ZIA CP004410 - 08220 (ZIA) | |||
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Title | Melanoma families | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Goldstein, Alisa | NCI Program Director | N/A |
Cancer Activity | N/A | Division | DCEG |
Funded Amount | $327,712 | Project Dates | 11/01/2000 - 00/00/0000 |
Fiscal Year | 2015 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Biochemical Epidemiology (45.0%) 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 genome-wide association studies. We are conducting exome and whole genome sequencing in members of families without CDKN2A or CDK4 mutations. We are in the process of following up on interesting leads in several families, but we have not yet identified variations in a single gene present in several families. We have also conducted an association study of familial melanoma using a candidate gene approach. THe analysis is continuing. We continue to accrue and evaluate new families. We have continued to evaluate families of individuals with heritable retinoblastoma and melanoma. We aare also conducting eome sequencing in affected individuals in these families. |