View clinical trials related to Predisposition, Genetic.
Filter by:The participants are being asked to take part in this research study because the participant is a child who has been diagnosed with cancer and has completed genetic testing to find out if the participant has a variant in a gene that may predispose the participant to cancer, and/or the participants are the parents (i.e., guardian/caregiver) of this child. This research is being done to understand how finding out the results of genetic testing during childhood impacts the participant and family. The investigator will compare the emotions and behavior of parents and children based on the genetic testing results. Primary Objective - Examine the impact of genetic testing result disclosure for a pathogenic (P)/likely pathogenic (LP) germline variant in a known cancer predisposing gene versus negative results on parent adjustment (i.e., emotional functioning, cancer worry, symptom interpretation, and genetic testing related worry/distress). - Examine the impact of genetic testing result disclosure for a P/LP germline variant versus negative results on parenting (i.e., responses to children's symptoms, overprotectiveness, parent-child communication, cohesion, and expressivity in the family). Exploratory Objectives - Examine the impact of genetic testing result disclosure (P/LP versus negative results) on child adjustment (i.e. emotional functioning, cancer worry, self-perception, and life meaning and purpose). - Examine the impact of disclosing a variant of uncertain significance (VUS) on parent adjustment, parenting, and child adjustment. - Examine the indirect association between genetic testing result disclosure (P/LP versus negative results) and child adjustment through parental adjustment and parenting behavior. - Qualitatively identify children and parents' perspectives of how disclosure of a cancer predisposition has affected children's emotional, social, personal, and familial functioning.
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.