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Mutation - ClinicalTrials.gov

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Last Updated: 04 June 2022

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Genetic Mutations and Response to Treatment in Gallbladder Cancer: A Hospital Based Cohort Study

"Gallbladder carcinoma is the most common form of biliary tract carcinoma and the third commonest digestive tract malignancy in India," says Sharma. Among the many causes of chronic inflammation are primary sclerosing cholangitis, ulcerative colitis, liver flukes, persistent Salmonella typhi and paratyphi infections, and Helicobacter infection. Both a small portion of GBC is attributed to hereditary disorders such as Gardner syndrome, neurofibromatosis type I, and hereditary non-polyposis colon cancer [2-3]. Of the multiple molecular changes identified in GBC, it has not yet been possible to determine which genes or controllers of the neoplastic process and distinguish them from "passenger" genes, some of which are mainly in sporadic malignant tumors such as GBC, in which epigenetic alterations predominate. PTEN encodes a protein with phosphatase activity that inactivates substrates like PI3K, on the other hand. PTEN is a tumor suppressor gene that encodes a protein with phosphatase function that inactivates substrates like PI3K. PTEN is a tumor suppressor gene that encodes a protein with phosphatase activity that inactivates substrates like PI3K. The absence of PTEN is also responsible for the activation of PI3K's PTEN is phosphata PTEN is phosphata PTEN has PI3K, which inactivates substrates such as PI3K phosphata PTEN is phosphata PTEN is phosphata PTEN phosphata PTEN phosphata PTEN. PTEN is phosphata PTEN phosphata PTEN is phosphata PTEN is phosphata P3K, PTEN, phosphata PTEN. PTEN is phosphata PTEN phosphata PTEN phosphata PTEN phosphata PTEN PIP3 is one of the most important effectors of the PI3K/AKT route, with mTOR-initiating protein synthesis that regulates apoptosis [8]. PTEN protein expression immunohistochemical expression is considered a reliable way to determine the gene's functional status [9-11]. "Using Next Generation Sequencing, the archived tissue will be tested for gene expression by molecular analysis using Next Generation Sequencing. ".

Source link: https://clinicaltrials.gov/ct2/show/NCT05404347


Functional Imaging in Subjects With Glucocerebrosidase Mutations

"An association of Gaucher disease and parkinsonism has been shown by parkinsonian studies in patients with Gaucher disease and an elevated risk of glucocerebrosidase mutations in patients of parkinsonism of various ethnicities. " Therefore, changes in GBA appear to be a more common risk factor than was expected for the development of sporadic Parkinson disease and related disorders. Patients with Gaucher disease and Gaucher carriers with parkinsonian symptoms are among the patients. Individuals with Gaucher disease and relatives of probands without GBA mutations, as well as patients without GBA mutations and healthy volunteers participating in NIMH clinical trials are among the control groups. The H2 15O PET is used to measure changes in resting regional cerebral blood flow correlated with regional shifts in cortical synaptic function and metabolism. "The substantia n. . . . " is also assessed by transcranial ultrasonography.

Source link: https://clinicaltrials.gov/ct2/show/NCT00302146


Screening Male BRCA Mutation Carriers: Effectiveness of Multispectral 3T Magnetic Resonance Imaging

"To determine the benefit of using Multispectral 3T MRI for prostate cancer screening in men with a high risk of developing early onset aggressive prostate cancer given known BRCA1 or BRCA2 mutation carrier status, with no prior prostate cancer diagnosis, independent of baseline PSA values. " "To determine the reliability of tumor targeting based on MRI and ultrasound tumor co-localization," the researcher says.

Source link: https://clinicaltrials.gov/ct2/show/NCT01990521


Detection of Somatic Mutations on Cell-free Circulating DNA in Potentially Aggressive Cutaneous Lymphomas

"Primary cutaneous lymphomas" are the second additional nodal localization of lymphomas and are caused by T-cell and B-cell phenotype lymphomas. The most aggressive B-cell lymphoma leg type is B-cell cutaneous diffuse large B-cell lymphoma. Mutations associated with solid tumor formation and metastatic outcomes have been found in plasma of patients, demonstrating the possibility of finding cell-free circulating tumor DNA in a blood sample. In nodal diffuse large B-cell lymphoma, the idea of liquid biopsies, which allows the detection of tumour mutation in plasma, has been proven.

Source link: https://clinicaltrials.gov/ct2/show/NCT02883517


Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3

"RDP has elements of both dystonia and Parkinson's disease-two neurological diseases, as well as motor and neuropsychological signs that jeopardize daily living. " This report, which is a follow-up to Dr. Allison Brashear's earlier research, aims to more specifically identify RDP and find out if mutations in the RDP gene are associated with atypical dystonias, Parkinson's disease, and other mobility disorders.

Source link: https://clinicaltrials.gov/ct2/show/NCT00682513


Radical Fimbriectomy for Young BRCA Mutation Carriers at Risk of Pelvic Serous Carcinoma

"The bulk of ovarian carcinomas related to BRCA 1 or 2 mutations are of fallopian tube origins, especially those from the fimbria's distant region. " These tubal, ovarian, or primary peritoneal carcinomas are almost always of the serous variety. The aim of the bilateral laparoscopic radical fimbriectomy, according to the investigators, is to eliminate potentially harmful dysplastic cells from which may cause this high grade tumor, while still maintaining a natural ovarian hormonal secretion. ".

Source link: https://clinicaltrials.gov/ct2/show/NCT01608074


Phase I/II Study of BGB-290 With Temozolomide in Recurrent Gliomas With IDH1/2 Mutations

"In patients with recurrent IDH1/2-mutant gliomas that have progressed on TMZ and another alkylator in Phase II"; "determine the overall response rate of BGB-290 with TMZ in patients with recurrent IDH1/2-mutant glioms. Determine the overall response rate of BGB-290 with TMZ in patients with recurrent IDH1/2-mutant glioma who have failed one alkylator with less than 12 months since last therapy in the Phase II region. Determine the safety and tolerability of the combination of PARP inhibitor BGB-290 and temozolomide in patients with recurrent IDH1/2 mutant glioma, as well as the maximum tolerated dose and analysis of dose-limiting toxicities in the Phase I group. In the Phase II portion, determine the overall response rate of BGB-290 with TMZ in patients with recurrent IDH1/2-mutant gliomas that have progressed on TMZ and another alkylator. Determine the overall response rate of BGB-290 with TMZ in patients with recurrent IDH1/2-mutant glioma who have failed one alkylator with fewer than 12 months since last treatment in the Phase II portion. Determine changes in tumor growth in subjects with non-enhancing glioma as a result of fluid attenuated inverse recovery tumor volume measurements of serial MRI examinations. Response Assessment in Neuro-Oncology for Low Grade Gliomas or survival assesses whether change in tumor growth rate in patients with non-enhancing glioma before and after treatment is linked to progression. Patients receive PARP inhibitor BGB-290 PO BID on days 1-28 and temozolomide PO QD on the schedule established in Phase I," PHASE II: Patients receive PARP inhibitor BGB-290 PO BID and temozolomide PO BID on the days 1-28 and temozolomide PO QD on the schedule established in Phase I.

Source link: https://clinicaltrials.gov/ct2/show/NCT03914742


BRCA1 and BRCA2 Mutations and Triple Negative Disease in Hispanic/Latino Breast Cancer Subjects

"Base/ Triple negative breast cancer is associated with BRCA gene mutations in several ethnicities, but in Hispanic/ Latino women, the connection between BRCA gene mutations and Basil/ triple negative breast cancer is unclear. " In BRCA mutation carriers, new medications, such as PARP inhibitors, may be particularly effective. OBJECTIVES: The primary aim of this study is to obtain saliva samples and histology results from up to 2000 Hispanic/Latino women with breast cancer as a source of DNA, as well as analyzing the BRCA1 and BRCA2 genes.

Source link: https://clinicaltrials.gov/ct2/show/NCT01251900


Validation of Mutation Analysis in Circulating Tumor DNA With a ddPCR Assay as Diagnostic and Follow-up Tool for Patients With a KIT Exon 11 Mutated GIST: GALLOP-11

"Patients diagnosed with GIST with a KIT exon 11 mutations that can be detected by our ddPCR assay are eligible. " In this way, we will investigate a homogenous patient population with GIST that responds well to initial TKI therapy. Patients in GALLOP-11 will have their follow-up as described in the European Society of Medical Oncology and Dutch guidelines, but at similar time points, blood draws for ctDNA analysis will be done. The primary aim is the negative predictive value of the ddPCR assay results in relation to the CT-scan and/or MRI scan findings at the same time point. Patients with progress within four scans are always evaluable, since positive results outweighs negative outcomes because it is known that ctDNA should have undergone quantitative changes before it is seen on CT-scans. ".

Source link: https://clinicaltrials.gov/ct2/show/NCT05178030

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions