Tissue Sample Collection From Patients With Fanconi Anemia
PURPOSE: This laboratory study is collecting and storing tumor tissue samples from patients with Fanconi anemia.
- Acquire rare solid tumor samples from patients with Fanconi anemia in order to create a Fanconi Anemia Cell Repository at the Oregon Health and Science University Cancer Institute.
- Study repository tissue using a variety of molecular methods, including gene microarrays.
- Develop cancer cell lines that are publicly available from tissue archived from patients with Fanconi anemia.
OUTLINE: Tumor biopsies are collected from patients with Fanconi anemia and archived for future molecular studies, cell line generation, and general usage by the research community at large. Medical information about the patient's cancer is also archived.
PROJECTED ACCRUAL: Not specified.
biologic sample preservation procedure, biopsy
Knight Cancer Institute at Oregon Health and Science University
National Cancer Institute (NCI)
Results (where available)
- Source: http://clinicaltrials.gov/show/NCT00899522
- Information obtained from ClinicalTrials.gov on July 15, 2010
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To provide prenatal diagnosis for a pregnant woman who had given birth to a child with Fanconi anemia with combined next-generation sequencing (NGS) and Sanger sequencing.
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Medical and Biotech [MESH] Definitions
A Fanconi anemia complementation group protein that undergoes PHOSPHORYLATION by CDC2 PROTEIN KINASE during MITOSIS. It forms a complex with other FANCONI ANEMIA PROTEINS and helps protect CELLS from DNA DAMAGE by genotoxic agents.
A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
An E3 UBIQUITIN LIGASE that plays a key role in the DNA damage response pathway of FANCONI ANEMIA PROTEINS. It is associated with mono-ubiquitination of FANCD2 PROTEIN and the redistribution of FANCD2 to nuclear foci containing BRCA1 PROTEIN.
A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.