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Project Abstract
In 1999 the
University of Pennsylvania was invited to join the Melanoma Genetics
Consortium, an international collaboration of researchers from the
United States, Australia, England, France, Israel, Italy, the
Netherlands, Scotland, Spain, and Sweden investigating the etiology of
familial melanoma. Families having two or more persons with documented
melanoma diagnosis are invited to participate in the Consortium study.
At the University of Pennsylvania, we refer to our local efforts as the
GEOM (Genetic Epidemiology of Melanoma)
study. We identify eligible families through the University of
Pennsylvania's Pigmented Lesion Clinic. The GEOM study team also acts as
the administrative center and central data repository for the Melanoma
Genetics Consortium.
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This project addresses several
hypotheses about inherited mutations in the CDKN2A (p16) gene and
melanoma risk including:
1. Determining
worldwide prevalence of CDKN2A mutations
2. The extent to which CDKN2A mutations explain melanoma risk within
melanoma-prone families and does this risk vary by latitude (as a
surrogate for ultra-violet exposure) or with average age at onset of
melanoma within families.
3. The degree to which other (non-melanoma) cancers are associated with
CDKN2A mutations.
4. Identification of modifiers of risk of melanoma in CDKN2A mutation
carriers, such as sun exposure or other
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