[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT04620278":3,"trial-entities:NCT04620278":78,"trial-summary:NCT04620278":82},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":20,"study_type":23,"primary_purpose":24,"phases":25,"enrollment_info":26,"interventions":29,"primary_outcomes":34,"secondary_outcomes":43,"sex":47,"minimum_age":24,"maximum_age":24,"healthy_volunteers":14,"eligibility_criteria":48,"std_ages":52,"locations":56,"central_contacts":66,"overall_officials":72,"references":76,"see_also_links":77},"NCT04620278","HSC20200666H","Genetic Investigation of Cancer Predisposition","NOT_YET_RECRUITING","2035-12","2026-01","2026-01-06","2026-10","The University of Texas Health Science Center at San Antonio","OTHER",false,"Clinical information and samples (blood, saliva, and tumor) will be collected from patients with multiple cancers and\u002For a family history of cancer as well as from affected and unaffected relatives; samples will be systematically sequenced and evaluated for candidate driver mutations.","Genetic screening will be performed on DNA (and\u002For RNA) isolated from collected samples from affected individuals by whole exome sequencing or RNA sequencing using in-house pipeline to identify candidate sequence variants. These variants will be tested for segregation with the phenotype in other relatives (affected\u002Funaffected). Candidate variants will be subjected to additional downstream analysis, to be guided by the actual type of gene\u002Fvariant.",[18,19],"Genetic Predisposition","Cancer",[21,22],"Genetic analysis","Early diagnosis","OBSERVATIONAL",null,[],{"count":27,"type":28},100,"ESTIMATED",[30],{"type":31,"name":32,"description":33},"GENETIC","DNA or RNA Sequencing","Samples will be used for whole exome (DNA) or RNA sequencing",[35,39,41],{"measure":36,"description":37,"timeFrame":38},"Identification of Rare Genetic Variant","Genetic screen detects a mutation that is likely responsible for tumor development","through study completion- approximately 6-12 months",{"measure":40,"description":37,"timeFrame":38},"Identification of somatic (tumor only) mutation",{"measure":42,"description":37,"timeFrame":38},"Identification of Rare Genetic Variant in family members",[44],{"measure":45,"description":46,"timeFrame":38},"Identification of clinical spectrum of the disease in families","Genetic and clinical analysis reveals clinical features not previously assigned to the disease","ALL",{"inclusion":49,"exclusion":50,"raw_text":51},[],[],"Inclusion Criteria:\n\n1. Any age\n2. Meets at least ONE of the following:\n\n   1. Personal history (with documented diagnosis) of cancer before the age of 50\n   2. Personal history of more than one primary cancer\n   3. Documented diagnosis of cancer AND family history of that same cancer type or multiple other cancers that do not fit classical criteria of hereditary cancer syndromes\n   4. Documented diagnosis of a rare cancer AND family history of rare cancers that do not fit classical criteria of hereditary cancer syndromes\n   5. There is the same type of cancer in several generations of a family\n   6. Documented diagnosis of multicentric cancers (e.g bilateral cancers in paired organs, or multifocal cancers in single organs) that usually occur as single lesions when presented sporadically\n   7. Early onset cancer (before the age of 50, or breast cancer before age 45) AND family history of early onset cancer Capable of providing access to detailed medical records and family history of cancer\n\nExclusion Criteria:\n\n1. Established genetic diagnosis of a known hereditary cancer syndrome that is compatible with the clinical presentation\n2. Incarcerated",[53,54,55],"CHILD","ADULT","OLDER_ADULT",[57],{"facility":58,"city":59,"state":60,"zip":61,"country":62,"geoPoint":63},"University of Texas Health Science Center","San Antonio","Texas","78229","United States",{"lat":64,"lon":65},29.42412,-98.49363,[67],{"name":68,"role":69,"phone":70,"email":71},"Patricia L Dahia, MD, PhD","CONTACT","210-567-4866","dahia@uthscsa.edu",[73],{"name":68,"affiliation":74,"role":75},"University of Texas Health at San Antonio","PRINCIPAL_INVESTIGATOR",[],[],{"nct_id":4,"conditions":79,"biomarkers":81},[80],"Malignant Neoplasm",[],{"nct_id":4,"found":83,"summary":84,"prompt_version":93},true,{"design":85,"status":86,"heading":6,"summary":87,"follow_up":88,"word_count":89,"commitments":90,"compensation":91,"drugs_mentioned":92},"This is an observational study that plans to enroll 100 participants. It is not a treatment study, but rather aims to understand genetic factors related to cancer.","completed","This observational study, called \"Genetic Investigation of Cancer Predisposition,\" aims to understand why some people develop cancer by looking for specific genetic changes. Researchers will collect clinical information and samples like blood, saliva, and tumor tissue from people with multiple cancers or a family history of cancer. They will use DNA or RNA sequencing to identify rare genetic changes that might be linked to cancer. The study will also look for these genetic changes in family members. The goal is to find rare genetic variants and tumor-specific mutations. This study is open to people of all ages who have a personal history of cancer before age 50, more than one primary cancer, or cancer with a family history that doesn't fit typical hereditary cancer patterns. The current status of this study is unclear.","The primary endpoints, such as identifying genetic variants, will be measured through study completion, which is approximately 6-12 months.",133,"You would provide clinical information and samples such as blood, saliva, and tumor tissue. These samples will be used for genetic sequencing.","Not stated in the trial record.",[32],"v2"]