ACTFS
MCID: ACC008
MIFTS: 20

Accelerated Tumor Formation (ACTFS)

Categories: Genetic diseases

Aliases & Classifications for Accelerated Tumor Formation

MalaCards integrated aliases for Accelerated Tumor Formation:

Name: Accelerated Tumor Formation 57
Accelerated Tumor Formation, Susceptibility to 57 29 13 6
Tumor Formation, Accelerated, Susceptibility to 39
Actfs 57

Characteristics:

OMIM®:

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


Classifications:



External Ids:

OMIM® 57 614401
MedGen 41 C3280690

Summaries for Accelerated Tumor Formation

MalaCards based summary : Accelerated Tumor Formation, also known as accelerated tumor formation, susceptibility to, is related to insulin-like growth factor i. An important gene associated with Accelerated Tumor Formation is MDM2 (MDM2 Proto-Oncogene). Affiliated tissues include colon, endothelial and breast.

More information from OMIM: 614401

Related Diseases for Accelerated Tumor Formation

Diseases related to Accelerated Tumor Formation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 insulin-like growth factor i 9.9

Symptoms & Phenotypes for Accelerated Tumor Formation

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
accelerated tumor formation

Clinical features from OMIM®:

614401 (Updated 20-May-2021)

Drugs & Therapeutics for Accelerated Tumor Formation

Search Clinical Trials , NIH Clinical Center for Accelerated Tumor Formation

Genetic Tests for Accelerated Tumor Formation

Genetic tests related to Accelerated Tumor Formation:

# Genetic test Affiliating Genes
1 Accelerated Tumor Formation, Susceptibility to 29 MDM2

Anatomical Context for Accelerated Tumor Formation

MalaCards organs/tissues related to Accelerated Tumor Formation:

40
Colon, Endothelial, Breast

Publications for Accelerated Tumor Formation

Articles related to Accelerated Tumor Formation:

(show top 50) (show all 62)
# Title Authors PMID Year
1
A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. 6 61 57
15550242 2004
2
The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes. 6 57
17003841 2007
3
Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. 57 6
16258005 2006
4
Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms. 6
19521721 2009
5
Haplotype structure and selection of the MDM2 oncogene in humans. 6
17360557 2007
6
Mapping of gene loci in the Q13-Q15 region of chromosome 12. 57
7606365 1995
7
LINC01224 accelerates malignant transformation via MiR-193a-5p/CDK8 axis in gastric cancer. 61
33655711 2021
8
Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells. 61
32747535 2020
9
Silencing Long Non-coding RNA LINC01224 Inhibits Hepatocellular Carcinoma Progression via MicroRNA-330-5p-Induced Inhibition of CHEK1. 61
31902747 2020
10
Establishment of Immortalized Laryngeal Epithelial Cells Transfected with Bmi1. 61
32249592 2020
11
Up-regulation of long non-coding RNA MFI2 functions as an oncogenic role in cervical cancer progression. 61
31210294 2019
12
CDX2 inhibits the proliferation and tumor formation of colon cancer cells by suppressing Wnt/β-catenin signaling via transactivation of GSK-3β and Axin2 expression. 61
30631044 2019
13
Association between MDM2 SNP309 and endometrial cancer risk: A PRISMA-compliant meta-analysis. 61
30544386 2018
14
Intraperitoneal neutrophils activated by KRAS-induced ovarian cancer exert antitumor effects by modulating adaptive immunity. 61
30066851 2018
15
Omega-3 Fatty Acids Prevent Early Pancreatic Carcinogenesis via Repression of the AKT Pathway. 61
30213082 2018
16
[Twist regulates proliferation, migration and invasion of osteosarcoma cells in vitro]. 61
29891451 2018
17
Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression. 61
28376192 2017
18
Pyruvate Kinase Inhibits Proliferation during Postnatal Cerebellar Neurogenesis and Suppresses Medulloblastoma Formation. 61
28515149 2017
19
Loss of TGFβ signaling promotes colon cancer progression and tumor-associated inflammation. 61
27270652 2017
20
Obesity-associated Breast Cancer: Analysis of risk factors. 61
28585217 2017
21
A novel diet-induced murine model of steatohepatitis with fibrosis for screening and evaluation of drug candidates for nonalcoholic steatohepatitis. 61
27821715 2016
22
Neutrophils drive accelerated tumor progression in the collagen-dense mammary tumor microenvironment. 61
27169366 2016
23
Age-dependent association of MDM2 promoter polymorphisms and uterine leiomyoma in South-East Iran: A preliminary report. 61
25511444 2015
24
Mast cell-derived prostaglandin D2 inhibits colitis and colitis-associated colon cancer in mice. 61
24879565 2014
25
FBXW7 mutations in melanoma and a new therapeutic paradigm. 61
24838835 2014
26
Gankyrin promotes tumor growth and metastasis through activation of IL-6/STAT3 signaling in human cholangiocarcinoma. 61
24037855 2014
27
A functional SNP in the MDM2 promoter mediates E2F1 affinity to modulate cyclin D1 expression in tumor cell proliferation. 61
24870800 2014
28
Expression of a phosphorylated substrate domain of p130Cas promotes PyMT-induced c-Src-dependent murine breast cancer progression. 61
23825155 2013
29
MyoD is a tumor suppressor gene in medulloblastoma. 61
24092238 2013
30
Differential effects of mesenchymal stem cells on a heterogeneous cell population within lung cancer cell lines. 61
23456479 2013
31
Hepatocyte growth factor activator inhibitor type 1 is a suppressor of intestinal tumorigenesis. 61
23447577 2013
32
Multiple functions of sushi domain containing 2 (SUSD2) in breast tumorigenesis. 61
23131994 2013
33
RAP80 is critical in maintaining genomic stability and suppressing tumor development. 61
22896338 2012
34
Disruption of Klf4 in villin-positive gastric progenitor cells promotes formation and progression of tumors of the antrum in mice. 61
22155367 2012
35
[Relationship between MTA1 expression and invasive and metastatic ability of cervical cancer cell]. 61
22176993 2011
36
Forced activation of β-catenin signaling supports the transformation of hTERT-immortalized human fetal hepatocytes. 61
21807967 2011
37
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. 61
21305319 2011
38
Microsomal prostaglandin E synthase-1 inhibits PTEN and promotes experimental cholangiocarcinogenesis and tumor progression. 61
21354147 2011
39
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies. 61
21533183 2011
40
The integrin alpha(v)beta(3-5) ligand MFG-E8 is a p63/p73 target gene in triple-negative breast cancers but exhibits suppressive functions in ER(+) and erbB2(+) breast cancers. 61
21127199 2011
41
Activated Notch signaling is required for hepatitis B virus X protein to promote proliferation and survival of human hepatic cells. 61
20638778 2010
42
Effects of estrogen on breast cancer development: Role of estrogen receptor independent mechanisms. 61
20104523 2010
43
MDM2 promoter polymorphism is associated with increased susceptibility to hepatocellular carcinoma in Turkish population. 61
20447891 2010
44
Defective ubiquitin-mediated degradation of antiapoptotic Bfl-1 predisposes to lymphoma. 61
20185581 2010
45
Enforced expression of PPP1R13L increases tumorigenesis and invasion through p53-dependent and p53-independent mechanisms. 61
19263435 2009
46
MDM2 SNP309T>G polymorphism and risk of hepatocellular carcinoma: a case-control analysis in a Moroccan population. 61
19233569 2009
47
Obesity provides a permissive milieu in inflammation-associated carcinogenesis: analysis of insulin and IGF pathways. 61
19347271 2009
48
Genetic ablation of Bcl-x attenuates invasiveness without affecting apoptosis or tumor growth in a mouse model of pancreatic neuroendocrine cancer. 61
19209227 2009
49
Plakophilin3 downregulation leads to a decrease in cell adhesion and promotes metastasis. 61
18729189 2008
50
A polymorphism in HDM2 (SNP309) associates with early onset in superficial tumors, TP53 mutations, and poor outcome in invasive bladder cancer. 61
17545525 2007

Variations for Accelerated Tumor Formation

ClinVar genetic disease variations for Accelerated Tumor Formation:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MDM2 NM_002392.5(MDM2):c.14+309T>G SNV risk factor 13904 rs2279744 GRCh37: 12:69202580-69202580
GRCh38: 12:68808800-68808800
2 MDM2 NM_002392.5(MDM2):c.631A>C (p.Ile211Leu) SNV Uncertain significance 472750 rs750452466 GRCh37: 12:69222658-69222658
GRCh38: 12:68828878-68828878
3 MDM2 NM_002392.5(MDM2):c.565C>T (p.Arg189Cys) SNV Uncertain significance 539972 rs1555187172 GRCh37: 12:69222592-69222592
GRCh38: 12:68828812-68828812
4 MDM2 NM_001145340.3(MDM2):c.157-6899C>T SNV Uncertain significance 851326 GRCh37: 12:69222710-69222710
GRCh38: 12:68828930-68828930
5 MDM2 NM_002392.5(MDM2):c.995G>A (p.Arg332His) SNV Uncertain significance 855111 GRCh37: 12:69233130-69233130
GRCh38: 12:68839350-68839350
6 MDM2 NM_002392.5(MDM2):c.44C>T (p.Pro15Leu) SNV Uncertain significance 856511 GRCh37: 12:69203017-69203017
GRCh38: 12:68809237-68809237
7 MDM2 NM_002392.5(MDM2):c.1446A>G (p.Pro482=) SNV Uncertain significance 936578 GRCh37: 12:69233581-69233581
GRCh38: 12:68839801-68839801
8 MDM2 NM_002392.5(MDM2):c.961C>T (p.Leu321Phe) SNV Uncertain significance 941253 GRCh37: 12:69233096-69233096
GRCh38: 12:68839316-68839316
9 MDM2 NM_002392.5(MDM2):c.1241A>T (p.Gln414Leu) SNV Uncertain significance 946203 GRCh37: 12:69233376-69233376
GRCh38: 12:68839596-68839596
10 MDM2 NM_002392.5(MDM2):c.955C>A (p.Pro319Thr) SNV Uncertain significance 947873 GRCh37: 12:69233090-69233090
GRCh38: 12:68839310-68839310
11 MDM2 NM_001145340.3(MDM2):c.312+765T>C SNV Uncertain significance 965448 GRCh37: 12:69230529-69230529
GRCh38: 12:68836749-68836749
12 MDM2 NM_002392.5(MDM2):c.1202C>G (p.Ser401Cys) SNV Uncertain significance 967899 GRCh37: 12:69233337-69233337
GRCh38: 12:68839557-68839557
13 MDM2 NM_001145340.3(MDM2):c.156+6697G>A SNV Uncertain significance 971609 GRCh37: 12:69214105-69214105
GRCh38: 12:68820325-68820325
14 MDM2 NM_001145340.3(MDM2):c.157-6999A>G SNV Uncertain significance 1000905 GRCh37: 12:69222610-69222610
GRCh38: 12:68828830-68828830
15 MDM2 NM_001145337.3(MDM2):c.1073A>G (p.Tyr358Cys) SNV Uncertain significance 1019954 GRCh37: 12:69233367-69233367
GRCh38: 12:68839587-68839587
16 MDM2 NM_001145340.3(MDM2):c.157-7022G>C SNV Uncertain significance 1025823 GRCh37: 12:69222587-69222587
GRCh38: 12:68828807-68828807
17 MDM2 NM_002392.6(MDM2):c.350A>G (p.Asn117Ser) SNV Uncertain significance 1046432 GRCh37: 12:69214146-69214146
GRCh38: 12:68820366-68820366
18 MDM2 NM_002392.6(MDM2):c.1121A>G (p.Asn374Ser) SNV Uncertain significance 1058916 GRCh37: 12:69233256-69233256
GRCh38: 12:68839476-68839476
19 MDM2 NM_002392.5(MDM2):c.100-10C>A SNV Benign 472748 rs56410897 GRCh37: 12:69207324-69207324
GRCh38: 12:68813544-68813544
20 MDM2 NM_002392.5(MDM2):c.607C>T (p.Leu203=) SNV Benign 472749 rs1795480 GRCh37: 12:69222634-69222634
GRCh38: 12:68828854-68828854

Expression for Accelerated Tumor Formation

Search GEO for disease gene expression data for Accelerated Tumor Formation.

Pathways for Accelerated Tumor Formation

GO Terms for Accelerated Tumor Formation

Sources for Accelerated Tumor Formation

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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