ZIA CP010144 10548 (ZIA) | |||
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Title | DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Kratz, Christian | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $261,878 | Project Dates | 09/15/2009 - N/A |
Fiscal Year | 2010 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (45.0%) Cancer (100.0%) Childhood Cancers (60.0%) |
Eye (5.0%) Kidney Cancer (5.0%) Kidney Disease (5.0%) Lung (75.0%) Ovarian Cancer (5.0%) Pharynx (5.0%) |
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Research Type | |||
Endogenous Factors in the Origin and Cause of Cancer Interactions of Genes and/or Genetic Polymorphisms with Exogenous and/or Endogenous Factors |
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Abstract | |||
This project is studying families with pleuropulmonary blastoma (PPB). This newly described syndrome is caused by germline mutations of DICER1 and represents the first known cancer predisposition syndrome that is due to altered microRNA biogenesis. The goals of this study include: (1) establish a cohort of patients with PPB and/or specific neoplasms of the PPB spectrum (cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma, others to be defined), in order to determine the frequency of DICER1 germline mutations in these patients and their family members. This will also allow us to identify DICER1 mutation-negative patients who will be crucial for future gene discovery efforts; (2) characterize the clinical phenotype of, and study the incident and prevalent cancer rates in these patients and their family members; (3) identify differences between patients with a germline mutation in DICER1 (or another gene(s) from this pathway) who do develop cancer and those who do not develop cancer; (4) develop evidence-based management guidelines for cancer prevention and risk-reduction strategies for PPB patients and their family members; (5) evaluate various parameters related to psychosocial and behavioral issues resulting from being a member of a family at increased risk of PPB; (6) create a biospecimen repository of carefully-annotated tissue samples for use in subsequent etiologically-oriented translational research projects. |