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Showing 25–36 of 12 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Cancer Predisposition Syndrome Clear all
Recruiting No phase listed Observational

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

NCT01238250
View directory record Official record
Conditions
16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1
Interventions
Not listed
Lead sponsor
Simons Searchlight
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2050
U.S. locations
2
States / cities
Boston, Massachusetts • Lewisburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Sep 21, 2026, 2:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

NCT03160274
View directory record Official record
Conditions
Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions, Kidney Neoplasms, Bone Cancer, Thyroid Neoplasms, Other Cancer
Interventions
Genetic screening
Genetic
Lead sponsor
The University of Texas Health Science Center at San Antonio
Other
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2030
U.S. locations
1
States / cities
San Antonio, Texas
Source: ClinicalTrials.gov public record
Updated Oct 14, 2025 · Synced Sep 21, 2026, 2:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Cancer in Inherited Bone Marrow Failure Syndromes

NCT00027274
View directory record Official record
Conditions
Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome, Inherited Bone Marrow Failure Syndrome, Aplastic Anemia
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Day to 100 Years
Enrollment
4,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2001
U.S. locations
2
States / cities
Bethesda, Maryland • Rockville, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 15, 2026 · Synced Sep 21, 2026, 2:21 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Biomarker Monitoring in TP53 Mutation Carriers

NCT02289326
View directory record Official record
Conditions
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
Interventions
Not listed
Lead sponsor
Scripps Health
Other
Eligibility
Not listed
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2016
U.S. locations
1
States / cities
La Jolla, California
Source: ClinicalTrials.gov public record
Updated Sep 18, 2019 · Synced Sep 21, 2026, 2:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

NCT04792463
View directory record Official record
Conditions
Uveal Melanoma, Cutaneous Melanoma, BAP1 Gene Mutation, Renal Cell Carcinoma, Mesothelioma, Hepatocellular Carcinoma, Cholangiocarcinoma, Meningioma Atypical
Interventions
Not listed
Lead sponsor
Mohamed Abdel-Rahman
Other
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2026
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 8, 2026 · Synced Sep 21, 2026, 2:21 PM EDT
Not yet recruiting Phase 1Phase 2 Interventional

Prenatal Transplantation for Fetuses With Fanconi Anemia

NCT07408583
View directory record Official record
Conditions
Fanconi Anemia, Anemia, Hypoplastic, Congenital, Congenital Bone Marrow Failure Syndromes, Bone Marrow Failure Disorders, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA Repair-Deficiency Disorders, Cancer Predisposition Syndrome
Interventions
IUHSCT for FA-affected fetuses
Biological
Lead sponsor
Agnieszka Czechowicz
Other
Eligibility
Not listed
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2028 – 2033
U.S. locations
2
States / cities
San Francisco, California • Stanford, California
Source: ClinicalTrials.gov public record
Updated Jun 15, 2026 · Synced Sep 21, 2026, 2:21 PM EDT
Recruiting Phase 1 Interventional Accepts healthy volunteers

Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency

NCT06090669
View directory record Official record
Conditions
Inherited Bone Marrow Failure Syndrome, Familial Platelet Disorder With Predisposition to Myeloid Malignancies
Interventions
imatinib, TruSight Oncology
Drug · Device
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 120 Years
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 6, 2026 · Synced Sep 21, 2026, 2:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome

NCT04431024
View directory record Official record
Conditions
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
30 Years to 120 Years
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2038
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 7, 2026 · Synced Sep 21, 2026, 2:21 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer

NCT03030404
View directory record Official record
Conditions
Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC), Familial Diffuse Gastric Cancer
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
2 Years and older
Enrollment
733 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 15, 2026 · Synced Sep 21, 2026, 2:21 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study

NCT01247597
View directory record Official record
Conditions
Pleuropulmonary Blastoma, Cystic Nephroma, Ovarian Sertoli-Leydig Cell Tumors, Ocular Medulloepithelioma, Nasal Chondromesenchymal Hamartoma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Month to 99 Years
Enrollment
1,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2011
U.S. locations
2
States / cities
Bethesda, Maryland • Rockville, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 15, 2026 · Synced Sep 21, 2026, 2:21 PM EDT
Completed No phase listed Observational

Incidence of Malignant Peripheral Nerve Sheath Tumor (MPNST) Development in Participants With Neurofibromatosis Type 1 (NF1) Receiving and Not Receiving Medical Therapies Directed at Plexiform Neurofibromas (PN)

NCT04774289
View directory record Official record
Conditions
Neurofibromatosis 1, Peripheral Nerve Neoplasms, Malignant
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Month and older
Enrollment
296 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 18, 2024 · Synced Sep 21, 2026, 2:21 PM EDT
Recruiting No phase listed Observational

Collection of Blood From Patients With Cancer, Other Tumors, or Tumor Predisposition Syndromes for Genetic Analysis

NCT01441089
View directory record Official record
Conditions
Prostate Cancer, Breast Cancer, Lung Cancer, Ovarian Cancer, Lymphoma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
3 Years and older
Enrollment
1,100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 30, 2026 · Synced Sep 21, 2026, 2:21 PM EDT