Pten mutation

What is PTEN? - PTEN Foundatio

  1. PTEN Hamartoma Tumor syndrome (PHTS) is a rare genetic condition that causes increased risk for certain cancers, benign growths, and neurodevelopmental conditions. PHTS describes any person who is found to have a change, or mutation, in the PTEN gene; some persons may also carry diagnoses of Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome, which are based on their [
  2. Breast cancer. Inherited mutations in the PTEN gene increase the risk of developing breast cancer. In many cases, this increased risk occurs as part of Cowden syndrome (described above). Inherited mutations in the PTEN gene are thought to account for only a small fraction of all breast cancer cases.. Noninherited (somatic) PTEN gene mutations occur in some breast cancers in women without a.
  3. Results. PTEN mutation was detected in 65.5﹪of total EC samples.PTEN mutation was significantly associated with age, histological type, clinical stage, and grade. In addition, the patients with PTEN mutation showed a significantly prolonged overall survival (OS) time and disease free survival (DFS) time compared with EC patients without PTEN mutation in entire group, training group, and.
  4. The PTEN mutation carriers were obese as compared with population-based controls (mean body-mass index [the weight in kilograms divided by the square of the height in meters], 32 [range, 23 to 42.
  5. al tail. PTEN crystal figure is edited from Lee et al 1999; reference . (C) Distribution of mutation numbers according to PTEN exons and codons
  6. ant fashion, meaning that a person carrying a mutation in one copy of the PTEN gene has a 50 percent chance of passing this same alteration onto each of their future children
  7. Marsh DJ, Kum JB, Lunetta KL, et al., PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999;8:1461-72. INTERNET Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [Updated 2016 Jun 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors

Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is one of the most frequently disrupted tumor suppressors in cancer. The lipid phosphatase activity of PTEN antagonizes the phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR pathway to repress tumor cell growth and survival. In the nucleus Molecular analysis revealed a non-synonymous c.17_18delAA frameshift mutation in exon 1 of PTEN and a c.116G>T (p.R39L) missense mutation of serine/threonine kinase 11 (STK11) of unknown significance

PTEN gene: MedlinePlus Genetic

PTEN Mutation is present in 4.87% of AACR GENIE cases, with endometrial endometrioid adenocarcinoma, conventional glioblastoma multiforme, breast invasive ductal carcinoma, colon adenocarcinoma, and glioblastoma having the greatest prevalence [] The PTEN Hamartoma Tumor Syndrome Foundation was founded to find treatments or therapies for PTEN Syndromes by funding research, providing PHTS education, supporting patients, and by raising awareness. For More information: www.PTENFoundation.or

PTEN mutation: A potential prognostic factor associated

PTEN Mutations as a Cause of Constitutive Insulin

PTEN mutation in breast cancer. SSCP analysis identified no abnormal single-strand conformation in the 10 normal tissues adjacent to the tumor. Among the 45 fresh breast carcinoma samples, 3 band shifts were identified by PCR-SSCP . However, only 1 mutation was confirmed in exon 2 by sequencing. The PTEN mutation PTEN hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas.These conditions include: Cowden syndrome - associated with a high risk for benign and malignant (cancerous) tumors of the thyroid, breast, and uterus. Affected people may also have macrocephaly and characteristic skin abnormalities.. General information; Gene symbol: PTEN: Gene name: phosphatase and tensin homolog: Chromosome: 10: Chromosomal band: q23: Imprinted: Unknown: Genomic reference: LRG_31 PTEN mutation-negative patients were strongly associated with a haplotype block spanning a region upstream of PTEN and the gene's first intron. Furthermore, allelic combinations contributed to the phenotypic complexity of this syndrome. Taken together,.

Disease . PTEN hamartoma tumor syndrome (PHTS). Description . PTEN hamartoma tumor syndrome (PHTS) is an autosomal dominant condition caused by germline mutations in PTEN.PHTS is associated with predisposition for benign and malignant hamartoma tumors and includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome, and Proteus-like syndrome PTEN Mutation (germline) Back to Biomarkers List Associated Genetic Biomarkers Overview. Gene Location . 10q23.31. Pathway PI3K/AKT1/MTOR. Gene PTEN. AACR GENIE data is not categorized as Somatic or Germline. To see GENIE data for this alteration, click. A PTEN genetic test looks for a mutation in the gene called PTEN. If you have the mutation, you may get several noncancerous tumors called hamartomas. You may also be at higher risk for getting cancer. Learn more PTEN gene encodes a 403 amino acid cytosolic lipid phosphatase that negatively regulates AKT activity by dephosphorylating phosphatidylinositol 3,4,5-trisphosphate (PIP 3) There is a secreted form of PTEN referred to as PTEN-Long or PTEN-L; PTEN-L includes an extra 173 amino acids at the N terminal of PTEN; PTEN-L secreted from one cell can exhibit phosphatase activity in neighboring cells.

In this assay, the Cowden disease mutation PTEN-G129E behaved similarly to PTEN-C124S, consistent with the ablation of the tumor-suppressor activity of PTEN by this mutation (Fig. 4). Significantly, coexpression of a constitutively active, membrane-targeted PKB/Akt ( 24 ) completely reverted the PTEN phenotype in that PTEN-positive cells could now be recovered despite the presence of wild-type. ATCC stands ready to support our customers' needs during the coronavirus pandemic. If you experience any issues with your products or services, please contact ATCC Customer Service at sales@atcc.org.For Technical questions please contact tech@atcc.org.Thank you PTEN World is for people with PTEN hamartoma tumor syndrome (PHTS), Cowden syndrome (CS), or Bannayan-Riley-Ruvalcaba syndrome (BRRS) and their families. Members may support each other on their profiles and in the discussion forum. If you'd like to join our support group, then we hope you'll sign up This disambiguation page lists articles associated with the title PTEN. If an internal link led you here, you may wish to change the link to point directly to the intended article. This page was last edited on 14 August 2017, at 13:55 (UTC). Text is available under the. PTEN mutations were detected in 37 of 67 (55%) specimens. Among 47 mutations, frameshifts (57%) and mutations in exon 8 (38%) were most frequent. In univariate analysis, a factor of PTEN mutation only outside exons 5-7 was associated with significantly better survival ( P = 0.02), although mutation in any exon of PTEN was not ( P = 0.33)

Clinical Significance of PTEN Deletion, Mutation, and Loss

  1. COSMIC search results. Your search term PTEN was an exact match for the COSMIC gene PTEN.A search of the whole COSMIC database returned results in 3 sections of the database.Mor
  2. PTEN The P T E N gene is a tumor suppressor gene. Tumor suppressor genes slow down cell division, repair DNA mistakes, or tell cells when to die. When they don't work properly, cells can grow out of control, which can lead to cancer
  3. There are risk management options to detect cancer early or lower the risk to develop cancer. It is important to discuss these options with your doctor, and decide on a plan that best manages cancer risks
  4. The PTEN mutation frequency of 23% (3/13) resembles the one reported by Butler et al. from a subset of individuals with ASD and extreme macrocephaly [Butler et al., 2005]. It is also interesting to note that only 25% of PHTS subjects have pathologic germline mutations in the PTEN gene [Ngeow & Eng, 2016; Tan et al., 2011]
  5. if a loss of function mutation in PTEN occurred, what would happen to the insulin signalling pathway (enhanced or inhibited)? explain your answer. Show transcribed image text. Expert Answer . The insulin signalling pathway would be enhanced in the absence of PTEN

PTEN Hamartoma Tumor Syndrome Children's Hospital of

Potential therapeutic target for prostate cancers with PTEN mutation Date: September 24, 2019 Source: George Washington University Summary: PTEN, a tumor suppressor gene mutated in about 20% of. Protein Mutation Frequency in Cancer. The 'lollipop plot' above illustrates recurrent (observed in 3 or more out of 4440 TCGA tumor samples from 15 cancer types) and therefore potentially oncogenic missense mutations (click on 'Show Cancer Mutations')

PTEN Hamartoma Tumor Syndrome - NORD (National

SF1670 is a highly potent and specific PTEN inhibitor with IC50 of 2 μM. Cell Mol Immunol , 2020, 10.1038/s41423-020-0363-5 Aging (Albany NY) , 2020, 13;12(7):6352-636 Where else would a PTEN patient want to be than with Dr. Charis Eng, the geneticist who discovered the gene our mutation is on? Having a single point of Cleveland contact to plan my visit, coordinate my team care, and follow up with questions brought focus and a sense of manageability to my family and me Mutation In PTEN Gene Can Cause Cancer And Autoimmune Disease Date: September 27, 1999 Source: Memorial Sloan-Kettering Cancer Center Summary: Although it has been known that a mutation in both. I am a patient with a PTEN mutation called Cowden's Syndrome. I am a cancer survivor. I have a teenager with 2 rare diseases, and a brain that runs 24/7. We are immune compromised. I am a NYC Public School Teacher. My husband is an essential worker. Daily the news reports are often silenced in my house. I know what's going on around me PTEN mutations were first reported in individuals with CS in 1997.5 6 It was subsequently suggested that approximately 80% (30 of 37) of individuals with a clinical diagnosis of CS have a detectable germline coding sequence mutation in PTEN.7 However, variable mutation detection rates have been found in other studies, including three of 27 (11%),8 nine of 19 (47%),5 and eight of 13 (61%.

Germline mutation in the PTEN gene is the genetic basis of PTEN hamartoma tumor syndrome with the affected individuals harboring features of autism spectrum disorders. Characterizing a panel of 14 autism‐associated PTEN missense mutations revealed reduced protein stability, catalytic activity, and subcellular distribution. Nine out of 14 (64%) PTEN missense mutants had reduced protein. Abstract: Cowden syndrome (CS), an autosomal dominant disorder, is one of a spectrum of clinical disorders that have been linked to germline mutations in the phosphatase and tensin homolog (PTEN) gene.Although 70-80% of patients with CS have an identifiable germline PTEN mutation, the clinical diagnosis presents many challenges because of the phenotypic and genotypic variations Purpose: The tumor suppressor PTEN gene and the PIK3CA oncogene are frequently mutated in uterine endometrioid carcinoma (UEC). PTEN mutations are also common in complex atypical hyperplasia (CAH), the precursor lesion of UEC. The status of PIK3CA has not yet been explored in CAH. In this study, we evaluated both CAH and UEC for PTEN and PIK3CA mutations Diverse Mutationen sind bekannt, welche die Funktionalität von PTEN beeinflussen. Bei Verlust der Phosphataseaktivität geht die hemmende Wirkung auf die Signaltransduktion verloren und eine unkontrollierte Zellproliferation ist die Folge. Einige Mutationen sind u.a. Ursache für das Bannayan-Riley-Ruvalcaba-Syndrom und das Cowden-Syndrom

We wanted to find out more about PTEN, and other genes it might rely on, to offer new treatment options for those with the PTEN mutation, said Ray-Chang Wu, Ph.D., associate professor of. A Common Cancer Mutation. One gene mutation that's been well studied, in PTEN, is the second most common mutation found in tumors. Cancer researchers have focused on it for many years in an attempt to understand how the faulty version of PTEN enables cancer to develop Moreover, PTEN mutation was reported to occur in 2 of 35 relapsed T-ALL as a secondary event during disease progression. 3 As discussed below, the clinical relevance of PTEN mutations in pediatric. First, PTEN gene mutations are particularly frequent among the ~15% of colorectal carcinomas driven by microsatellite instability , whereas the classical tumour-suppressor gene mechanism that combines mutation of one allele and loss of the other allele would rather be expected to apply to colorectal carcinomas driven by chromosomal instability (CIN) CLEVELAND CLINIC ADULT CLINICAL SCORING FOR PTEN TESTING The Cleveland Clinic adult clinical scoring system is a weighted method that permits estimation of individual patient probability of PTEN mutation. This was derived through analysis of the only prospective, and largest-known multicenter study executed in the genetics community setting. 1 This study involved 3,024 probands recruited over.

PTEN (phosphatase and tensin homolog) gene mutation is associated with a few conditions known as PTEN-related diseases, with relatively similar clinical and radiological manifestations. They include: Bannayan-Riley-Ruvalcaba; COLD syndrome. Cowden syndrome; Lhermitte-Duclos disease; Those not formally fulfilling the criteria of PTEN-related diseases are often described as PTEN hamartoma tumor. Mutation of K342 or K344 (but not other lysine residues) to arginine, either alone or in combination, decreased WWP1-mediated K27-linked polyubiquitination of PTEN (Fig. 1I and fig. S1L), whereas the protein turnover rates of the PTEN K342R and K344R mutants were similar to that of WT PTEN (fig. S1M) Phosphatase and TENsin homolog deleted on chromosome 10 (PTEN) is a tumor suppressor gene located at chromosome 10q23.31, encoding for a 403-amino acid protein that possesses both lipid and protein phosphatase activities. The main function of PTEN is to block the PI3K pathway by dephosphorylating phosphatidylinositol (PI) 3,4,5-triphosphate to PI-4,5-bisphosphate thus counteracting PI3K function PTEN (BZS, MHAM, MMAC1, PTEN1, TEP1) protein expression summary. Disease mutation, Tumor suppressor: Ligand (UniProt) i. Lipid-binding: Gene summary (Entrez) i This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The. PTEN mutations are found in a subset of patients with Proteus syndrome, a genetically heterogeneous condition. The molecular diagnosis of PTEN mutation positive cases classifies Proteus syndrome patients as part of the PTEN hamartoma syndrome spectrum

Germline PTEN mutation/deletion analysis was performed. Of the 2945 patients, 127 (123 of 2548 and 4 of 397, respectively) patients having clear pathogenic PTEN mutations were eligible for this study. Esophagogastroduodenoscopy, colonoscopy, and pathology reports were reviewed ECC-1 cells with a PTEN mutation (V317 frame shift, exon 8) were less sensitive to docetaxel with a mean IC50 of 18.2 ng/ml, while ECC1 cells were sensitive to 2 Gy radiation with a relative.

PTEN-hamartomatous tumour syndromes. In addition to a wide variety of symptoms and signs, which can be manifest as Cowden (CS) and Bannayan-Riley-Ruvalcaba syndromes (BRRS), individuals with a PTEN mutation are commonly (90%) found to have polyps on upper or lower GI endoscopy Le syndrome des hamartomes par mutation du gène PTEN comprend le syndrome de Cowden, le syndrome de Bannayan-Riley-Ruvalcaba, le syndrome de Protée et le syndrome de Protée-like.. Le syndrome de Cowden est un syndrome avec de multiples hamartomes et à haut risque de tumeurs bénignes ou malignes de la thyroïde, du sein ou de l'endomètre Study finds potential therapeutic target for prostate cancers with PTEN mutation. Sep 24, 2019. Beyond PTEN: Alternate genes linked to breast, thyroid and kidney cancer predisposition Ms. Douglass, 51, of Mount Dora, Fla., and her children carry a Pten mutation. Now, researchers have stumbled on a way to counter it — and the treatment may be as close as the local drugstore PTEN is a multi-functional tumor suppressor that is very commonly lost in human cancer. Observed in prostate cancer, glioblastoma, endometrial, lung and breast cancer to varying degrees. Up to 70% of prostate cancer patients have been observed to have loss of expression of the gene

PTEN遺伝子の変異. PTEN(phosphatase and tensine homolog)遺伝子 は、第 10番染色体の長腕(10q22-23)にあるがん抑制遺伝子であり、phosphoinositide-3 kinase (PI3K)の経路を規定し、細胞周期の規定、細胞増殖、細胞遊送などに関連しています.その変異によりPTEN蛋白が減少するために起るいくつかの疾患・症候. Gene symbol: Chromosomal location: Gene name: Mutation total: Log in: PTEN: 10q23.3: phosphatase and tensin homolog: 55 There is convincing evidence that having a fault in the PTEN gene as part of Cowden syndrome is associated with an increased risk of endometrial cancer. Around 1 in 4 women who have a PTEN gene fault are likely to develop endometrial cancer by the age of 70 years. Cowden syndrome is a rare inherited condition that is associated with some benign (non-cancerous) growths i Handout: Cowden Version Date: 2017 PTEN gene: What You Need to Know What does it mean to test positive for a PTEN gene mutation? Mutations in the PTEN gene cause a cancer predisposition condition called PTEN-hamartoma tumor syndrome (PHTS). Cowden syndrome is one of the PHTS syndromes Inherited Pten mutations are rare, striking one in 200,000. If the research holds up, however, it could be important to larger numbers of cancer patients. The mutation is not just inherited; the Pten gene is spontaneously mutated in many tumors. When that happens, the patient's prognosis is poor

Therapeutic targeting of cancers with loss of PTEN functio

Inhibition of the PI3K Pathway: Hope We Can Believe in

Summary of PTEN (BZS, MHAM, MMAC1, PTEN1, TEP1) expression in human tissue. We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again Tumor cell lines become more powerful research models and drug discovery tools when the genetic abnormalities that drive their phenotype are known. ATCC has created a list of ATCC tumor cell lines based on the gene mutation information maintained in the Sanger Institute COSMIC database It is well established that the PTEN (Phosphatase and Tensin Homolog) mutant is a frequently mutated gene found in clear cell renal cell carcinoma (ccRCC), making it a potential biomarker for individualized treatment opinions. Here, in the present study, we designed a method to evaluate the significance of the PTEN mutation in the prognosis and drug selection of ccRCC, determine the potential. Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7:507. Zori RT, Marsh DJ, Graham GE, et al. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome 10-44% de novo PTEN mutation Penetrance ~100% by adulthood Cancer predisposition Neurodevelopmental abnormalities Phenotypic variability (i ncluding intrafamilial) Malignancies Breast cancer Epithelial thyroid cancer Renal cancer Endometrial cancer Colorectal cancer Melanoma Neurodevelopmental Macrocephaly Dolichocephaly Autism spectrum disorde

The Cetuximab ExperienceGenomic Profiling Defines Subtypes of Prostate Cancer with

Novel Germline PTEN Mutation Associated with Cowden

No matter how they acquired their PTEN mutation, people with PTEN hamartoma tumor syndrome have a 50% or 1 in 2 chance of passing it on to their children. As people with PTEN hamartoma tumor syndrome get older, the working copy of PTEN often becomes changed within some of their cells Objective To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog ( PTEN ), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate. PTEN Mutation Hamartoma Tumor Syndrome (PHTS) is caused by a genetic abnormality that leads to uncontrolled growth of different tissues in various parts of the body. It is better known by one of the clinical syndromes described before the gene mutation was discovered: Cowden syndrome or Bannayan-Riley-Ruvacalba syndrome Germline mutations of PTEN (phosphatase and tensin homolog deleted on chromosome 10) are associated with the multihamartomatous disorder Cowden syndrome (CS). Moreover, patients with CS with germline PTEN promoter mutations have aberrant PTEN protein expression and an increased frequency of breast cancer. Here, we examined the downstream effect of five PTEN promoter variants (−861G/T.

High grade gliomas 8 august 2016

PTEN: One Gene, Many Syndromes - Eng - 2003 - Human

The PTEN gene is often mutated in primary human tumors and cell lines, but the low rate of somatic PTEN mutation in human breast cancer has led to debate over the role of this tumor suppressor in this disease. The involvement of PTEN in human mammary oncogenesis has been implicated from studies showing that germline PTEN mutation in Cowden disease predisposes to breast cancer, the frequent. Because of the high lifetime risk and early onset of medical issues with PTEN mutations, people of reproductive age may wish to speak with a fertility expert prior to having children. There are options using assisted reproduction technology and preimplantation genetic diagnosis for parents to select embryos that are free of an inherited PTEN mutation

comprehensive functional analysis of PTEN mutations

PTEN mutation, methylation and expression in breast cancer patients HONG-Y AN ZHANG 1* , FENG LIANG 2* , ZHI-LING JIA 1 , SAN-T AI SONG 3 and ZE-FEI JIANG with PTEN mutation were NR. Razis et al. (48) 72 FFPE mCRC IHC and FISH PTEN gene deletion detected only by FISH associated. with no response. Loupakis et al. (49) 1 02 FFPE mCRC (primar y Loss of heterozygosity (LOH) at locus 10q23.3 and mutation of the PTEN tumor suppressor gene occur frequently in both endometrial carcinoma and ovarian endometrioid carcinoma. To investigate the potential role of the PTEN gene in the carcinogenesis of ovarian endometrioid carcinoma and its related subtype, clear cell carcinoma, we examined 20 ovarian endometrioid carcinomas, 24 clear cell. Mutation and deletion of the PTEN tumor suppressor gene occurs in about 40% of cndometrial carcinomas. The purpose of this study was to determine whether PTEN mutations also are present in endometrial hy- perplasias, which are premalignant precursor Abstract. Inactivation of phosphatase and tensin homology deleted on chromosome 10 (PTEN) is linked to increased PI3K-AKT signaling, enhanced organismal growth, and cancer development.Here we generated and analyzed Pten knock-in mice harboring a C2 domain missense mutation at phenylalanine 341 (Pten FV), found in human cancer.. Despite having reduced levels of PTEN protein, homozygous Pten.

Nutlin-3 overcomes arsenic trioxide resistance and tumorMacrocephaly, multiple lipomas, and hemangiomasCancers | Free Full-Text | Enteric Bacteria and CancerExclusion of PTEN, CTNNB1, and PTCH as candidate genes for

The structure also reveals that PTEN has a C2 domain. The PTEN C2 domain binds phospholipid membranes in vitro, and mutation of basic residues that could mediate this reduces PTEN's membrane affinity and its ability to suppress the growth of glioblastoma tumor cells We established that MEX3C catalyzes K27-linked polyubiquitination of PTEN (referred as PTEN K27-polyUb) at lysine 80. K80R mutation abolishes the K27-linked polyubiquitination. PTEN K27-polyUb switches the enzymatic activity of PTEN from a phosphoinositol phosphatase to a protein serine/threonine phosphatase PTEN genetic testing revealed the novel c.71A > T (p.Asp24Val) mutation, whose deleterious effect, suggested by conservation data and in silico tools, was definitely demonstrated by the incapacity of mutant PTEN to inhibit Akt phosphorylation when used to complement PTEN-null cells PTEN sequencing in patients with autism with or without macrocephaly has a much lower diagnostic yield with less than 1% of patients have a mutation identified. Analytical Sensitivity The majority of PTEN mutations reported in association with autism with macrocephaly are missense mutations Moreover, PTEN loss and EGFR mutation co-occurred in 1 out of 24 EGFR-mutant patients in a genomic analysis of 140 lung adenocarcinomas, thus confirming the clinical relevance of our findings. Thus, PTEN loss may represent an additional mechanism of initial or acquired resistance to erlotinib-induced apoptosis in EGFR-mutant NSCLC mutationen pten gen. Web. Suche nach medizinischen Informationen. Deutsch. English Español Português Français Italiano Svenska Deutsch. Startseite Fragen und Antworten Statistiken Spenden Werben Sie mit uns Kontakt Datenschutz. Anatomie 13. Zellinie Zellinie, Tumor-.

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