LFS2
MCID: LFR007
MIFTS: 42

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 56 12 73 29 6 71
Lfs2 56 12 73
Li-Fraumeni Syndrome 56 71
Li-Fraumeni Syndrome, Type 2 39

Characteristics:

HPO:

31
li-fraumeni syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111504
OMIM 56 609265
OMIM Phenotypic Series 56 PS151623
MedGen 41 C1836482
UMLS 71 C0085390 C1836482

Summaries for Li-Fraumeni Syndrome 2

UniProtKB/Swiss-Prot : 73 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 lfs2, is related to li-fraumeni syndrome and li-fraumeni syndrome 1. An important gene associated with Li-Fraumeni Syndrome 2 is CHEK2 (Checkpoint Kinase 2). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and brain, and related phenotypes are sarcoma and glioma

Disease Ontology : 12 A Li-Fraumeni syndrome that has material basis in heterozygous mutation in CHEK2 on chromosome 22q12.1.

More information from OMIM: 609265 PS151623

Related Diseases for Li-Fraumeni Syndrome 2

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2 Li-Fraumeni Syndrome 1

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

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 13.3
2 li-fraumeni syndrome 1 12.9
3 adrenocortical carcinoma, hereditary 12.0
4 gastric cancer 12.0
5 soft tissue sarcoma 11.8
6 medulloblastoma 11.8
7 glioblastoma multiforme 11.8
8 adrenal carcinoma 11.8
9 juvenile pilocytic astrocytoma 11.5
10 osteogenic sarcoma 10.8
11 adrenal cortical carcinoma 10.8
12 adrenal cortical adenocarcinoma 10.8
13 rhabdomyosarcoma 10.7
14 choroid plexus cancer 10.7
15 leiomyosarcoma 10.6
16 liposarcoma 10.6
17 brain cancer 10.6
18 bilateral breast cancer 10.6
19 lymphocytic leukemia 10.5
20 breast cancer 10.5
21 sarcoma 10.5
22 leukemia 10.5
23 colorectal cancer 10.5
24 lung cancer susceptibility 3 10.5
25 myelodysplastic syndrome 10.5
26 adenocarcinoma 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 papilloma of choroid plexus 10.4
37 leukemia, acute myeloid 10.4
38 myxoid liposarcoma 10.4
39 tumor predisposition syndrome 10.4
40 accelerated tumor formation 10.4
41 angiosarcoma 10.4
42 familial adenomatous polyposis 10.4
43 squamous cell papilloma 10.4
44 papilloma 10.4
45 lynch syndrome 10.4
46 b-cell lymphoma 10.4
47 myeloid leukemia 10.4
48 in situ carcinoma 10.4
49 hepatocellular carcinoma 10.3
50 renal cell carcinoma, nonpapillary 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:

31
# Description HPO Frequency HPO Source Accession
1 sarcoma 31 HP:0100242
2 glioma 31 HP:0009733
3 breast carcinoma 31 HP:0003002
4 meningioma 31 HP:0002858
5 stomach cancer 31 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
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
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
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 Vitamins Phase 1, Phase 2
8 Trace Elements Phase 1, Phase 2
9 Micronutrients Phase 1, Phase 2
10 Vitamin B Complex Phase 1, Phase 2
11 Hypolipidemic Agents Phase 1, Phase 2
12 Vitamin B3 Phase 1, Phase 2
13 Nutrients Phase 1, Phase 2
14 Vasodilator Agents Phase 1, Phase 2
15 Vitamin B9 Phase 1, Phase 2
16 Folate Phase 1, Phase 2
17 Lipid Regulating Agents Phase 1, Phase 2
18 Antimetabolites Phase 1, Phase 2
19 Nicotinic Acids Phase 1, Phase 2
20 Antineoplastic Agents, Immunological Phase 2
21
Phosphocreatine Nutraceutical Phase 1, Phase 2 67-07-2 587
22
Metformin Approved Phase 1 657-24-9 14219 4091
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 Exploratory Study of Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome Completed NCT03789175 Phase 1, Phase 2
3 Phase II Trial of Cetuximab in Patients With Metastatic and/or Locally Advanced Soft Tissue and Bony Sarcomas Completed NCT00148109 Phase 2 Cetuximab;Cetuximab
4 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
5 Magnetic Resonance Imaging Screening In Li Fraumeni Syndrome: An Exploratory Whole Body MRI Study Completed NCT01737255
6 Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting Completed NCT02289326
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:

40
Breast, Bone, Brain, Lung, Testes, Skin, Myeloid

Publications for Li-Fraumeni Syndrome 2

Articles related to Li-Fraumeni Syndrome 2:

(show top 50) (show all 1016)
# 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. 61 56 6
11479205 2001
2
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 61 56 6
10617473 1999
3
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 61 6
12094328 2002
4
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 61 6
11719428 2001
5
Li-Fraumeni Syndrome 61 6
20301488 1999
6
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
7
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 6
17392385 2007
8
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. 6
17085682 2006
9
CHEK2 I157T associates with familial and sporadic colorectal cancer. 6
16816021 2006
10
Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. 6
16257342 2005
11
CHEK2 is a multiorgan cancer susceptibility gene. 6
15492928 2004
12
Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. 6
15466005 2004
13
CHEK2 variant I157T may be associated with increased breast cancer risk. 6
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. 6
15122511 2004
15
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. 6
12690581 2003
16
Mutations in CHEK2 associated with prostate cancer risk. 6
12533788 2003
17
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 6
11967536 2002
18
Genetics of Common Pediatric Brain Tumors. 61
31948735 2020
19
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53. 61
31898864 2020
20
BRCA and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes. 61
32031911 2020
21
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically. 61
31490007 2020
22
An update on the CNS manifestations of brain tumor polyposis syndromes. 61
31970492 2020
23
RBL1 (p107) functions as tumor suppressor in glioblastoma and small-cell pancreatic neuroendocrine carcinoma in Xenopus tropicalis. 61
32001819 2020
24
The Brazilian TP53 mutation (R337H) and sarcomas. 61
31978118 2020
25
Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature. 61
31915049 2020
26
Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome. 61
31976063 2020
27
Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome. 61
31897644 2020
28
Withdrawal: Hsp90 and PKM2 drive the expression of aromatase in Li-Fraumeni syndrome breast adipose stromal cells. 61
31900372 2020
29
Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts. 61
31719101 2020
30
Penetrance Estimates Over Time to First and Second Primary Cancer Diagnosis in Families with Li-Fraumeni Syndrome: A Single Institution Perspective. 61
31719099 2020
31
Health professionals' practice for young people with, or at risk of, Li-Fraumeni syndrome: An Australasian survey. 61
31872506 2019
32
Myelodysplastic/myeloproliferative neoplasm with eosinophilia as a manifestation of Li Fraumeni Syndrome. 61
31230491 2019
33
Li Fraumeni syndrome. 61
30709544 2019
34
Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793. 61
31764755 2019
35
Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793. 61
31764758 2019
36
Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing. 61
31881331 2019
37
Osteosarcoma and second malignant neoplasms: a case series. 61
31054046 2019
38
Tissue-specific microRNA expression alters cancer susceptibility conferred by a TP53 noncoding variant. 61
31699989 2019
39
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY). 61
31719169 2019
40
Li-Fraumeni syndrome heterogeneity. 61
31691207 2019
41
[Update on Li-Fraumeni syndrome]. 61
31511974 2019
42
Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome). 61
31748977 2019
43
Genotype-phenotype associations among panel-based TP53+ subjects. 61
31105275 2019
44
Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations. 61
31647118 2019
45
TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling. 61
31321604 2019
46
Functional characterization of novel germline TP53 variants in Swedish families. 61
31081129 2019
47
Li-Fraumeni syndrome presenting as precursor B lymphoblastic leukemia mimicking intravascular large B-cell lymphoma. 61
31537539 2019
48
Recurrent Pleomorphic Myxoid Liposarcoma in a Patient With Li-Fraumeni Syndrome. 61
31559875 2019
49
Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. 61
31533767 2019
50
Head and neck pleomorphic myxoid liposarcoma in a child with Li-Fraumeni syndrome. 61
31129458 2019

Variations for Li-Fraumeni Syndrome 2

ClinVar genetic disease variations for Li-Fraumeni Syndrome 2:

6 (show all 46) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHEK2 NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)SNV Pathogenic 182452 rs730881701 22:29121266-29121266 22:28725278-28725278
2 CHEK2 CHEK2, 1-BP DEL, 1100Cdeletion Pathogenic,risk factor 5590
3 CHEK2 CHEK2, 1-BP DEL, 1422Tdeletion Pathogenic 5593
4 CHEK2 NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)SNV Pathogenic 141381 rs587781705 22:29130494-29130494 22:28734506-28734506
5 CHEK2 NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)SNV Pathogenic 439092 rs200917541 22:29121258-29121258 22:28725270-28725270
6 CHEK2 NM_007194.4(CHEK2):c.444+2T>CSNV Pathogenic/Likely pathogenic 422638 rs560596101 22:29121229-29121229 22:28725241-28725241
7 CHEK2 NM_007194.4(CHEK2):c.444+1G>ASNV Pathogenic/Likely pathogenic 128075 rs121908698 22:29121230-29121230 22:28725242-28725242
8 CHEK2 NM_007194.4(CHEK2):c.319+2T>ASNV Likely pathogenic 142352 rs587782401 22:29130389-29130389 22:28734401-28734401
9 CHEK2 NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)SNV Likely pathogenic 5592 rs137853007 22:29121242-29121242 22:28725254-28725254
10 CHEK2 NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)SNV Conflicting interpretations of pathogenicity 142448 rs587782471 22:29107982-29107982 22:28711994-28711994
11 CHEK2 NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)SNV Conflicting interpretations of pathogenicity 142479 rs587782489 22:29085155-29085155 22:28689167-28689167
12 CHEK2 NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)SNV Conflicting interpretations of pathogenicity 140932 rs587781379 22:29107934-29107934 22:28711946-28711946
13 CHEK2 NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)SNV Conflicting interpretations of pathogenicity 141856 rs17882942 22:29085131-29085131 22:28689143-28689143
14 CHEK2 NM_007194.4(CHEK2):c.556A>C (p.Asn186His)SNV Conflicting interpretations of pathogenicity 141977 rs146198085 22:29121001-29121001 22:28725013-28725013
15 CHEK2 NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)SNV Conflicting interpretations of pathogenicity 5591 rs17879961 22:29121087-29121087 22:28725099-28725099
16 CHEK2 NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)SNV Conflicting interpretations of pathogenicity 5603 rs137853011 22:29091207-29091207 22:28695219-28695219
17 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs)deletion Conflicting interpretations of pathogenicity 128042 rs555607708 22:29091857-29091857 22:28695869-28695869
18 CHEK2 NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)SNV Conflicting interpretations of pathogenicity 128050 rs587780171 22:29091742-29091742 22:28695754-28695754
19 CHEK2 NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)SNV Conflicting interpretations of pathogenicity 128054 rs139366548 22:29091220-29091220 22:28695232-28695232
20 CHEK2 NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)SNV Conflicting interpretations of pathogenicity 128056 rs200050883 22:29091178-29091178 22:28695190-28695190
21 CHEK2 NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)SNV Conflicting interpretations of pathogenicity 128059 rs540635787 22:29090061-29090061 22:28694073-28694073
22 CHEK2 NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)SNV Conflicting interpretations of pathogenicity 128063 rs587780179 22:29085140-29085140 22:28689152-28689152
23 CHEK2 NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)SNV Uncertain significance 128066 rs587780180 22:29083961-29083961 22:28687973-28687973
24 CHEK2 NM_007194.4(CHEK2):c.400G>C (p.Asp134His)SNV Uncertain significance 128072 rs372874441 22:29121275-29121275 22:28725287-28725287
25 CHEK2 NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)SNV Uncertain significance 128046 rs587780167 22:29091824-29091824 22:28695836-28695836
26 CHEK2 NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)SNV Uncertain significance 126909 rs121908705 22:29091154-29091154 22:28695166-28695166
27 CHEK2 NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)SNV Uncertain significance 128044 rs531398630 22:29091846-29091846 22:28695858-28695858
28 CHEK2 NM_007194.4(CHEK2):c.542G>A (p.Arg181His)SNV Uncertain significance 5598 rs121908701 22:29121015-29121015 22:28725027-28725027
29 CHEK2 NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)SNV Uncertain significance 5600 rs121908702 22:29107974-29107974 22:28711986-28711986
30 CHEK2 NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)SNV Uncertain significance 182445 rs730881695 22:29130540-29130540 22:28734552-28734552
31 CHEK2 NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)SNV Uncertain significance 216651 rs779457035 22:29107947-29107947 22:28711959-28711959
32 CHEK2 NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)SNV Uncertain significance 182435 rs730881690 22:29091779-29091779 22:28695791-28695791
33 CHEK2 NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)SNV Uncertain significance 182457 rs730881705 22:29092960-29092960 22:28696972-28696972
34 CHEK2 NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)SNV Uncertain significance 142041 rs149991239 22:29130534-29130534 22:28734546-28734546
35 CHEK2 NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)SNV Uncertain significance 142222 rs201206424 22:29092948-29092948 22:28696960-28696960
36 CHEK2 NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)SNV Uncertain significance 140938 rs564605612 22:29090030-29090030 22:28694042-28694042
37 CHEK2 NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)SNV Uncertain significance 140959 rs375130261 22:29091816-29091816 22:28695828-28695828
38 CHEK2 NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)SNV Uncertain significance 128092 rs587780194 22:29095854-29095854 22:28699866-28699866
39 CHEK2 NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)SNV Uncertain significance 133888 rs371657037 22:29130553-29130553 22:28734565-28734565
40 CHEK2 NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)SNV Uncertain significance 142533 rs587782527 22:29091741-29091741 22:28695753-28695753
41 CHEK2 NM_007194.4(CHEK2):c.1375+3A>GSNV Uncertain significance 232607 rs876659868 22:29091112-29091112 22:28695124-28695124
42 CHEK2 NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)SNV Uncertain significance 230025 rs876658337 22:29092906-29092906 22:28696918-28696918
43 CHEK2 NM_007194.4(CHEK2):c.937G>A (p.Val313Met)SNV Uncertain significance 410041 rs752302543 22:29095897-29095897 22:28699909-28699909
44 CHEK2 NM_007194.4(CHEK2):c.1376-13A>GSNV Uncertain significance 418624 rs1064793330 22:29090118-29090118 22:28694130-28694130
45 CHEK2 NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)SNV Uncertain significance 420003 rs750984976 22:29095867-29095867 22:28699879-28699879
46 CHEK2 NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu)SNV Uncertain significance 479549 rs781678896 22:29121239-29121239 22:28725251-28725251

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

73
# 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 COSM88406309 NOTCH2 soft tissue,breast,sarcoma,NS c.1145A>G p.N382S 1:119968196-119968196 3
2 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
3 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
4 COSM138972819 soft tissue,breast,sarcoma,NS c.1028A>G p.N343S 1:119968196-119968196 3
5 COSM95520543 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
6 COSM95523461 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
7 COSM95526780 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 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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