathways
12.01 TP53 MDM2 CHEK2 CHEK1 CDKN1A BRCA1
50 11.98 TP53 RB1 PTEN CDKN1A

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 nucleus GO:0005634 10.27 XPC WRAP53 TP53 RB1 PTEN MSH6
2 nucleoplasm GO:0005654 9.83 XPC WRAP53 TP53 RB1 PTEN MSH6
3 nuclear body GO:0016604 9.8 WRAP53 TP53 MDM2 CDKN2A CDKN1A BRCA1
4 chromosome GO:0005694 9.8 XPC WRAP53 MSH6 MLH1 CHEK1 BRCA2
5 PML body GO:0016605 9.71 TP53 RB1 PTEN CHEK2
6 condensed nuclear chromosome GO:0000794 9.61 MLH1 CHEK1 BRCA1
7 chromosome, telomeric region GO:0000781 9.55 WRAP53 CHEK2 CHEK1 BRCA2 ATM
8 mismatch repair complex GO:0032300 9.46 MSH6 MLH1
9 protein-containing complex GO:0032991 9.28 TP53 MDM2 EGFR CHEK1 CDKN2A CDKN1A

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.25 TP53 RB1 MDM2 EGFR CDKN2A BRCA1
2 phosphorylation GO:0016310 10.17 EGFR CHEK2 CHEK1 CDKN2A CDKN1A ATM
3 positive regulation of transcription, DNA-templated GO:0045893 10.16 XPC TP53 EGFR CHEK2 CDKN2A BRCA2
4 apoptotic process GO:0006915 10.13 TP53 RB1 PTEN MDM2 CHEK2 CHEK1
5 viral process GO:0016032 10.1 WRAP53 TP53 RB1 MSH6 MDM2 EGFR
6 negative regulation of cell proliferation GO:0008285 10.09 TP53 RB1 PTEN CDKN2A CDKN1A CAV1
7 positive regulation of gene expression GO:0010628 10.08 TP53 PTEN MDM2 CDKN2A CAV1 BRCA1
8 response to drug GO:0042493 10.07 XPC TP53 PTEN MDM2 CDKN1A
9 cell cycle GO:0007049 10.07 TP53 RB1 MLH1 CHEK2 CHEK1 CDKN2A
10 heart development GO:0007507 10.02 TP53 PTEN MDM2 CDKN1A ATM
11 protein stabilization GO:0050821 9.99 TP53 PTEN CHEK2 CDKN2A CDKN1A
12 response to organic cyclic compound GO:0014070 9.97 PTEN IDH1 EGFR CDKN1A
13 DNA repair GO:0006281 9.97 XPC WRAP53 MSH6 MLH1 CHEK2 CHEK1
14 negative regulation of cell growth GO:0030308 9.96 TP53 RB1 CDKN2A CDKN1A
15 regulation of cell cycle GO:0051726 9.95 TP53 RB1 PTEN CDKN1A ATM
16 cell cycle arrest GO:0007050 9.92 TP53 RB1 CDKN2A CDKN1A ATM
17 regulation of signal transduction by p53 class mediator GO:1901796 9.91 TP53 MDM2 CHEK2 CHEK1 BRCA1 ATM
18 double-strand break repair via homologous recombination GO:0000724 9.89 BRCA2 BRCA1 ATM
19 double-strand break repair via nonhomologous end joining GO:0006303 9.89 MLH1 BRCA1 ATM
20 cellular response to drug GO:0035690 9.88 TP53 EGFR CHEK2
21 Ras protein signal transduction GO:0007265 9.88 TP53 RB1 CDKN2A CDKN1A
22 double-strand break repair GO:0006302 9.88 TP53 CHEK2 BRCA2 BRCA1
23 response to UV GO:0009411 9.87 TP53 MSH6 CDKN1A
24 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.87 RB1 PTEN CDKN2A CDKN1A
25 nucleotide-excision repair GO:0006289 9.86 XPC TP53 BRCA2
26 neuron apoptotic process GO:0051402 9.85 TP53 RB1 ATM
27 negative regulation of mitotic cell cycle GO:0045930 9.85 TP53 RB1 EGFR
28 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.85 TP53 MDM2 CHEK2 CDKN1A ATM
29 DNA damage checkpoint GO:0000077 9.84 CHEK2 CHEK1 ATM
30 positive regulation of DNA repair GO:0045739 9.83 WRAP53 EGFR BRCA1
31 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.83 PTEN CDKN2A CDKN1A
32 mismatch repair GO:0006298 9.82 XPC MSH6 MLH1
33 positive regulation of cell cycle arrest GO:0071158 9.82 TP53 CDKN2A BRCA1
34 intrinsic apoptotic signaling pathway GO:0097193 9.81 TP53 MSH6 CDKN1A
35 response to gamma radiation GO:0010332 9.81 TP53 CHEK2 BRCA2
36 female gonad development GO:0008585 9.8 IDH1 BRCA2 ATM
37 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.8 TP53 CHEK2 CDKN1A BRCA2
38 cellular response to gamma radiation GO:0071480 9.8 TP53 MDM2 CHEK2 CDKN1A ATM
39 response to X-ray GO:0010165 9.78 TP53 CDKN1A BRCA2
40 determination of adult lifespan GO:0008340 9.77 TP53 MSH6 ATM
41 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.73 MSH6 MLH1 CHEK2 BRCA2 BRCA1 ATM
42 amyloid fibril formation GO:1990000 9.72 MDM2 CDKN2A
43 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.72 TP53 EGFR
44 response to arsenic-containing substance GO:0046685 9.72 PTEN CDKN1A
45 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.71 CHEK1 BRCA1
46 meiotic telomere clustering GO:0045141 9.71 MLH1 ATM
47 cellular response to UV-C GO:0071494 9.7 TP53 MDM2
48 mitotic G2/M transition checkpoint GO:0044818 9.7 CHEK1 BRCA1
49 cellular response to DNA damage stimulus GO:0006974 9.7 XPC WRAP53 TP53 MSH6 MLH1 CHEK2
50 signal transduction by p53 class mediator GO:0072331 9.69 TP53 CDKN1A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.93 WRAP53 TP53 RB1 PTEN MDM2 IDH1
2 kinase activity GO:0016301 9.91 EGFR CHEK2 CHEK1 CDKN2A CDKN1A ATM
3 protein kinase binding GO:0019901 9.87 TP53 PTEN EGFR CHEK2 CDKN2A CDKN1A
4 protein-containing complex binding GO:0044877 9.85 XPC WRAP53 EGFR CDKN1A CAV1 ATM
5 p53 binding GO:0002039 9.65 TP53 MDM2 CDKN2A
6 damaged DNA binding GO:0003684 9.63 XPC MSH6 BRCA1
7 disordered domain specific binding GO:0097718 9.56 TP53 RB1 MDM2 CDKN2A
8 ubiquitin protein ligase binding GO:0031625 9.56 WRAP53 TP53 RB1 MDM2 EGFR CHEK2
9 mismatched DNA binding GO:0030983 9.52 MSH6 MLH1
10 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.51 CDKN2A CDKN1A
11 MDM2/MDM4 family protein binding GO:0097371 9.49 TP53 CDKN2A
12 guanine/thymine mispair binding GO:0032137 9.4 MSH6 MLH1
13 enzyme binding GO:0019899 9.28 TP53 RB1 PTEN MSH6 MLH1 MDM2

Sources for Li-Fraumeni Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....