View clinical trials related to Germline Mutation Abnormality.
Filter by:Robotic mastectomy and immediate reconstruction have been introduced in 2015. However, since robotic mastectomy is the latest surgical technique, there is a lack of studies prospectively comparing conventional mastectomy and immediate reconstruction with robotic mastectomy. For this reason, this study is designed to establish a single institution cohort study that prospectively collects patients undergoing mastectomy and reconstruction. This study was initially designed as a single institution study, however, currently, the study was extended to the multicenter study including 18 institutions over the country. Using the established prospective cohort data, a comparative study of robotic mastectomy with conventional mastectomy and reconstruction, and cost-effectiveness and satisfaction of robotic endoscopic surgery, and cost-effectiveness and satisfaction of reconstructive surgery are to be analyzed.
This study will assess the hereditary component of pancreatic cancer in the largest series of patients up to date through the parallel analysis of 62 cancer-associated genes. The investigators will obtain germline DNA from blood samples that have been collected from 2000 to 2019 from patients with pancreatic cancer. The investigators plan to analyze germline DNA for mutations and single nucleotide polymorphisms (SNPs) in genes that have been previously linked to a predisposition towards cancer. The outcome can provide useful insight on the overall understanding of pancreatic pathogenesis while possible associations with age of diagnosis, tumor stage and other cancer types might arise. In addition to that, it can lead to the characterization of new variants or even new genes that predispose to pancreatic cancer. Confirmed deleterious mutations in established cancer genes can provide valuable clinical information that can lead to effective, individualized patient management. Furthermore, family relatives of the individuals found to carry mutations can also benefit from established screening protocols for various cancer types, such as frequent colonoscopies in the case of an MMR mutation predisposing for Lynch syndrome, or preventative surgeries in the case of a deleterious BRCA1 or BRCA2 mutation. In addition to that, specific therapies that have been previously shown to be effective in breast or ovarian cancer patients with BRCA1 & BRCA2 mutations, such as platinum-based chemotherapy and PARP inhibitors can be also effective in mutations carriers with pancreatic cancer.