Not provided
Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| K08EY033789 | U.S. NIH Grant/Contract | View source |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| National Eye Institute (NEI) | NIH |
Not provided
Not provided
Not provided
Not provided
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with presumed germline retinoblastoma due to RB1 mutation |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Targeted Long-read sequencing | Genetic | All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene |
|
| Measure | Description | Time Frame |
|---|---|---|
| Epigenomic and genomic profiling of the RB1 gene | Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1 | 5 years |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
patients with presumed or genetically confirmed retinoblastoma
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Debarshi Mustafi, MD PhD | Contact | 206-683-6305 | debarshi@uw.edu |
| Name | Affiliation | Role |
|---|---|---|
| Debarshi Mustafi, MD PhD | University of Washington | Principal Investigator |
| Andrew W Stacey, MD | University of Washington | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Washington | Recruiting | Seattle | Washington | 98109 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39724000 | Background | Stacey AW, Nakamichi K, Huey J, Stevens J, Waligorski N, Crotty EE, Van Gelder RN, Mustafi D. Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma. JCI Insight. 2024 Dec 26;10(4):e188216. doi: 10.1172/jci.insight.188216. | |
| 36325802 | Background | Nakamichi K, Stacey A, Mustafi D. Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma. Ophthalmic Genet. 2022 Dec;43(6):762-770. doi: 10.1080/13816810.2022.2141797. Epub 2022 Nov 3. |
| Label | URL |
|---|---|
| Related Info | View source |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Extract DNA from saliva or blood samples
|
| ID | Term |
|---|---|
| D012175 | Retinoblastoma |
| D012008 | Recurrence |
| ID | Term |
|---|---|
| D018302 | Neoplasms, Neuroepithelial |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009380 | Neoplasms, Nerve Tissue |
| D019572 | Retinal Neoplasms |
| D005134 | Eye Neoplasms |
| D009371 | Neoplasms by Site |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D012164 | Retinal Diseases |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
Not provided
Not provided