LFS2
MCID: LFR007
MIFTS: 45

Li-Fraumeni Syndrome 2 (LFS2)

Categories: 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 12 72 29 6 15 70
Lfs2 57 12 72
Li-Fraumeni Syndrome 57 70
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® 57 609265
OMIM Phenotypic Series 57 PS151623
MedGen 41 C1836482
UMLS 70 C0085390 C1836482

Summaries for Li-Fraumeni Syndrome 2

UniProtKB/Swiss-Prot : 72 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 1 and li-fraumeni syndrome. 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 lung, 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 191)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 1 31.2 TNFRSF10D SNRNP25 KRTAP10-1 DOCK5 CHEK2
2 li-fraumeni syndrome 12.2
3 adrenocortical carcinoma, hereditary 11.4
4 gastric cancer 11.4
5 soft tissue sarcoma 11.3
6 glioblastoma 11.3
7 medulloblastoma 11.3
8 adrenal carcinoma 11.2
9 pilocytic astrocytoma 11.2
10 tumor predisposition syndrome 10.9
11 cutaneous telangiectasia and cancer syndrome, familial 10.9
12 inherited cancer-predisposing syndrome 10.9
13 osteogenic sarcoma 10.8
14 adrenal cortical carcinoma 10.8
15 adrenal cortical adenocarcinoma 10.7
16 rhabdomyosarcoma 10.7
17 choroid plexus cancer 10.6
18 breast cancer 10.6
19 bilateral breast cancer 10.6
20 leiomyosarcoma 10.5
21 liposarcoma 10.5
22 lung cancer susceptibility 3 10.5
23 sarcoma 10.5
24 leukemia 10.5
25 brain cancer 10.5
26 adenocarcinoma 10.5
27 spindle cell sarcoma 10.5
28 colorectal cancer 10.4
29 leukemia, acute lymphoblastic 10.4
30 lymphoma 10.4
31 melanoma 10.4
32 thyroid carcinoma 10.4
33 glioma susceptibility 1 10.4
34 lung cancer 10.4
35 papilloma of choroid plexus 10.4
36 myelodysplastic syndrome 10.4
37 squamous cell papilloma 10.4
38 papilloma 10.4
39 breast sarcoma 10.3
40 malignant astrocytoma 10.3
41 embryonal rhabdomyosarcoma 10.3
42 lynch syndrome 10.3
43 hereditary breast ovarian cancer syndrome 10.3
44 myeloid leukemia 10.3
45 gastric cancer, hereditary diffuse 10.3
46 ovarian cancer 10.3
47 prostate cancer 10.3
48 leukemia, acute myeloid 10.3
49 myxoid liposarcoma 10.3
50 accelerated tumor formation 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 meningioma 31 HP:0002858
4 breast carcinoma 31 HP:0003002
5 stomach cancer 31 HP:0012126

Clinical features from OMIM®:

609265 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Li-Fraumeni Syndrome 2 according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.64 DPP8
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.64 DPP8
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-127 9.64 DOCK5 TSC22D2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.64 DOCK5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 9.64 TSC22D2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.64 DOCK5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 9.64 TSC22D2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.64 DOCK5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.64 DOCK5
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 9.64 TSC22D2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.64 DPP8
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.64 DOCK5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.64 DOCK5 TSC22D2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.64 TSC22D2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 9.64 DPP8
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 9.64 DOCK5
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.64 TSC22D2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.64 DOCK5 DPP8

Drugs & Therapeutics for Li-Fraumeni Syndrome 2

Drugs for Li-Fraumeni Syndrome 2 (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 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, Lung, Myeloid, Skin, Brain, Colon

Publications for Li-Fraumeni Syndrome 2

Articles related to Li-Fraumeni Syndrome 2:

(show top 50) (show all 1098)
# 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 6 57
11479205 2001
2
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 6 57 61
10617473 1999
3
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 6 61
12094328 2002
4
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 61 6
11719428 2001
5
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. 6
17085682 2006
6
CHEK2 I157T associates with familial and sporadic colorectal cancer. 6
16816021 2006
7
Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. 6
16257342 2005
8
CHEK2 is a multiorgan cancer susceptibility gene. 6
15492928 2004
9
Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. 6
15466005 2004
10
CHEK2 variant I157T may be associated with increased breast cancer risk. 6
15239132 2004
11
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
12
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. 6
12690581 2003
13
Mutations in CHEK2 associated with prostate cancer risk. 6
12533788 2003
14
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 6
11967536 2002
15
Recurrence of mucosal melanoma in Li-Fraumeni syndrome: A follow-up of an index case. 61
33732843 2021
16
Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET. 61
33615670 2021
17
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas. 61
33319852 2021
18
Genetic and stochastic influences upon tumor formation and tumor types in Li-Fraumeni mouse models. 61
33376133 2021
19
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. 61
33300245 2021
20
Loss of H3K27me3 occurs in a large subset of embryonal rhabdomyosarcomas: Immunohistochemical and molecular analysis of 25 cases. 61
33770660 2021
21
A rare association of two endocrine tumours: non-functional oncocytic adrenocortical carcinoma and Papillary thyroid carcinoma. 61
33675218 2021
22
Helping young children understand inherited cancer predisposition syndromes using bibliotherapy. 61
33788335 2021
23
Therapy-related Myeloid Neoplasms in Children: A Single-institute Study. 61
33625084 2021
24
Histopathologic features of breast cancer in Li-Fraumeni syndrome. 61
32636452 2021
25
The importance of Li-Fraumeni syndrome, a hereditary cancer predisposition disorder. 61
33458985 2021
26
A Novel Germline TP53 Mutation in a Patient With Li-Fraumeni Syndrome: Resolving a Variant of Uncertain Significance. 61
33633026 2021
27
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome. 61
33580201 2021
28
The Common Germline TP53-R337H Mutation is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model. 61
33637564 2021
29
Molecular insights into malignant progression of atypical choroid plexus papilloma. 61
33608379 2021
30
Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution. 61
32930885 2021
31
Refractory alveolar rhabdomyosarcoma in an 11-year-old male. 61
33436392 2021
32
Mutations Encountered in Acute Lymphoblastic Leukemia: A Retrospective Study in a Teaching Hospital in Jeddah, Saudi Arabia. 61
33542873 2021
33
"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome. 61
32449501 2021
34
Li-Fraumeni Syndrome and Whole-Body MRI Screening: Screening Guidelines, Imaging Features, and Impact on Patient Management. 61
33151095 2021
35
Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine. 61
33407806 2021
36
Pediatric Case of Li-Fraumeni Syndrome in Honduras. 61
33505750 2021
37
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome. 61
33407742 2021
38
Three Primary Tumors Including EGFR-mutated Non-Small Cell Lung Cancer as First Presentation in Patient With Li-Fraumeni Syndrome. 61
33172777 2021
39
Recent advances in the pathology of heritable gastric cancer syndromes. 61
33382491 2021
40
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. 61
33406487 2021
41
Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome. 61
32969947 2020
42
Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations. 61
31647118 2020
43
Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome. 61
33490865 2020
44
Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report. 61
33704190 2020
45
Modeling of osteosarcoma with induced pluripotent stem cells. 61
33022533 2020
46
Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group. 61
33372952 2020
47
Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients. 61
33138793 2020
48
Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report. 61
33292569 2020
49
TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge. 61
33245408 2020
50
Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes. 61
32895312 2020

Variations for Li-Fraumeni Syndrome 2

ClinVar genetic disease variations for Li-Fraumeni Syndrome 2:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHEK2 NM_007194.4(CHEK2):c.444+2T>C SNV Pathogenic 422638 rs560596101 GRCh37: 22:29121229-29121229
GRCh38: 22:28725241-28725241
2 CHEK2 NM_007194.4(CHEK2):c.444+1G>A SNV Pathogenic 128075 rs121908698 GRCh37: 22:29121230-29121230
GRCh38: 22:28725242-28725242
3 CHEK2 NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) SNV Pathogenic 141381 rs587781705 GRCh37: 22:29130494-29130494
GRCh38: 22:28734506-28734506
4 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) Deletion Pathogenic 128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
5 CHEK2 NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) SNV Pathogenic 5592 rs137853007 GRCh37: 22:29121242-29121242
GRCh38: 22:28725254-28725254
6 CHEK2 CHEK2, 1-BP DEL, 1422T Deletion Pathogenic 5593 GRCh37:
GRCh38:
7 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) Deletion Pathogenic 128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
8 CHEK2 NM_007194.4(CHEK2):c.320-5T>A SNV Pathogenic 128070 rs121908700 GRCh37: 22:29121360-29121360
GRCh38: 22:28725372-28725372
9 CHEK2 NM_007194.4(CHEK2):c.444+1G>A SNV Pathogenic 128075 rs121908698 GRCh37: 22:29121230-29121230
GRCh38: 22:28725242-28725242
10 CHEK2 NM_007194.4(CHEK2):c.592+3A>T SNV Pathogenic 142956 rs587782849 GRCh37: 22:29120962-29120962
GRCh38: 22:28724974-28724974
11 CHEK2 NM_007194.4(CHEK2):c.846+4_846+7del Deletion Pathogenic 216652 rs764884641 GRCh37: 22:29105987-29105990
GRCh38: 22:28709999-28710002
12 CHEK2 NM_007194.4(CHEK2):c.600del (p.Phe202fs) Deletion Pathogenic 460845 rs1555924538 GRCh37: 22:29115466-29115466
GRCh38: 22:28719478-28719478
13 CHEK2 NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) Duplication Pathogenic 182450 rs730881700 GRCh37: 22:29091121-29091122
GRCh38: 22:28695133-28695134
14 CHEK2 NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) SNV Pathogenic 5603 rs137853011 GRCh37: 22:29091207-29091207
GRCh38: 22:28695219-28695219
15 CHEK2 NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) SNV Pathogenic 439092 rs200917541 GRCh37: 22:29121258-29121258
GRCh38: 22:28725270-28725270
16 CHEK2 NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) SNV Pathogenic 5591 rs17879961 GRCh37: 22:29121087-29121087
GRCh38: 22:28725099-28725099
17 CHEK2 NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) SNV Pathogenic 182452 rs730881701 GRCh37: 22:29121266-29121266
GRCh38: 22:28725278-28725278
18 CHEK2 NM_007194.4(CHEK2):c.319+2T>A SNV Likely pathogenic 142352 rs587782401 GRCh37: 22:29130389-29130389
GRCh38: 22:28734401-28734401
19 CHEK2 NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) SNV Likely pathogenic 142448 rs587782471 GRCh37: 22:29107982-29107982
GRCh38: 22:28711994-28711994
20 CHEK2 NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) SNV Likely pathogenic 128089 rs587780192 GRCh37: 22:29095917-29095917
GRCh38: 22:28699929-28699929
21 CHEK2 NM_007194.4(CHEK2):c.542G>A (p.Arg181His) SNV Uncertain significance 5598 rs121908701 GRCh37: 22:29121015-29121015
GRCh38: 22:28725027-28725027
22 CHEK2 NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) SNV Uncertain significance 142222 rs201206424 GRCh37: 22:29092948-29092948
GRCh38: 22:28696960-28696960
23 CHEK2 NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) SNV Uncertain significance 128056 rs200050883 GRCh37: 22:29091178-29091178
GRCh38: 22:28695190-28695190
24 CHEK2 NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) SNV Uncertain significance 128056 rs200050883 GRCh37: 22:29091178-29091178
GRCh38: 22:28695190-28695190
25 CHEK2 NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) SNV Uncertain significance 128044 rs531398630 GRCh37: 22:29091846-29091846
GRCh38: 22:28695858-28695858
26 CHEK2 NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) SNV Uncertain significance 140932 rs587781379 GRCh37: 22:29107934-29107934
GRCh38: 22:28711946-28711946
27 CHEK2 NM_007194.4(CHEK2):c.542G>A (p.Arg181His) SNV Uncertain significance 5598 rs121908701 GRCh37: 22:29121015-29121015
GRCh38: 22:28725027-28725027
28 CHEK2 NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) SNV Uncertain significance 140933 rs141776984 GRCh37: 22:29107962-29107962
GRCh38: 22:28711974-28711974
29 CHEK2 NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) SNV Uncertain significance 142151 rs587782268 GRCh37: 22:29092931-29092931
GRCh38: 22:28696943-28696943
30 CHEK2 NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) SNV Uncertain significance 128076 rs72552323 GRCh37: 22:29121078-29121078
GRCh38: 22:28725090-28725090
31 CHEK2 NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) SNV Uncertain significance 128054 rs139366548 GRCh37: 22:29091220-29091220
GRCh38: 22:28695232-28695232
32 CHEK2 NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) SNV Uncertain significance 140938 rs564605612 GRCh37: 22:29090030-29090030
GRCh38: 22:28694042-28694042
33 CHEK2 NM_007194.4(CHEK2):c.556A>C (p.Asn186His) SNV Uncertain significance 141977 rs146198085 GRCh37: 22:29121001-29121001
GRCh38: 22:28725013-28725013
34 CHEK2 NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) SNV Uncertain significance 128066 rs587780180 GRCh37: 22:29083961-29083961
GRCh38: 22:28687973-28687973
35 CHEK2 NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) SNV Uncertain significance 128092 rs587780194 GRCh37: 22:29095854-29095854
GRCh38: 22:28699866-28699866
36 CHEK2 NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) SNV Uncertain significance 126909 rs121908705 GRCh37: 22:29091154-29091154
GRCh38: 22:28695166-28695166
37 CHEK2 NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) SNV Uncertain significance 142533 rs587782527 GRCh37: 22:29091741-29091741
GRCh38: 22:28695753-28695753
38 CHEK2 NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) SNV Uncertain significance 182445 rs730881695 GRCh37: 22:29130540-29130540
GRCh38: 22:28734552-28734552
39 CHEK2 NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) SNV Uncertain significance 141856 rs17882942 GRCh37: 22:29085131-29085131
GRCh38: 22:28689143-28689143
40 CHEK2 NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) SNV Uncertain significance 128063 rs587780179 GRCh37: 22:29085140-29085140
GRCh38: 22:28689152-28689152
41 CHEK2 NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) SNV Uncertain significance 142479 rs587782489 GRCh37: 22:29085155-29085155
GRCh38: 22:28689167-28689167
42 CHEK2 NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) SNV Uncertain significance 128059 rs540635787 GRCh37: 22:29090061-29090061
GRCh38: 22:28694073-28694073
43 CHEK2 NM_007194.4(CHEK2):c.1376-13A>G SNV Uncertain significance 418624 rs1064793330 GRCh37: 22:29090118-29090118
GRCh38: 22:28694130-28694130
44 CHEK2 NM_007194.4(CHEK2):c.1375+3A>G SNV Uncertain significance 232607 rs876659868 GRCh37: 22:29091112-29091112
GRCh38: 22:28695124-28695124
45 CHEK2 NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) SNV Uncertain significance 128050 rs587780171 GRCh37: 22:29091742-29091742
GRCh38: 22:28695754-28695754
46 CHEK2 NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) SNV Uncertain significance 182435 rs730881690 GRCh37: 22:29091779-29091779
GRCh38: 22:28695791-28695791
47 CHEK2 NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) SNV Uncertain significance 140959 rs375130261 GRCh37: 22:29091816-29091816
GRCh38: 22:28695828-28695828
48 CHEK2 NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) SNV Uncertain significance 128046 rs587780167 GRCh37: 22:29091824-29091824
GRCh38: 22:28695836-28695836
49 CHEK2 NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) SNV Uncertain significance 230025 rs876658337 GRCh37: 22:29092906-29092906
GRCh38: 22:28696918-28696918
50 CHEK2 NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) SNV Uncertain significance 182457 rs730881705 GRCh37: 22:29092960-29092960
GRCh38: 22:28696972-28696972

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

72
# 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 COSM138972819 NOTCH2 soft tissue,breast,sarcoma,NS c.1028A>G p.N343S 1:119968196-119968196 3
2 COSM88406309 NOTCH2 soft tissue,breast,sarcoma,NS c.1145A>G p.N382S 1:119968196-119968196 3
3 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
4 COSM95520543 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
5 COSM95523461 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
6 COSM95526780 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
7 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 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

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
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