LFS2
MCID: LFR007
MIFTS: 41

Li-Fraumeni Syndrome 2 (LFS2)

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

Aliases & Classifications for Li-Fraumeni Syndrome 2

MalaCards integrated aliases for Li-Fraumeni Syndrome 2:

Name: Li-Fraumeni Syndrome 2 57 74 29 6 72
Li-Fraumeni Syndrome 57 72
Lfs2 57 74
Li-Fraumeni Syndrome, Type 2 40

Characteristics:

HPO:

32
li-fraumeni syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MedGen 42 C1836482
UMLS 72 C0085390 C1836482

Summaries for Li-Fraumeni Syndrome 2

UniProtKB/Swiss-Prot : 74 Li-Fraumeni syndrome 2: A highly penetrant 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 (PubMed:8118819 and PubMed:8718514) 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.

MalaCards based summary : Li-Fraumeni Syndrome 2, also known as li-fraumeni syndrome, is related to li-fraumeni syndrome and adrenocortical carcinoma, hereditary. An important gene associated with Li-Fraumeni Syndrome 2 is CHEK2 (Checkpoint Kinase 2). The drugs Cetuximab and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and brain, and related phenotypes are sarcoma and glioma

More information from OMIM: 609265 PS151623

Related Diseases for Li-Fraumeni Syndrome 2

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2

Diseases related to Li-Fraumeni Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 13.3
2 adrenocortical carcinoma, hereditary 12.0
3 gastric cancer 12.0
4 soft tissue sarcoma 11.8
5 medulloblastoma 11.8
6 glioblastoma 11.8
7 adrenal carcinoma 11.8
8 pilocytic astrocytoma 11.5
9 osteogenic sarcoma 10.8
10 adrenal cortical carcinoma 10.8
11 adrenal cortical adenocarcinoma 10.8
12 rhabdomyosarcoma 10.7
13 choroid plexus cancer 10.7
14 leiomyosarcoma 10.6
15 brain cancer 10.6
16 liposarcoma 10.6
17 bilateral breast cancer 10.6
18 leukemia 10.5
19 breast cancer 10.5
20 colorectal cancer 10.5
21 lymphocytic leukemia 10.5
22 sarcoma 10.5
23 lung cancer susceptibility 3 10.5
24 myelodysplastic syndrome 10.5
25 adenocarcinoma 10.5
26 glioblastoma multiforme 10.5
27 spindle cell sarcoma 10.5
28 thyroid carcinoma 10.5
29 leukemia, acute lymphoblastic 10.4
30 breast sarcoma 10.4
31 astrocytoma 10.4
32 embryonal rhabdomyosarcoma 10.4
33 gastric cancer, hereditary diffuse 10.4
34 ovarian cancer 10.4
35 prostate cancer 10.4
36 leukemia, acute myeloid 10.4
37 accelerated tumor formation 10.4
38 angiosarcoma 10.4
39 familial adenomatous polyposis 10.4
40 melanoma 10.4
41 lynch syndrome 10.4
42 myeloid leukemia 10.4
43 hepatocellular carcinoma 10.3
44 renal cell carcinoma, nonpapillary 10.3
45 von hippel-lindau syndrome 10.3
46 ataxia-telangiectasia 10.3
47 lung cancer 10.3
48 papilloma of choroid plexus 10.3
49 xeroderma pigmentosum, variant type 10.3
50 ataxia and polyneuropathy, adult-onset 10.3

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome 2:



Diseases related to Li-Fraumeni Syndrome 2

Symptoms & Phenotypes for Li-Fraumeni Syndrome 2

Human phenotypes related to Li-Fraumeni Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 sarcoma 32 HP:0100242
2 glioma 32 HP:0009733
3 breast carcinoma 32 HP:0003002
4 meningioma 32 HP:0002858
5 stomach cancer 32 HP:0012126

Clinical features from OMIM:

609265

Drugs & Therapeutics for Li-Fraumeni Syndrome 2

Drugs for Li-Fraumeni Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
4
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
6
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
7 Antineoplastic Agents, Immunological Phase 2
8 Micronutrients Phase 1, Phase 2
9 Trace Elements Phase 1, Phase 2
10 Lipid Regulating Agents Phase 1, Phase 2
11 Vitamins Phase 1, Phase 2
12 Folate Phase 1, Phase 2
13 Vitamin B9 Phase 1, Phase 2
14 Vitamin B3 Phase 1, Phase 2
15 Vitamin B Complex Phase 1, Phase 2
16 Nutrients Phase 1, Phase 2
17 Nicotinic Acids Phase 1, Phase 2
18 Hypolipidemic Agents Phase 1, Phase 2
19 Vasodilator Agents Phase 1, Phase 2
20 Antimetabolites Phase 1, Phase 2
21
Phosphocreatine Nutraceutical Phase 1, Phase 2 67-07-2 587
22
Metformin Approved Phase 1 657-24-9 4091 14219
23 Hypoglycemic Agents Phase 1
24 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) Unknown status NCT01464086 Phase 3
2 Phase II Trial of Cetuximab in Patients With Metastatic and/or Locally Advanced Soft Tissue and Bony Sarcomas Completed NCT00148109 Phase 2 Cetuximab;Cetuximab
3 Exploratory Study of Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome Recruiting NCT03789175 Phase 1, Phase 2
4 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
5 Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting Unknown status NCT02289326
6 Magnetic Resonance Imaging Screening In Li Fraumeni Syndrome: An Exploratory Whole Body MRI Study Completed NCT01737255
7 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
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, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome Recruiting NCT01443468
10 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
11 Cardiovascular Disease Discovery Protocol Recruiting NCT01143454
12 International Pediatric Adrenocortical Tumor Registry Recruiting NCT00700414
13 Natural History and Biospecimen Acquisition Study for Children and Adults With Rare Solid Tumors Recruiting NCT03739827
14 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
15 Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study. Enrolling by invitation NCT03176836
16 Metabolic Regulation by Tumor Suppressor p53 in Li-Fraumeni Syndrome Enrolling by invitation NCT00406445

Search NIH Clinical Center for Li-Fraumeni Syndrome 2

Genetic Tests for Li-Fraumeni Syndrome 2

Genetic tests related to Li-Fraumeni Syndrome 2:

# Genetic test Affiliating Genes
1 Li-Fraumeni Syndrome 2 29 CHEK2

Anatomical Context for Li-Fraumeni Syndrome 2

MalaCards organs/tissues related to Li-Fraumeni Syndrome 2:

41
Breast, Bone, Brain, Testes, Lung, Skin, Myeloid

Publications for Li-Fraumeni Syndrome 2

Articles related to Li-Fraumeni Syndrome 2:

(show top 50) (show all 983)
# Title Authors PMID Year
1
p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. 38 8 71
11479205 2001
2
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 38 8 71
10617473 1999
3
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 38 71
12094328 2002
4
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 38 71
11719428 2001
5
Li-Fraumeni Syndrome 38 71
20301488 1999
6
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
7
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 71
17392385 2007
8
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. 71
17085682 2006
9
CHEK2 I157T associates with familial and sporadic colorectal cancer. 71
16816021 2006
10
Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. 71
16257342 2005
11
CHEK2 is a multiorgan cancer susceptibility gene. 71
15492928 2004
12
Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. 71
15466005 2004
13
CHEK2 variant I157T may be associated with increased breast cancer risk. 71
15239132 2004
14
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. 71
15122511 2004
15
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. 71
12690581 2003
16
Mutations in CHEK2 associated with prostate cancer risk. 71
12533788 2003
17
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 71
11967536 2002
18
Functional characterization of novel germline TP53 variants in Swedish families. 38
31081129 2019
19
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion. 38
30886117 2019
20
Head and neck pleomorphic myxoid liposarcoma in a child with Li-Fraumeni syndrome. 38
31129458 2019
21
A rare case of multiple cutaneous melanomas in Li-Fraumeni syndrome: A coincidental association or a component of the syndrome? 38
30809791 2019
22
Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome. 38
31212162 2019
23
Composite Adrenocortical Carcinoma and Neuroblastoma in an Infant With a TP53 Germline Mutation: A Case Report and Literature Review. 38
29746440 2019
24
Osteosarcoma in a Child Below 2 Years of Age: Case Report and Review of the Literature. 38
30303869 2019
25
Increased susceptibility to mammary carcinogenesis and an opposite trend in endometrium in Trp53 heterozygous knockout female mice by backcrossing the BALB/c strain onto the background C3H strain. 38
31404346 2019
26
Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study). 38
31041842 2019
27
Early-Onset Colorectal Cancer in Patients with Li Fraumeni Syndrome: Is It Really Enough to Justify Early Colon Cancer Screening? 38
30981786 2019
28
[Li-Fraumeni Syndrome-Current Status and Prospects in Clinical Practice]. 38
31296811 2019
29
TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling. 38
31321604 2019
30
p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients. 38
31296311 2019
31
A quantitative model to predict pathogenicity of missense variants in the TP53 gene. 38
30840781 2019
32
Hereditary myeloid malignancies. 38
31203998 2019
33
Myelodysplastic/myeloproliferative neoplasm with eosinophilia as a manifestation of Li Fraumeni Syndrome. 38
31230491 2019
34
Management of orbital rhabdomyosarcoma in a child with Li-Fraumeni syndrome. 38
30974170 2019
35
Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. 38
30974190 2019
36
Radiation-associated Angiosarcoma Mimicking Fallopian Tube High-grade Serous Carcinoma in a Woman With De Novo Li-Fraumeni Syndrome. 38
29620582 2019
37
Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome. 38
30719841 2019
38
Successful treatment of a TSC2-mutant glioblastoma with everolimus. 38
31154346 2019
39
Genotype-phenotype associations among panel-based TP53+ subjects. 38
31105275 2019
40
Osteosarcoma and second malignant neoplasms: a case series. 38
31054046 2019
41
Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil. 38
30535581 2019
42
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort. 38
30607672 2019
43
Surgery in reference centers improves survival of sarcoma patients: a nationwide study. 38
31081028 2019
44
Li-Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature. 38
30653764 2019
45
Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals. 38
30238178 2019
46
Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study. 38
30964582 2019
47
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. 38
30302652 2019
48
Mitochondrial stress delays tumorigenesis in a Li-Fraumeni syndrome mouse model. 38
31225506 2019
49
Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence. 38
30591002 2019
50
Modeling malignancies using induced pluripotent stem cells: from chronic myeloid leukemia to hereditary cancers. 38
30659851 2019

Variations for Li-Fraumeni Syndrome 2

ClinVar genetic disease variations for Li-Fraumeni Syndrome 2:

6 (show all 46)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHEK2 NM_007194.4(CHEK2): c.417C> A (p.Tyr139Ter) single nucleotide variant Pathogenic rs200917541 22:29121258-29121258 22:28725270-28725270
2 CHEK2 CHEK2, 1-BP DEL, 1100C deletion Pathogenic,risk factor
3 CHEK2 CHEK2, 1-BP DEL, 1422T deletion Pathogenic
4 CHEK2 NM_007194.4(CHEK2): c.216T> G (p.Tyr72Ter) single nucleotide variant Pathogenic rs587781705 22:29130494-29130494 22:28734506-28734506
5 CHEK2 NM_007194.4(CHEK2): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs730881701 22:29121266-29121266 22:28725278-28725278
6 CHEK2 NM_007194.4(CHEK2): c.444+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs121908698 22:29121230-29121230 22:28725242-28725242
7 CHEK2 NM_007194.4(CHEK2): c.444+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs560596101 22:29121229-29121229 22:28725241-28725241
8 CHEK2 NM_007194.4(CHEK2): c.433C> T (p.Arg145Trp) single nucleotide variant Likely pathogenic rs137853007 22:29121242-29121242 22:28725254-28725254
9 CHEK2 NM_007194.4(CHEK2): c.319+2T> A single nucleotide variant Likely pathogenic rs587782401 22:29130389-29130389 22:28734401-28734401
10 CHEK2 NM_007194.4(CHEK2): c.707T> C (p.Leu236Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs587782471 22:29107982-29107982 22:28711994-28711994
11 CHEK2 NM_007194.4(CHEK2): c.1510G> C (p.Glu504Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587782489 22:29085155-29085155 22:28689167-28689167
12 CHEK2 NM_007194.4(CHEK2): c.1100del (p.Thr367fs) deletion Conflicting interpretations of pathogenicity rs555607708 22:29091857-29091857 22:28695869-28695869
13 CHEK2 NM_007194.4(CHEK2): c.1534C> G (p.Leu512Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17882942 22:29085131-29085131 22:28689143-28689143
14 CHEK2 NM_007194.4(CHEK2): c.556A> C (p.Asn186His) single nucleotide variant Conflicting interpretations of pathogenicity rs146198085 22:29121001-29121001 22:28725013-28725013
15 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs17879961 22:29121087-29121087 22:28725099-28725099
16 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs137853011 22:29091207-29091207 22:28695219-28695219
17 CHEK2 NM_007194.4(CHEK2): c.1215C> A (p.Asn405Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587780171 22:29091742-29091742 22:28695754-28695754
18 CHEK2 NM_007194.4(CHEK2): c.1270T> C (p.Tyr424His) single nucleotide variant Conflicting interpretations of pathogenicity rs139366548 22:29091220-29091220 22:28695232-28695232
19 CHEK2 NM_007194.4(CHEK2): c.1312G> T (p.Asp438Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs200050883 22:29091178-29091178 22:28695190-28695190
20 CHEK2 NM_007194.4(CHEK2): c.1420C> T (p.Arg474Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs540635787 22:29090061-29090061 22:28694073-28694073
21 CHEK2 NM_007194.4(CHEK2): c.1525C> T (p.Pro509Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780179 22:29085140-29085140 22:28689152-28689152
22 CHEK2 NM_007194.4(CHEK2): c.755G> A (p.Ser252Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs587781379 22:29107934-29107934 22:28711946-28711946
23 CHEK2 NM_007194.4(CHEK2): c.1451C> T (p.Pro484Leu) single nucleotide variant Uncertain significance rs564605612 22:29090030-29090030 22:28694042-28694042
24 CHEK2 NM_007194.4(CHEK2): c.1141A> G (p.Met381Val) single nucleotide variant Uncertain significance rs375130261 22:29091816-29091816 22:28695828-28695828
25 CHEK2 NM_007194.4(CHEK2): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs587780180 22:29083961-29083961 22:28687973-28687973
26 CHEK2 NM_007194.4(CHEK2): c.400G> C (p.Asp134His) single nucleotide variant Uncertain significance rs372874441 22:29121275-29121275 22:28725287-28725287
27 CHEK2 NM_007194.4(CHEK2): c.1336A> G (p.Asn446Asp) single nucleotide variant Uncertain significance rs121908705 22:29091154-29091154 22:28695166-28695166
28 CHEK2 NM_007194.4(CHEK2): c.1111C> T (p.His371Tyr) single nucleotide variant Uncertain significance rs531398630 22:29091846-29091846 22:28695858-28695858
29 CHEK2 NM_007194.4(CHEK2): c.542G> A (p.Arg181His) single nucleotide variant Uncertain significance rs121908701 22:29121015-29121015 22:28725027-28725027
30 CHEK2 NM_007194.4(CHEK2): c.715G> A (p.Glu239Lys) single nucleotide variant Uncertain significance rs121908702 22:29107974-29107974 22:28711986-28711986
31 CHEK2 NM_007194.4(CHEK2): c.436A> C (p.Ile146Leu) single nucleotide variant Uncertain significance rs781678896 22:29121239-29121239 22:28725251-28725251
32 CHEK2 NM_007194.4(CHEK2): c.937G> A (p.Val313Met) single nucleotide variant Uncertain significance rs752302543 22:29095897-29095897 22:28699909-28699909
33 CHEK2 NM_007194.4(CHEK2): c.1376-13A> G single nucleotide variant Uncertain significance rs1064793330 22:29090118-29090118 22:28694130-28694130
34 CHEK2 NM_007194.4(CHEK2): c.967A> C (p.Thr323Pro) single nucleotide variant Uncertain significance rs750984976 22:29095867-29095867 22:28699879-28699879
35 CHEK2 NM_007194.4(CHEK2): c.176C> A (p.Thr59Lys) single nucleotide variant Uncertain significance rs149991239 22:29130534-29130534 22:28734546-28734546
36 CHEK2 NM_007194.4(CHEK2): c.1036C> T (p.Arg346Cys) single nucleotide variant Uncertain significance rs201206424 22:29092948-29092948 22:28696960-28696960
37 CHEK2 NM_007194.4(CHEK2): c.1133C> T (p.Thr378Ile) single nucleotide variant Uncertain significance rs587780167 22:29091824-29091824 22:28695836-28695836
38 CHEK2 NM_007194.4(CHEK2): c.980A> G (p.Tyr327Cys) single nucleotide variant Uncertain significance rs587780194 22:29095854-29095854 22:28699866-28699866
39 CHEK2 NM_007194.4(CHEK2): c.157T> A (p.Ser53Thr) single nucleotide variant Uncertain significance rs371657037 22:29130553-29130553 22:28734565-28734565
40 CHEK2 NM_007194.4(CHEK2): c.1216C> T (p.Arg406Cys) single nucleotide variant Uncertain significance rs587782527 22:29091741-29091741 22:28695753-28695753
41 CHEK2 NM_007194.4(CHEK2): c.1178C> T (p.Pro393Leu) single nucleotide variant Uncertain significance rs730881690 22:29091779-29091779 22:28695791-28695791
42 CHEK2 NM_007194.4(CHEK2): c.1024G> A (p.Gly342Ser) single nucleotide variant Uncertain significance rs730881705 22:29092960-29092960 22:28696972-28696972
43 CHEK2 NM_007194.4(CHEK2): c.170C> T (p.Ser57Phe) single nucleotide variant Uncertain significance rs730881695 22:29130540-29130540 22:28734552-28734552
44 CHEK2 NM_007194.4(CHEK2): c.742A> G (p.Ile248Val) single nucleotide variant Uncertain significance rs779457035 22:29107947-29107947 22:28711959-28711959
45 CHEK2 NM_007194.4(CHEK2): c.1375+3A> G single nucleotide variant Uncertain significance rs876659868 22:29091112-29091112 22:28695124-28695124
46 CHEK2 NM_007194.4(CHEK2): c.1078G> A (p.Glu360Lys) single nucleotide variant Uncertain significance rs876658337 22:29092906-29092906 22:28696918-28696918

UniProtKB/Swiss-Prot genetic disease variations for Li-Fraumeni Syndrome 2:

74
# Symbol AA change Variation ID SNP ID
1 CHEK2 p.Arg145Trp VAR_008554 rs137853007

Cosmic variations for Li-Fraumeni Syndrome 2:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6954017 NOTCH2 soft tissue,breast,sarcoma,NS c.1145A>G p.N382S 1:119968196-119968196 3
2 COSM1732355 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
3 COSM3908208 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
4 COSM3908209 soft tissue,bone,sarcoma,NS c.355C>T p.R119* 9:77815650-77815650 3

Expression for Li-Fraumeni Syndrome 2

Search GEO for disease gene expression data for Li-Fraumeni Syndrome 2.

Pathways for Li-Fraumeni Syndrome 2

GO Terms for Li-Fraumeni Syndrome 2

Sources for Li-Fraumeni Syndrome 2

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