ZIA CP010144-10549 (ZIA) | |||
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Title | New Cancer Syndromes | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Stewart, Douglas | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $67,214 | Project Dates | 00/00/0000 - 00/00/0000 |
Fiscal Year | 2017 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (45.0%) Cancer (100.0%) Cancer Survivorship (10.0%) Childhood Cancers (100.0%) |
Childhood Leukemia (15.0%) | ||
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 | |||
"""Our ?New Cancer Syndromes? project is focused on exome sequencing of pedigrees and cohorts at increased risk for cancer, especially in children. A primary focus is the interpretation of panel and exome data from 758 children with neuroblastoma (with Javed Khan, CCR). We have identified numerous putative novel genes. A mature manuscript has been prepared. We are working with Dr. Khan and David Malkin to analyze whole-exome and whole-genome data from 395 children with rhabdomyosarcoma. As of July 2017, sequencing is complete and analysis is underway. In addition, we are collaborating with Dr. Siegal Sadetzki (Gertner Institute, Israel) to sequence families with radiation-associated meningioma from the Israeli tinea capitis cohort. Current work focuses on verification of promising causative variants and validation of those mutations in a larger cohort of 100 cases and 100 controls, both irradiated. Similarly, we have sequenced 3 small families with bladder cancer and are working with Drs. Debra Silverman and Nat Rothman to exome-sequence an additional ~100 sporadic but with a family history of bladder cancer. Lastly we are sequencing multiple-case families (3+ cases) from Dr. Greene?s Familial Testicular and Germ Cell Tumor study. Follow-up sequencing is being done in the dozens of 2-case and bilateral families from the study, as well as men from Dr. Katherine Nathanson?s (Penn) testicular cancer study. """ |