ZIA CP004410-08220 (ZIA) | |||
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Title | Family Studies | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | A Tucker, Margaret | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $984,506 | Project Dates | 11/01/2000 - N/A |
Fiscal Year | 2009 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (50.0%) Cancer (100.0%) |
Melanoma (90.0%) Pancreas (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 | |||
Most Genetic Epidemiology Branch investigations evaluate the contributions of host susceptibility and environmental exposure in the development of cancer. In family studies, the host susceptibility measure is frequently an alteration in specific gene(s). These studies tend to be very long term with varying activity. Although two genes associated with melanoma susceptibility have been identified (CDKN2A and CDK4), alterations in these genes are found in only a small percentage of melanoma-prone families. The search for other genes continues; in collaboration with an international consortium (GenoMEL), a search for a new melanoma susceptibility genes continues both within families and a genome-wide association study. In a methodologic study, we compared CDKN2A mutation detection using denaturing high performance liquid chromatography to usual screening acorss nine different centers in GenoMEL. We found that mutation detection across the groups was consistent and of high quality. We continue to accrue and evaluate new families. Genome-wide linkage analyses of 51 Italian melanoma families from the Emilio Romagna area without CDKN2a or CDK4 mutations have found no significant evidence of linkage. We have continued to evaluate families of individuals with heritable retinoblastoma and melanoma. |