Li-Fraumeni Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Li-Fraumeni Syndrome 2

MalaCards integrated aliases for Li-Fraumeni Syndrome 2:

Name: Li-Fraumeni Syndrome 2 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ⁴³ ¹⁴ ⁷¹

Lfs2 ⁵⁷ ¹¹ ⁷³

Li-Fraumeni Syndrome, Type 2 ³⁸

Li-Fraumeni Syndrome ⁷¹

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases Rare diseases
Anatomical: Neuronal diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0111504

OMIM® ⁵⁷ 609265

OMIM Phenotypic Series ⁵⁷ PS151623

MeSH ⁴³ C563755

MedGen ⁴⁰ C1836482

SNOMED-CT via HPO ⁶⁹ 115240006 2424003 254838004 more

UMLS ⁷¹ C0085390 C1836482

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Summaries for Li-Fraumeni Syndrome 2

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

Disease Ontology: ¹¹ A Li-Fraumeni syndrome that has material basis in heterozygous mutation in CHEK2 on chromosome 22q12.1.

More information from OMIM: 609265 PS151623

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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:

#	Related Disease	Score	Top Affiliating Genes
1	bone osteosarcoma	9.7	SNRNP25 CHEK2
2	li-fraumeni syndrome 1	9.4	SNRNP25 KRTAP10-1 DOCK5 CHEK2

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Symptoms & Phenotypes for Li-Fraumeni Syndrome 2

Human phenotypes related to Li-Fraumeni Syndrome 2:

³⁰

#	Description	HPO Source Accession
1	glioma ³⁰	HP:0009733
2	meningioma ³⁰	HP:0002858
3	sarcoma ³⁰	HP:0100242
4	breast carcinoma ³⁰	HP:0003002
5	stomach cancer ³⁰	HP:0012126

Clinical features from OMIM®:

609265 (Updated 08-Dec-2022)

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	8.92	MATN3
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	8.92	CPQ
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	8.92	MATN3
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	8.92	CPQ

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Drugs & Therapeutics for Li-Fraumeni Syndrome 2

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

(show all 21)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Nicotinamide

Approved, Investigational

Phase 1, Phase 2

98-92-0

936

2

Benzocaine

Approved, Investigational

Phase 1, Phase 2

1994-09-7, 94-09-7

2337

3

Tannic acid

Approved

Phase 1, Phase 2

1401-55-4

16129878 16129778

4

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 1, Phase 2

59-30-3

6037

5

Niacin

Approved, Investigational, Nutraceutical

Phase 1, Phase 2

59-67-6

938

6

Folate

Phase 1, Phase 2

7

Vitamins

Phase 1, Phase 2

8

Vitamin B9

Phase 1, Phase 2

9

Vitamin B3

Phase 1, Phase 2

10

Trace Elements

Phase 1, Phase 2

11

Nicotinic Acids

Phase 1, Phase 2

12

Antimetabolites

Phase 1, Phase 2

13

Vasodilator Agents

Phase 1, Phase 2

14

Vitamin B Complex

Phase 1, Phase 2

15

Hypolipidemic Agents

Phase 1, Phase 2

16

Lipid Regulating Agents

Phase 1, Phase 2

17

Micronutrients

Phase 1, Phase 2

18

Phosphocreatine

Nutraceutical

Phase 1, Phase 2

67-07-2

587

19

Metformin

Approved

Phase 1

1115-70-4, 657-24-9

4091

20

Hypoglycemic Agents

Phase 1

21

Anesthetics

Interventional clinical trials:

(show all 16)

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

Search NIH Clinical Center for Li-Fraumeni Syndrome 2

Cochrane evidence based reviews: li-fraumeni syndrome 2

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Genetic Tests for Li-Fraumeni Syndrome 2

Genetic tests related to Li-Fraumeni Syndrome 2:

#	Genetic test	Affiliating Genes
1	Li-Fraumeni Syndrome 2 ²⁸	CHEK2

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Anatomical Context for Li-Fraumeni Syndrome 2

Organs/tissues related to Li-Fraumeni Syndrome 2:

MalaCards : Breast, Bone, Brain, Bone Marrow, Prostate

ODiseA: Blood And Bone Marrow, Mammary Gland, Brain

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Publications for Li-Fraumeni Syndrome 2

Articles related to Li-Fraumeni Syndrome 2:

(show all 15)

#	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. ⁵⁷ ⁵	Vahteristo P...Nevanlinna H	11479205	2001
2	Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. ⁵⁷ ⁵	Bell DW...Haber DA	10617473	1999
3	A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. ⁵	Cybulski C...Lubinski J	17085682	2006
4	CHEK2 I157T associates with familial and sporadic colorectal cancer. ⁵	Kilpivaara O...Nevanlinna H	16816021	2006
5	Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. ⁵	Johnson N...Peto J	16257342	2005
6	CHEK2 is a multiorgan cancer susceptibility gene. ⁵	Cybulski C...Lubinski J	15492928	2004
7	Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. ⁵	de Bock GH...Klijn JG	15466005	2004
8	CHEK2 variant I157T may be associated with increased breast cancer risk. ⁵	Kilpivaara O...Nevanlinna H	15239132	2004
9	CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. ⁵	CHEK2 Breast Cancer Case-Control Consortium	15122511	2004
10	The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. ⁵	Meijers-Heijboer H...Schutte M	12690581	2003
11	Mutations in CHEK2 associated with prostate cancer risk. ⁵	Dong X...Liu W	12533788	2003
12	A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. ⁵	Vahteristo P...Nevanlinna H	12094328	2002
13	Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. ⁵	Meijers-Heijboer H...CHEK2-Breast Cancer Consortium	11967536	2002
14	Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. ⁵	Lee SB...Haber DA	11719428	2001
15	A Prospective, Open-Label, Multicenter, Real-World Study of VYC-17.5L Hyaluronic Acid Dermal Filler in the Lips. ⁶²	Demosthenous N...Silberberg M	35795884	2022

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Genes for Li-Fraumeni Syndrome 2

Genes related to Li-Fraumeni Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CHEK2	Checkpoint Kinase 2	Protein Coding	1338.03	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	10617473 11479205 11719428 (more) 11967536 12094328 12533788 12690581 15122511 15239132 15466005 15492928 16257342 16816021 17085682
2	KRTAP10-1	Keratin Associated Protein 10-1	Protein Coding	6.06	DISEASES inferred ¹⁴
3	CPQ	Carboxypeptidase Q	Protein Coding	5.98	DISEASES inferred ¹⁴
4	TOP3B	DNA Topoisomerase III Beta	Protein Coding	5.8	DISEASES inferred ¹⁴
5	DOCK5	Dedicator Of Cytokinesis 5	Protein Coding	5.59	DISEASES inferred ¹⁴
6	MATN3	Matrilin 3	Protein Coding	5.24	DISEASES inferred ¹⁴
7	DPP8	Dipeptidyl Peptidase 8	Protein Coding	5.22	DISEASES inferred ¹⁴
8	SNRNP25	Small Nuclear Ribonucleoprotein U11/U12 Subunit 25	Protein Coding	5.21	DISEASES inferred ¹⁴

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Variations for Li-Fraumeni Syndrome 2

ClinVar genetic disease variations for Li-Fraumeni Syndrome 2:

⁵ (show top 50) (show all 61)

#	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 Pathogenic Pathogenic	128075	rs121908698	GRCh37: 22:29121230-29121230 GRCh38: 22:28725242-28725242
3	CHEK2	NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	SNV	Pathogenic	439092	rs200917541	GRCh37: 22:29121258-29121258 GRCh38: 22:28725270-28725270
4	CHEK2	NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	SNV	Pathogenic	182452	rs730881701	GRCh37: 22:29121266-29121266 GRCh38: 22:28725278-28725278
5	CHEK2	NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	SNV	Pathogenic	141381	rs587781705	GRCh37: 22:29130494-29130494 GRCh38: 22:28734506-28734506
6	CHEK2	NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	SNV	Pathogenic	5603	rs137853011	GRCh37: 22:29091207-29091207 GRCh38: 22:28695219-28695219
7	CHEK2	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	DEL	Pathogenic Pathogenic	128042	rs555607708	GRCh37: 22:29091857-29091857 GRCh38: 22:28695869-28695869
8	CHEK2	NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	SNV	Pathogenic Likely Pathogenic	5591	rs17879961	GRCh37: 22:29121087-29121087 GRCh38: 22:28725099-28725099
9	CHEK2	NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	SNV	Pathogenic	5592	rs137853007	GRCh37: 22:29121242-29121242 GRCh38: 22:28725254-28725254
10	CHEK2	NM_007194.4(CHEK2):c.1425del (p.Phe475fs)	DEL	Pathogenic	5593		GRCh37: 22:29090056-29090056 GRCh38: 22:28694068-28694068
11	CHEK2	NM_007194.4(CHEK2):c.320-5T>A	SNV	Pathogenic	128070	rs121908700	GRCh37: 22:29121360-29121360 GRCh38: 22:28725372-28725372
12	CHEK2	NM_007194.4(CHEK2):c.592+3A>T	SNV	Pathogenic	142956	rs587782849	GRCh37: 22:29120962-29120962 GRCh38: 22:28724974-28724974
13	CHEK2	NM_007194.4(CHEK2):c.846+4_846+7del	DEL	Pathogenic	216652	rs764884641	GRCh37: 22:29105987-29105990 GRCh38: 22:28709999-28710002
14	CHEK2	NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)	SNV	Pathogenic	530096	rs905674348	GRCh37: 22:29121336-29121336 GRCh38: 22:28725348-28725348
15	CHEK2	NM_007194.4(CHEK2):c.277del (p.Trp93fs)	DEL	Pathogenic	187085	rs786203458	GRCh37: 22:29130433-29130433 GRCh38: 22:28734445-28734445
16	CHEK2	NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	SNV	Likely Pathogenic	128071	rs28909982	GRCh37: 22:29121326-29121326 GRCh38: 22:28725338-28725338
17	CHEK2	NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	SNV	Likely Pathogenic	128064	rs200432447	GRCh37: 22:29083962-29083962 GRCh38: 22:28687974-28687974
18	CHEK2	NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)	DEL	Likely Pathogenic	479550	rs765664259	GRCh37: 22:29091719-29091719 GRCh38: 22:28695731-28695731
19	CHEK2	NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)	SNV	Likely Pathogenic	491635	rs786201896	GRCh37: 22:29107932-29107932 GRCh38: 22:28711944-28711944
20	CHEK2	NM_007194.4(CHEK2):c.319+2T>A	SNV	Likely Pathogenic	142352	rs587782401	GRCh37: 22:29130389-29130389 GRCh38: 22:28734401-28734401
21	CHEK2	NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	SNV	Likely Pathogenic	142448	rs587782471	GRCh37: 22:29107982-29107982 GRCh38: 22:28711994-28711994
22	CHEK2	NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)	SNV	Likely Pathogenic	128089	rs587780192	GRCh37: 22:29095917-29095917 GRCh38: 22:28699929-28699929
23	CHEK2	NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)	SNV	Uncertain Significance	140933	rs141776984	GRCh37: 22:29107962-29107962 GRCh38: 22:28711974-28711974
24	CHEK2	NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)	SNV	Uncertain Significance	142151	rs587782268	GRCh37: 22:29092931-29092931 GRCh38: 22:28696943-28696943
25	CHEK2	NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)	SNV	Uncertain Significance	128076	rs72552323	GRCh37: 22:29121078-29121078 GRCh38: 22:28725090-28725090
26	CHEK2	NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	SNV	Uncertain Significance Uncertain Significance	128056	rs200050883	GRCh37: 22:29091178-29091178 GRCh38: 22:28695190-28695190
27	CHEK2	NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	SNV	Uncertain Significance Uncertain Significance	5598	rs121908701	GRCh37: 22:29121015-29121015 GRCh38: 22:28725027-28725027
28	CHEK2	NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	SNV	Uncertain Significance	128054	rs139366548	GRCh37: 22:29091220-29091220 GRCh38: 22:28695232-28695232
29	CHEK2	NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)	SNV	Uncertain Significance	140938	rs564605612	GRCh37: 22:29090030-29090030 GRCh38: 22:28694042-28694042
30	CHEK2	NM_007194.4(CHEK2):c.556A>C (p.Asn186His)	SNV	Uncertain Significance	141977	rs146198085	GRCh37: 22:29121001-29121001 GRCh38: 22:28725013-28725013
31	CHEK2	NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	SNV	Uncertain Significance	128066	rs587780180	GRCh37: 22:29083961-29083961 GRCh38: 22:28687973-28687973
32	CHEK2	NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)	SNV	Uncertain Significance	128092	rs587780194	GRCh37: 22:29095854-29095854 GRCh38: 22:28699866-28699866
33	CHEK2	NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	SNV	Uncertain Significance	126909	rs121908705	GRCh37: 22:29091154-29091154 GRCh38: 22:28695166-28695166
34	CHEK2	NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)	SNV	Uncertain Significance	142533	rs587782527	GRCh37: 22:29091741-29091741 GRCh38: 22:28695753-28695753
35	CHEK2	NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)	SNV	Uncertain Significance	182445	rs730881695	GRCh37: 22:29130540-29130540 GRCh38: 22:28734552-28734552
36	CHEK2	NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)	SNV	Uncertain Significance	141856	rs17882942	GRCh37: 22:29085131-29085131 GRCh38: 22:28689143-28689143
37	CHEK2	NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	SNV	Uncertain Significance	128063	rs587780179	GRCh37: 22:29085140-29085140 GRCh38: 22:28689152-28689152
38	CHEK2	NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)	SNV	Uncertain Significance	142479	rs587782489	GRCh37: 22:29085155-29085155 GRCh38: 22:28689167-28689167
39	CHEK2	NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	SNV	Uncertain Significance	128059	rs540635787	GRCh37: 22:29090061-29090061 GRCh38: 22:28694073-28694073
40	CHEK2	NM_007194.4(CHEK2):c.1375+3A>G	SNV	Uncertain Significance	232607	rs876659868	GRCh37: 22:29091112-29091112 GRCh38: 22:28695124-28695124
41	CHEK2	NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)	SNV	Uncertain Significance	128050	rs587780171	GRCh37: 22:29091742-29091742 GRCh38: 22:28695754-28695754
42	CHEK2	NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)	SNV	Uncertain Significance	182435	rs730881690	GRCh37: 22:29091779-29091779 GRCh38: 22:28695791-28695791
43	CHEK2	NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)	SNV	Uncertain Significance	140959	rs375130261	GRCh37: 22:29091816-29091816 GRCh38: 22:28695828-28695828
44	CHEK2	NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)	SNV	Uncertain Significance	128046	rs587780167	GRCh37: 22:29091824-29091824 GRCh38: 22:28695836-28695836
45	CHEK2	NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)	SNV	Uncertain Significance	128044	rs531398630	GRCh37: 22:29091846-29091846 GRCh38: 22:28695858-28695858
46	CHEK2	NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)	SNV	Uncertain Significance	230025	rs876658337	GRCh37: 22:29092906-29092906 GRCh38: 22:28696918-28696918
47	CHEK2	NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)	SNV	Uncertain Significance	142222	rs201206424	GRCh37: 22:29092948-29092948 GRCh38: 22:28696960-28696960
48	CHEK2	NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)	SNV	Uncertain Significance	182457	rs730881705	GRCh37: 22:29092960-29092960 GRCh38: 22:28696972-28696972
49	CHEK2	NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)	SNV	Uncertain Significance	420003	rs750984976	GRCh37: 22:29095867-29095867 GRCh38: 22:28699879-28699879
50	CHEK2	NM_007194.4(CHEK2):c.937G>A (p.Val313Met)	SNV	Uncertain Significance	410041	rs752302543	GRCh37: 22:29095897-29095897 GRCh38: 22:28699909-28699909

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:

⁸

#	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

Sources

Expression for Li-Fraumeni Syndrome 2

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

Sources

Pathways for Li-Fraumeni Syndrome 2

Sources

GO Terms for Li-Fraumeni Syndrome 2

Sources

Sources for Li-Fraumeni Syndrome 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LFS2 MCID: LFR007 MIFTS: 35	Li-Fraumeni Syndrome 2 (LFS2) Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Li-Fraumeni Syndrome 2 (LFS2)

Aliases & Classifications for Li-Fraumeni Syndrome 2

MalaCards integrated aliases for Li-Fraumeni Syndrome 2:

Classifications:

External Ids:

Summaries for Li-Fraumeni Syndrome 2

Related Diseases for Li-Fraumeni Syndrome 2

Diseases in the Li-Fraumeni Syndrome family:

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

Symptoms & Phenotypes for Li-Fraumeni Syndrome 2

Human phenotypes related to Li-Fraumeni Syndrome 2:

Clinical features from OMIM®:

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

Drugs & Therapeutics for Li-Fraumeni Syndrome 2

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

Interventional clinical trials:

Cochrane evidence based reviews: li-fraumeni syndrome 2

Genetic Tests for Li-Fraumeni Syndrome 2

Genetic tests related to Li-Fraumeni Syndrome 2:

Anatomical Context for Li-Fraumeni Syndrome 2

Organs/tissues related to Li-Fraumeni Syndrome 2:

Publications for Li-Fraumeni Syndrome 2

Articles related to Li-Fraumeni Syndrome 2:

Genes for Li-Fraumeni Syndrome 2

Genes related to Li-Fraumeni Syndrome 2 (1 elite genes):

Variations for Li-Fraumeni Syndrome 2

ClinVar genetic disease variations for Li-Fraumeni Syndrome 2:

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

Cosmic variations for Li-Fraumeni Syndrome 2:

Expression for Li-Fraumeni Syndrome 2

Pathways for Li-Fraumeni Syndrome 2

GO Terms for Li-Fraumeni Syndrome 2

Sources for Li-Fraumeni Syndrome 2