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Tissue Sample Collection From Patients With Fanconi Anemia

19:57 EDT 24th April 2014 | BioPortfolio


RATIONALE: Collecting and storing samples of tumor tissue from patients with Fanconi anemia to test in the laboratory may help the study of cancer in the future.

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.


Study Design



Fanconi Anemia


biologic sample preservation procedure, biopsy


Knight Cancer Institute at Oregon Health and Science University
United States




National Cancer Institute (NCI)

Results (where available)

View Results


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.

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